Busch Lab

ZMP

nup205

Ensembl ID:
ENSDARG00000042530
ZFIN ID:
ZDB-GENE-040715-8
Description:
nuclear pore complex protein Nup205 [Source:RefSeq peptide;Acc:NP_001003859]
Human Orthologue:
NUP205
Human Description:
nucleoporin 205kDa [Source:HGNC Symbol;Acc:18658]
Mouse Orthologue:
Nup205
Mouse Description:
nucleoporin 205 Gene [Source:MGI Symbol;Acc:MGI:2141625]

Alleles

There are 10 alleles of this gene:

Allele Name Consequence Status Availability
sa43060 Nonsense Mutation detected in F1 DNA Not yet available
sa25054 Nonsense Mutation detected in F1 DNA Not yet available
sa14979 Essential Splice Site Available for shipment Available now
sa6504 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43059 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43058 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6122 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

This allele has been removed from public view.

Allele Name:
sa4054
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Nonsense 275 1972 6 41
ENSDART00000062360 Nonsense 275 1996 6 40
ENSDART00000125555 Nonsense 280 2001 6 40
ENSDART00000143923 Nonsense 280 1977 6 41
Genomic Location (Zv9):
Chromosome 18 (position 11712508)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12295237
GRCz11 18 12263955
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGAAGCTGAYGGCTCTTTGGATAGTGTCAACCTTGCTTTGGTCATGGCAT[T/A]GCTCTATTCCCTGGATGTTAGTTTTCTGGAGCAAGGAACAGAAGATAGAG
Long Flanking Sequence:
ACAGCTTTTTCAAGGTTTGCCTGAAATGTCAGAGTAAAACATTTTGAGCTATTTTGAACCATTTGTCATTTCTTTCCATCCCTGTAGTCCTGAATTGGTGAATCTCACCACACGGTTCACAGATGAGCTGATGGCCCAGGGTTTGACCAAGCAAATACTGAACCTGGTCTCTGACGTCAGCGTGACCCGTGAGTTTGAGAGGCTGCAGAAAGAGCGTGGCCTTGGCAATGAGAAACACAGGAAAGAGGTGAAGCTCCTTTTATCAGCTGATGAGAACTACATAAGCAAATGGATAGTTTTATTAATATTCTTTTTTTATTATTAGGTATCTGACCTCATTAAAGAGTGCCGACAGTCTCTGGCAGAGTGTTTGTTTGCGTGGGCATGCCAGTCACCGCTAGGCAAAGATGACACGCTGGCTCTTATTGGGCATTTAGAGATGGTGACCGCTGAAGCTGATGGCTCTTTGGATAGTGTCAACCTTGCTTTGGTCATGGCAT[T/A]GCTCTATTCCCTGGATGTTAGTTTTCTGGAGCAAGGAACAGAAGATAGAGAAGGTATTCATGCTTTCCTGTGACCATCACTGTATTTTTATCTAAGTTCTTTAAAAGTGTAGTTCATCCAAAAGATTCAAACCCTTTAGAGTTTCTTCTGTTAAACACAAGAAGATGTTTTGAAGAATTCTGAAAAACTGTAACCATTGACTTCCATAGTATTGTTTTTTTTCTACTATGGAAGTCGATGGTTACAGGTAGGCTTGGGCGGTAATACGGTATTATGGTATACCGCGGGATCTAAAAATAGCAACGGTGTCAGTTTCAATACCGTTATACCGTCATAAAATATTAAATATCCTTTATTTAATGCCTACAAAAACGTATGTGTGATTGTCATCACGGGACAGTGTGGAGGAGAGAGGGAGAGGGAGGGGGAGAGGGAGAGGGAGAGGGAGGAGGAGAGGCAGGGGGAGAGAGGGAGAGGTGACAGTTTGGCAGTTTCGACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43060
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Nonsense 305 1972 7 41
ENSDART00000062360 Nonsense 305 1996 7 40
ENSDART00000125555 Nonsense 310 2001 7 40
ENSDART00000143923 Nonsense 310 1977 7 41
Genomic Location (Zv9):
Chromosome 18 (position 11710045)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12292774
GRCz11 18 12261492
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGTATCGATTAGACCTGCTCCAGGCTTTGCCTCTGTTGACGGAGAAA[C/T]AGTACGTGGCAGCCGTGCACAGTCGGCTGGTTGAGGGTCAAGGCTGGAAG
Long Flanking Sequence:
TGCTTTTTTAGACTTTATTTTTATTTATTTTATTTAGGGAAGAAAGAAAATGATAAAGATACAAAATAAAAAATAAAATAATGTGAACTTACATGAACAGTTGACTGGTCACATTACCAAATACATATAAGGATCAGTTTACACTATGTAAATGCATACGCACAATCCATTTCTCCCAGTATTGCAGGTATTTGTCCATTTGTAGTTTTAATGAAAATTCATCCTCTCCATATATTTCCAATTTTGTAAAGGGTTCAAGTTGTAGCCACTTTGGAGCGAAATATCATGATTTGTGTTCAACAGAATATAGAAACTTGAACAGGTTTTGAATCACTCAAGGTGGTGTGAATATTCATTTTTGTGTGAACTATCCCTTTATGTATGGCGCTTTGAGTAAAAAAAAGGTTGTATAGTAGGATTAGGTGACATTCTGTCTTCACAAACATGTGATTTTGTATCGATTAGACCTGCTCCAGGCTTTGCCTCTGTTGACGGAGAAA[C/T]AGTACGTGGCAGCCGTGCACAGTCGGCTGGTTGAGGGTCAAGGCTGGAAGCTTCCAGGACTGCAGGCAGTGGTGCAGCTGGCCTGGGCGCTGTCTCTGAGGGCCCTTTCACAACTTCCACAGGGTGCAGGTGGGTATACACTTTGACTGTTGACGTCAAAATTCTATTTACTCTCATGACATGAACTTTTTGTTAACCTTTATCAGCTTTAGTGGAGTTCACAGAAGCAGATGAGGCTCTGGCGGACCAGGCACTGTTGGGAGGCGTCTTCCTCTTTCTGACGGAGGGCGTCCTGGGAAGTGATGGTTTCAGCCAAGAAGAATTTTACACTCGGCGGCTGCATTCTCTGATTACTGATTTCCTGGCACTCATGCCAATGAAGGTGTGAAAAGAAATACATGCATTTGAGCTATTTTTTATCATGTGCTGTACACATGAATGTATTGTTCAGACATTTGGGCTTAAAAGATTTTTGTTATCTTGTTTTTGAAAAAAATTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25054
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Nonsense 1007 1972 20 41
ENSDART00000062360 Nonsense 1005 1996 20 40
ENSDART00000125555 Nonsense 1010 2001 20 40
ENSDART00000143923 Nonsense 1012 1977 20 41
Genomic Location (Zv9):
Chromosome 18 (position 11699247)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12281976
GRCz11 18 12250694
KASP Assay ID:
554-7808.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCTTTTGATCACGTCCCTGGAGCTAACAGGCCCCAATCTGGGCCTGTA[T/A]CTGCTTGGCTATGAAGTCAAGAAGCCAGTTTCCTCCACTAACCTTCAAGA
Long Flanking Sequence:
TTCAGGGCTGATTTCACACATTTGGCTTTTTACAGGTACCTGTATCACAGCAGCTCCAATCCTGATGCTGCGTTCCAGAGTGCAAAGATCCTGCGACGGATCACTCGCTACCCAAACATCCAGGCCAGACTGGTTGGAGACTTCACTCATGATCAGGTAAGGCATCTCACACTGTTTATGGAGAGAAAATCTATTAGAGTTTCATTTAATATAACAGAGTCATTGTGTAATGAGCAGGCAGTGAGTGAGAGGTTGATGGCCGGCTTTGTGGAGTGTCTGGACAGTGAAGAGGCTCAGGAAGGAGTGACCACAAATGGTGAGTCTAAAATGATCTCAGAATGGCTAAATATAATCTATTAATGAACTTCTAAGACCCTTTTTTTAAATTCAGATTCAGACTCTGAGAAACGGGTGGCCAGAATTCGTCATGAGACCAAGATCCACATCTTGAATCTTTTGATCACGTCCCTGGAGCTAACAGGCCCCAATCTGGGCCTGTA[T/A]CTGCTTGGCTATGAAGTCAAGAAGCCAGTTTCCTCCACTAACCTTCAAGACCCAGGTAAGATGTCACTTTTACTTGAAATATATTGTGCACTCCATCATTTTAAACTGCAAACTCTCTCTTAAACAGCAAATACTCCACGTATTGGTTCAGGCACTGCTTTGACATCGATACTGTTTTTTTTTTAAAGTATATTTGATTTTTGATATGATACCCCACCCTAAACACTAAATACTCATCATGTTTCCATTAATAAGGTGTTCTTGGCTGTCCGCGGAGCTGCCTGCATGCGATTCTCAGTCTGCTTCAGAGGGGCAGTGACTCTCGCTCTGGACCTGGGCTCATTAAACAGGCTCCTCAACTAGCTGAACTCTGCTACCAGGTACTCATTAGCTCCTTTCACACATACAGACCTTTCCGAAAAATTACCTTCAATTTTCCGGAAAGATCTGTATGTGTGAACAGGCCCTTTGTGAAAATACCGGTAAATTTGTTTTGGCTA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa7851
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1067 1972 21 41
ENSDART00000062360 Essential Splice Site 1065 1996 21 40
ENSDART00000125555 Essential Splice Site 1070 2001 21 40
ENSDART00000143923 Essential Splice Site 1072 1977 21 41
ENSDART00000062216 Essential Splice Site 1067 1972 21 41
ENSDART00000062360 Essential Splice Site 1065 1996 21 40
ENSDART00000125555 Essential Splice Site 1070 2001 21 40
ENSDART00000143923 Essential Splice Site 1072 1977 21 41
Genomic Location (Zv9):
Chromosome 18 (position 11698866)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12281595
GRCz11 18 12250313
KASP Assay ID:
2261-1914.1 (used for ordering genotyping assays)
KASP Sequence:
GACCTGGGCTCATTAAACAGGCTCCTCAACTWGCTGAACTCTGCTACCAG[G/A]TACTCATKAGCYCCTTTCACWCATACAGACCTTTCCGAAAAANTTACCKTC
Long Flanking Sequence:
TTAAATTCAGATTCAGACTCTGAGAAACGGGTGGCCAGAATTCGTCATGAGACCAAGATCCACATCTTGAATCTTTTGATCACGTCCCTGGAGCTAACAGGCCCCAATCTGGGCCTGTATCTGCTTGGCTATGAAGTCAAGAAGCCAGTTTCCTCCACTAACCTTCAAGACCCAGGTAAGATGTCACTTTTACTTGAAATATATTGTGCACTCCATCATTTTAAACTGCAAACTCTCTCTTAAACAGCAAATACTCCACGTATTGGTTCAGGCACTGCTTTGACATCGATACTGTTTTTTTTTTAAAGTATATTTGATTTTTGATATGATACCCCACCCTAAACACTAAATACTCATCATGTTTCCATTAATAAGGTGTTCTTGGCTGTCCGCGGAGCTGCCTGCATGCGATTCTCAGTCTGCTTCAGAGGGGCAGTGACTCTCGCTCTGGACCTGGGCTCATTAAACAGGCTCCTCAACTAGCTGAACTCTGCTACCAG[G/A]TACTCATTAGCTCCTTTCACACATACAGACCTTTCCGAAAAATTACCTTCAATTTTCCGGAAAGATCTGTATGTGTGAACAGGCCCTTTGTGAAAATACCGGTAAATTTGTTTTGGCTATTTTCTGGAAAGAGAAGTTGTAACATTACCGGTAATTTGGCGGAATGCTGCGCTGTGTGAACGCAGAAGAAAGATTGCCGGAAAGAGCGCATCCATGTCTAGAACATGCTGACGTGAGACGTCTACTTTAGCCAATCAGAACAGTCAGACGCAATTACATCCATGTGGTTTATAAAAATAAAAGCCTTTGATTATTTTTCCAGACACATTTAGCTGCTAGATGTTAGTCAGATATTGTTTCTATGTTCCTTCTTAATGCCTACTGGGTAAATAATTATCGATAATATGCTTATGGTAAGCCGTTGTTTGTTTACTTTCAAGCTCTGCTTCCTTCAGTTGCGTGACACGTCGCCTGTGCCCGTAAAGCAGTCTGTTAGCACC
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
Stage Entity Quality Tag
Pharyngula:Prim-5
ZFS:0000029
brain
ZFA:0000008
necrotic
PATO:0000647
abnormal
PATO:0000460
Pharyngula:Prim-5
ZFS:0000029
whole organism
ZFA:0001094
degenerate
PATO:0000639
abnormal
PATO:0000460

Mutation Details

This allele has been removed from public view.

Allele Name:
sa19197
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1067 1972 21 41
ENSDART00000062360 Essential Splice Site 1065 1996 21 40
ENSDART00000125555 Essential Splice Site 1070 2001 21 40
ENSDART00000143923 Essential Splice Site 1072 1977 21 41
ENSDART00000062216 Essential Splice Site 1067 1972 21 41
ENSDART00000062360 Essential Splice Site 1065 1996 21 40
ENSDART00000125555 Essential Splice Site 1070 2001 21 40
ENSDART00000143923 Essential Splice Site 1072 1977 21 41
Genomic Location (Zv9):
Chromosome 18 (position 11698866)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12281595
GRCz11 18 12250313
KASP Assay ID:
2261-1914.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACCTGGGCTCATTAAACAGGCTCCTCAACTAGCTGAACTCTGCTACCAG[G/A]TACTCATTAGCTCCTTTCACACATACAGACCTTTCCGAAAAATTACCTTC
Long Flanking Sequence:
TTAAATTCAGATTCAGACTCTGAGAAACGGGTGGCCAGAATTCGTCATGAGACCAAGATCCACATCTTGAATCTTTTGATCACGTCCCTGGAGCTAACAGGCCCCAATCTGGGCCTGTATCTGCTTGGCTATGAAGTCAAGAAGCCAGTTTCCTCCACTAACCTTCAAGACCCAGGTAAGATGTCACTTTTACTTGAAATATATTGTGCACTCCATCATTTTAAACTGCAAACTCTCTCTTAAACAGCAAATACTCCACGTATTGGTTCAGGCACTGCTTTGACATCGATACTGTTTTTTTTTTAAAGTATATTTGATTTTTGATATGATACCCCACCCTAAACACTAAATACTCATCATGTTTCCATTAATAAGGTGTTCTTGGCTGTCCGCGGAGCTGCCTGCATGCGATTCTCAGTCTGCTTCAGAGGGGCAGTGACTCTCGCTCTGGACCTGGGCTCATTAAACAGGCTCCTCAACTAGCTGAACTCTGCTACCAG[G/A]TACTCATTAGCTCCTTTCACACATACAGACCTTTCCGAAAAATTACCTTCAATTTTCCGGAAAGATCTGTATGTGTGAACAGGCCCTTTGTGAAAATACCGGTAAATTTGTTTTGGCTATTTTCTGGAAAGAGAAGTTGTAACATTACCGGTAATTTGGCGGAATGCTGCGCTGTGTGAACGCAGAAGAAAGATTGCCGGAAAGAGCGCATCCATGTCTAGAACATGCTGACGTGAGACGTCTACTTTAGCCAATCAGAACAGTCAGACGCAATTACATCCATGTGGTTTATAAAAATAAAAGCCTTTGATTATTTTTCCAGACACATTTAGCTGCTAGATGTTAGTCAGATATTGTTTCTATGTTCCTTCTTAATGCCTACTGGGTAAATAATTATCGATAATATGCTTATGGTAAGCCGTTGTTTGTTTACTTTCAAGCTCTGCTTCCTTCAGTTGCGTGACACGTCGCCTGTGCCCGTAAAGCAGTCTGTTAGCACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14979
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1181 1972 25 41
ENSDART00000062360 Essential Splice Site 1178 1996 25 40
ENSDART00000125555 Essential Splice Site 1183 2001 25 40
ENSDART00000143923 Essential Splice Site 1186 1977 25 41
Genomic Location (Zv9):
Chromosome 18 (position 11695528)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12278257
GRCz11 18 12246975
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGTGTGAAATAATGGTGTTCCTTTAATCATGGTGATCTCTGGTGGTTTT[A/G]GTGCGCAGGAGGCTGCTCAGTGTTTTGGATGCCATAGATTTYAGTCAGGA
Long Flanking Sequence:
GAACTACTGTCTGGTGTAATAATCAGGAGTTTGCTTCTGTACCATGGCTGAGCAGACACAGTTACATTAAGCAGCAATGATTCTATTTTCAGGGCTGCATAATACCATTGATCCTGGTGGAGCCATAGTTCAGCAGCAAATTCACTTAATCATTACTCCAGAATGAGAATACAGCCATATCAACTTAGAAAATAGCAACTTTTCAGTTTTCCTTGGTCTTAGTACATGATGTAACTACACAAGAGTCAAACTTTAAATAGGAAAATTATCAAACCTCTTTTTAGACATCTTTGAGTGAGATGCTAATGGTCTAATTCAATTCAATGATTTATGCTAAGGTAAGCTAAGCTTAGGGTAAAGTGTTGCCCCAAACCAAAATGCTATCTTAAAGGTTAAACTGAACCCTTTAACTCTTGGTGACATGAAAATCAGCCTATTTCCAAATAATAAAAGTGTGAAATAATGGTGTTCCTTTAATCATGGTGATCTCTGGTGGTTTT[A/G]GTGCGCAGGAGGCTGCTCAGTGTTTTGGATGCCATAGATTTCAGTCAGGAGGCACCAGAGCTTCTGCAGCTGGACTTCTTTGAGCGCACTCAGATCGAGCAGGTCATCACTAACTGTGAACATGTCAACGAGCAGGGACACACCGTCTGCAATGTCAAGGTACATGGATGAAAAACTGAAAAATATTATATTATTAAAAAAATAATACAAAAAGTATTAAGCTTAAAACTTTTAAATGAAATAGTCTATTCCAATGAAACGCCACAATAATATATATATATATATATATATATAAATATATATATATATATATATATATTATAAATGTTTTAAATTCAGTTAGGAGGTCATGGCCTGATGTGTCAATCTACTATTGGTGCACAACAAAATAGCCAAATGAACTGAAATACATTAAACAAAGCTAAAGAACTGAAAGGACGTAATTTCTATCAAAATTAAACAAAATTTGCCAATTTGTAACAGCTCATGAACACAAACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6504
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1625 1972 32 41
ENSDART00000062360 Essential Splice Site 1622 1996 32 40
ENSDART00000125555 Essential Splice Site 1627 2001 32 40
ENSDART00000143923 Essential Splice Site 1630 1977 32 41
Genomic Location (Zv9):
Chromosome 18 (position 11691087)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12273816
GRCz11 18 12242534
KASP Assay ID:
554-4578.1 (used for ordering genotyping assays)
KASP Sequence:
GGTCATCTTGACCTCCACCACCGCACAGCACCAGCAGGGGGCAGCACAGG[T/C]ACTAAAACAATGATTCCAATGATGTCCCTAAAGCTCGTGCACACCTGGCT
Long Flanking Sequence:
TGCGCTGTGGTCTGGTCGCTCAGCTGGTGGAGTGTCAGGTGTTTCACATGCTCCCTCAGAATGACGCGCTCAGGTCTGACTTCTGCCATCTTTAAACATGAAATATACTCACTGTTTACTCATCCTCAAGTGGTTCCAAACCCTAGACAATATTTTGATGAAAACCTGACTTCTATTGTAGGAAAAACAAATACTATGGTAGTCGATGGTTTCTTTATATTAAGTTATTTTGTGTTCAACAGAAGAATGAAATTAGGTTTTCAACAAGTGAGCATAAATGATGACAGAATTTTCATTTTTAGAAGAAATATCCCTTTAAGCTTTAAGTGTTTTATCTGACTCTCTGCATTTTTCTTCTAGAGTGTTTGGGCAGAGAGATCCTTCAGGGTTTATTCCTAGTCCTCTGGAGCGATACAGGCAGATCCTGCTTCCTACACTCAGACTGATGCAGGTCATCTTGACCTCCACCACCGCACAGCACCAGCAGGGGGCAGCACAGG[T/C]ACTAAAACAATGATTCCAATGATGTCCCTAAAGCTCGTGCACACCTGGCTGATTTGGCTTGCACTTATCAGCATTTTTTAGGGCATTTTTTTGTGATTTTTTTTTATTTTATTTATTTTTTTACTGGCATTGAGCAGAGTGAATGTGCAAAATCCCTCATTGACATTAGATGGCAAAACAGAAATACCCTGGTACACAATTGACACTTGTTGCAGGGAAGTACCCACTTTCAGAATTTTTATTCTTGTGTATTTATAGCTTAATATTTTCCACTTCAGTTTAACCACGTCCACTACAGCACACAAGCACCTTGTCAGATGTTTGTGGGGAAAATTTAAAAGCCATGAAAGAAAATGTTAGTGCTTGAGAGCCACCAAGTTTCAGTCTGTTTTACTGACACTTCAGCACGTGAACAAAAGTGCCAATCTCATTGGTCAAGCAGTTTTTAACTCGCTGCCTCAAGCCAAAAAATGTTGACATCTGCAAACTCACAGTGGTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43059
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1692 1972 34 41
ENSDART00000062360 Essential Splice Site 1689 1996 34 40
ENSDART00000125555 Essential Splice Site 1694 2001 34 40
ENSDART00000143923 Essential Splice Site 1697 1977 34 41
Genomic Location (Zv9):
Chromosome 18 (position 11689025)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12271754
GRCz11 18 12240472
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAACAGCGCTGCCCTCATGGAGTTACAGGGACACATCGGCAGATTCCAG[G/A]TGAAATATTGAAACAAATATTTCAAAATGCTATTATATAGAGCAGAATAG
Long Flanking Sequence:
TATGTGAAAGACCTGTACAGCTTTACTGTAGACATTTCCTCGAACGAGAATGAAGTCGACTGAAACTTTCTGTCTTACACTACACCCACCATTGGCTACCATTGGAATACACTTTTGGCCGTGGAAATGCAAGGCCTTCAGTGTTAGCATCGAGCTATATGTGCTACCCTTTTAAGATCTTCTGTTATATTTGTCTAAAAAAAGCTTGCATGTGTGTTGATGTGTAGGTGCTCCAGTGGCTTATCGTTCATTCGGATGTCATTCAGTCTATTCTGCATGGTCAGGACATGAGCATGGGCTCTTTACAGGAACTGTCTCTGCTCACTGCCATCATCAGCAAGACGGCACTGCCAGGTACAACAGCACTACAGCAGACTGAAAAACACCCAAAACACTGATGAATGGCTAATGTTGAGTGTGTTTCAGGAGCACTTGAGATGGGACAGGAAATCAACAGCGCTGCCCTCATGGAGTTACAGGGACACATCGGCAGATTCCAG[G/A]TGAAATATTGAAACAAATATTTCAAAATGCTATTATATAGAGCAGAATAGAAATGGAGTGACTGAAAGCAGTTGGATGTAGCTATGATGACATTAATGCGGTTAACTGCATATTAAAAGCTGATCATGTTGCTAGTATAACTTCACAAACTGGGTGCTGTTCTTCTTCCTCCTCCAGCGGCAGTCGTTGTCTCTGCTGGTGCGTCTGGTGGGCACTGATCGCGCTCGCTACCTTAAGCAGATTGAGGACACCGTTTCTCCCAGCAACCTAGCAGAAAAAAGAGAGGAAATGGAGGTTGCCATGCAACAGGTATGGTGTCACTGAAAATGTACATGATTTAAAAACCAAAAAAAATATATATATACATTTAATAATATAATAATACATGTTACAGTTGGCAACTTTGTCCATGGTTAAAACAACTGTTTAATGATAATCTGTGTAGAAAAACTACATTTCCCATGATGCTCTGACAAAATTTCCAGTTTTTCAACTCCTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43058
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 Essential Splice Site 1868 1972 39 41
ENSDART00000062360 Essential Splice Site 1865 1996 39 40
ENSDART00000125555 Essential Splice Site 1870 2001 39 40
ENSDART00000143923 Essential Splice Site 1873 1977 39 41
Genomic Location (Zv9):
Chromosome 18 (position 11686712)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12269441
GRCz11 18 12238159
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACACCTGGAAATGGGGAAATGTGTTGTTCTTGACGTGTTTTTTCTGAA[G/A]ATATCATTGAGACGTGTCTGTTTGTCATCTGGCGCCACCTAGAGTTTTAC
Long Flanking Sequence:
TGCCCAGTCTGGGGCTGGTTCTGCTCCTGCTGAAAAACAGCGCCAGCGACTTCTTCAGGTATCACGACAGTCACAGACAGAGCCTGAACAAGCTGGAGCGAGTGGAGCAGCTTCCTCCTGAGGAACTCAAAGAGGTTTTTGTTAGATTTGTGTGCAGCTGTTTGATTCAAATGTTCAGTATTAGGAAGGCATGGTGTGTGTTAATATATGTTTGTGTGTGTGTGTGTGTGTGAAGCTGTGCCAGGGTTTGGTGTCTGGTTCTGGTGGAGTGGAAAAGATCTCATCAGTGCAGAGAAACGTACTCGCCAAACGGAGACTCGTCCAGCTGGTCAACAACAGAGCCAAGCTTCTTGCCCTCTGCTCTTGTATCCTTTGCATTAAAATTAAGGCTTTAAATAAATGTTCTGAGAATTTGACTGTTTATTCCTGTTAAGATTTGAAATTGTGCTCTCACACCTGGAAATGGGGAAATGTGTTGTTCTTGACGTGTTTTTTCTGAA[G/A]ATATCATTGAGACGTGTCTGTTTGTCATCTGGCGCCACCTAGAGTTTTACTTGCTTTACTGCACTCCCACTGACCCCAAAGACTCACTGCTGCCAGGTTACAGAGGTCAGCTTTCTCTCAAGCTTCAGGATTATTTTCAGATGCTGTTGAATGACATGGTTTCTTACCAGATTGCTCTCTCTGCAGATCCTGCAGGCAGCAGAGGATTGAGCGTGTCGAGAGTGAGCCAGCAAGATCTTGAACAGGTATATTGTACATCTATACTCTCCAAATAATTGTCAAAAAATTCCATAAAGACAGTTGGTGATTAGGGCCAAAAAATAGATTTGTCTAGTTTTCATGAGTAAAAAAAAAATTGTTGACATAATTTATCTGTGAAATGAACACTGAAAATGTCTTCTTGTGTGGAATTACTGATGTTCTGTGAGGTGGAACTTCTGTGTAAGTTTTTAACACAACTAATCTGATTATACACCTTTAGGGCCAATAGTACTATTAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6122
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062216 None None 1972 None 41
ENSDART00000062360 Nonsense 1907 1996 39 40
ENSDART00000125555 Nonsense 1912 2001 39 40
ENSDART00000143923 None None 1977 None 41
Genomic Location (Zv9):
Chromosome 18 (position 11686586)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 12269315
GRCz11 18 12238033
KASP Assay ID:
554-3821.1 (used for ordering genotyping assays)
KASP Sequence:
CYAAAGACTCACTGCTGCCAGGTTACAGAGGTCAGCTTTCTCTYAAGCTT[C/T]AGGATTATTTTCARATGCTGTTGAATGACATGGTTTCTTACCAGATTGCT
Long Flanking Sequence:
TCAAAGAGGTTTTTGTTAGATTTGTGTGCAGCTGTTTGATTCAAATGTTCAGTATTAGGAAGGCATGGTGTGTGTTAATATATGTTTGTGTGTGTGTGTGTGTGTGAAGCTGTGCCAGGGTTTGGTGTCTGGTTCTGGTGGAGTGGAAAAGATCTCATCAGTGCAGAGAAACGTACTCGCCAAACGGAGACTCGTCCAGCTGGTCAACAACAGAGCCAAGCTTCTTGCCCTCTGCTCTTGTATCCTTTGCATTAAAATTAAGGCTTTAAATAAATGTTCTGAGAATTTGACTGTTTATTCCTGTTAAGATTTGAAATTGTGCTCTCACACCTGGAAATGGGGAAATGTGTTGTTCTTGACGTGTTTTTTCTGAAGATATCATTGAGACGTGTCTGTTTGTCATCTGGCGCCACCTAGAGTTTTACTTGCTTTACTGCACTCCCACTGACCCCAAAGACTCACTGCTGCCAGGTTACAGAGGTCAGCTTTCTCTCAAGCTT[C/T]AGGATTATTTTCAGATGCTGTTGAATGACATGGTTTCTTACCAGATTGCTCTCTCTGCAGATCCTGCAGGCAGCAGAGGATTGAGCGTGTCGAGAGTGAGCCAGCAAGATCTTGAACAGGTATATTGTACATCTATACTCTCCAAATAATTGTCAAAAAATTCCATAAAGACAGTTGGTGATTAGGGCCAAAAAATAGATTTGTCTAGTTTTCATGAGTAAAAAAAAAATTGTTGACATAATTTATCTGTGAAATGAACACTGAAAATGTCTTCTTGTGTGGAATTACTGATGTTCTGTGAGGTGGAACTTCTGTGTAAGTTTTTAACACAACTAATCTGATTATACACCTTTAGGGCCAATAGTACTATTAAGAATGGTTACTCTGAATCGCCTTATTGAGATAAAGAGATTAATTGTTGTATTTAAAAAAAAAAAAGTTATTCAATTAAAAAAGGCAGAACAGTCTCAATGGGGTATATGCCGAGCTAATGTTGTTCT
Associated Phenotype:
Not determined