Busch Lab

ZMP

fgfr1a

Ensembl ID:
ENSDARG00000011027
ZFIN ID:
ZDB-GENE-980526-255
Description:
Basic fibroblast growth factor receptor 1-A [Source:UniProtKB/Swiss-Prot;Acc:Q90Z00]
Human Orthologue:
FGFR1
Human Description:
fibroblast growth factor receptor 1 [Source:HGNC Symbol;Acc:3688]
Mouse Orthologue:
Fgfr1
Mouse Description:
fibroblast growth factor receptor 1 Gene [Source:MGI Symbol;Acc:MGI:95522]

Alleles

There are 11 alleles of this gene:

Allele Name Consequence Status Availability
sa1689 Essential Splice Site Available for shipment Available now
sa38715 Nonsense Mutation detected in F1 DNA Not yet available
sa21395 Essential Splice Site Available for shipment Available now
sa21394 Nonsense Available for shipment Available now
sa12393 Essential Splice Site, Missense Available for shipment Available now
sa21393 Nonsense Available for shipment Available now
sa16812 Nonsense Available for shipment Available now
sa6106 Nonsense Mutation detected in F1 DNA Not yet available
hu3264 Nonsense Confirmed mutation in F2 line Not yet available
sa34510 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa1689
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
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Essential Splice Site 34 809 1 17
ENSDART00000074774 Essential Splice Site 34 810 1 17
ENSDART00000127119 Essential Splice Site 46 328 1 16
ENSDART00000135166 Essential Splice Site 34 696 1 15
ENSDART00000147742 Essential Splice Site 34 808 1 17
Genomic Location (Zv9):
Chromosome 8 (position 53785155)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51520514
GRCz11 8 51507043
KASP Assay ID:
554-1635.1 (used for ordering genotyping assays)
KASP Sequence:
TTAACTCAAGCTCTTCAGTCGCAGGGCAGACCAGCCATCCAAGATGAGGG[T/C]AAGTCTTTTCTCTGGTCCTCTTGTTCTGTTGTGTCAGAATTGAAGATTGT
Long Flanking Sequence:
TATTTCCAATATTTTACCTATTTTCTACATTGAACATTTTGACGTGTTCAGGATAGATAGCTATTTTTTATTTTTTTAAGATTTATTTTTGGCCTTTTTGCCCTTTATTAAGTGGATAGGACAGTATTTCAGACAGGAAGCGAAGTGGGAGAGAGAGTGGTTAGGGACGGGAAATGTCCTTAAGTCGGGATTCGAACTCGGGACTCCCTGAACAACATATGGTACTACAGCACCATATGTTGACGCACTAACCACTAGGCTATTGCGCCGAGAATAGATGGCTATTATCAATGAATTTTCTTTCTCTCTGTCTTAAACACAGTGCTGATGTCCTAGTCGACTTCATGGAGAGCTGGGCTGGATGTGGAGTTCAGATGTAGAGGATCTTTGATAATAATAATGAAGATGATGATGATAATGAAGACCACGCTGCTGCTGATCTCAGTACTGTTAACTCAAGCTCTTCAGTCGCAGGGCAGACCAGCCATCCAAGATGAGGG[T/C]AAGTCTTTTCTCTGGTCCTCTTGTTCTGTTGTGTCAGAATTGAAGATTGTTTTATTATAACAAGCCATGTCTCTTAGGCTCTGTGCAATTAAGCTCCTTACATTTTGTTTATTTGCTATATCCTGCAATTTATTTCACTCCATCATTTTCCCCACTGCTTAAGTTTATTATACTAAAACCCGGTGGGATTGTTTTCCACCCTCGGTCTGACCCTGTTTAAAACAGGGTGGATCTTTTAAAACTGCACCAGTAGGATTTCATCATATCAATTAACATTAATTGAGCTTAAAATAAGCTCAAATTTAGAAAACTACACTGTATTAACTTTAAATGCATATGAACTTTAATGACATCCCAGCCTTTATGATTTAATGGGGCTGTTGGCCGACCTATTGCAGCTATACTAGCGTCAGCTCCCCTGGGAAGGCTTTCCACAAGGTTTATTAGTGTTTTTATGGAAATGTTTGACTCATTCTTGAAGCACATGTCAATCCTTCTGA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa38715
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 54 809 2 17
ENSDART00000074774 Nonsense 54 810 2 17
ENSDART00000127119 Nonsense 66 328 2 16
ENSDART00000135166 Nonsense 54 696 2 15
ENSDART00000147742 Nonsense 54 808 2 17
Genomic Location (Zv9):
Chromosome 8 (position 53764161)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51499520
GRCz11 8 51486049
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCCCACATCGTACACTCTGGATTCAGGAGAGAAACTGGAGCTGTCCTGT[A/T]AAGCTAAAGAGGACACACAGAAAGTGACCTGGACCAAGGACCTCGTTCCA
Long Flanking Sequence:
TGACACATGCAGAGAGGAATGTCAATCAAACTGGACCGCTGCTTCTCACTGAGGGCTGTTTATGCTAACAAAGGAGAGATGGTCACTAGTGGGCGGGGCTTTTCCACTCGAATGACACGTACAAAGGGAGAATGTCAATCAAATTAGACTCCTGCTTCTCACTCAGGGCTGTTTATGCTAATGAGGAAGAGATGGTCACTAATGGGTGGGGCTTTCATTCAAAGTGTTTCTGCAGACTGTTTTAATCACGTGTGAATATAAAGAATAGAATTAATTTTTACGATTAGAGACTGGATATATTTACACACTTTTTCCCACAGAACTGTTTAAACCCCTTATAAAAGCGAATTTTGCATATTAGGTCTACTTATAATCCTGTAGAAATGGATCATTTGGATTGCTGTGGTTTTAACCACTTTAATTTCTTATATCCTGATATAGCCCCGGCTGAGCCCACATCGTACACTCTGGATTCAGGAGAGAAACTGGAGCTGTCCTGT[A/T]AAGCTAAAGAGGACACACAGAAAGTGACCTGGACCAAGGACCTCGTTCCACTGGTTGACGGAGAACACACACGCCTGCGCAACGATCAGATGGAGATCGAGAAAGTAGAGCCGACCGACTCTGGTCTGTATGCTTGCTTTGCTCAGGGACTCAACAGCAACCATACAGAATACTTCAATATCAGTGTTACAGGTGAGAATGCAACTGAATACACAATACATCACAAAATTATCATTATCGCGATAAAAGTACATGCAATAGAAGTATCGCACTCTTGTGTGATCAAATACATTTATTTTATGCATTGGTTGTTGATTGACCAATCAGGTAAGGCCTTACTGTATTTAGCCCCGCCTCCCACGTAGTTGCTGTTCTGCTAATGGCTGAAGCTGAACCCAGAGCTGAGCTATAAAGACTAATAGGTGGAGTCTAGATGAAAAACAGCCAATCAGAGTCAGAATATCTGCTGAGGTTTTCACTCTCTTATAATGTTTTCATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21395
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Essential Splice Site 117 809 2 17
ENSDART00000074774 Essential Splice Site 117 810 2 17
ENSDART00000127119 Essential Splice Site 129 328 2 16
ENSDART00000135166 Essential Splice Site 117 696 2 15
ENSDART00000147742 Essential Splice Site 117 808 2 17
Genomic Location (Zv9):
Chromosome 8 (position 53763968)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51499327
GRCz11 8 51485856
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGGGACTCAACAGCAACCATACAGAATACTTCAATATCAGTGTTACAG[G/A]TGAGAATGCAACTGAATACACAATACATCACAAAATTATCATTATCGCGA
Long Flanking Sequence:
GGTCACTAATGGGTGGGGCTTTCATTCAAAGTGTTTCTGCAGACTGTTTTAATCACGTGTGAATATAAAGAATAGAATTAATTTTTACGATTAGAGACTGGATATATTTACACACTTTTTCCCACAGAACTGTTTAAACCCCTTATAAAAGCGAATTTTGCATATTAGGTCTACTTATAATCCTGTAGAAATGGATCATTTGGATTGCTGTGGTTTTAACCACTTTAATTTCTTATATCCTGATATAGCCCCGGCTGAGCCCACATCGTACACTCTGGATTCAGGAGAGAAACTGGAGCTGTCCTGTAAAGCTAAAGAGGACACACAGAAAGTGACCTGGACCAAGGACCTCGTTCCACTGGTTGACGGAGAACACACACGCCTGCGCAACGATCAGATGGAGATCGAGAAAGTAGAGCCGACCGACTCTGGTCTGTATGCTTGCTTTGCTCAGGGACTCAACAGCAACCATACAGAATACTTCAATATCAGTGTTACAG[G/A]TGAGAATGCAACTGAATACACAATACATCACAAAATTATCATTATCGCGATAAAAGTACATGCAATAGAAGTATCGCACTCTTGTGTGATCAAATACATTTATTTTATGCATTGGTTGTTGATTGACCAATCAGGTAAGGCCTTACTGTATTTAGCCCCGCCTCCCACGTAGTTGCTGTTCTGCTAATGGCTGAAGCTGAACCCAGAGCTGAGCTATAAAGACTAATAGGTGGAGTCTAGATGAAAAACAGCCAATCAGAGTCAGAATATCTGCTGAGGTTTTCACTCTCTTATAATGTTTTCATGTTTGACACAGTTTTTGAGATTAATTAAATCTGAAAAAATATATTTTTTCTTGTTTAATATCATTATATAAATTATTTAAAAACTAACCTAATTAAAATAGAATTATTATTTTATGGAAAGTATCGTAAGAAATGTCATTATCACAATACTCAACAACAATATATATCGCATATGGTGTATTTTTCCAGTATCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21394
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 399 809 8 17
ENSDART00000074774 Nonsense 398 810 8 17
ENSDART00000127119 None None 328 7 16
ENSDART00000135166 None None 696 None 15
ENSDART00000147742 Nonsense 398 808 8 17
Genomic Location (Zv9):
Chromosome 8 (position 53724032)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51459391
GRCz11 8 51445920
KASP Assay ID:
2260-1210.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGTGCTGGCCAAAATGCACAGCTCTGCCAAGAAAAGCGACTTCAACAGC[C/T]AGCTGGCCGTCCACAAGCTGGCCAAGAGCATCCCCCTGCGCAGACAGGTA
Long Flanking Sequence:
AGAACAGAAACACATTTGATAATCCTGACTTGCCTAAAAGAGAAACAGTTTAGTCACATTACCATCTGACCTTTTTTAAATGGTTGTATGCCTTTTTATACAGTGTATGTACACTTCTGTTTTTAACTGCATCACTGTTAAAAAAAGAAAGAAAGTTGACTCAACTTAAAATATAAGGCAACTTGCTTCATGGCTTTTTGAGTTGACTTAAATCAAGTCAAAAGCAGTACTTAGATTAAAAGTTGAGTCAACTGAGATGTAAATAGCTGTGTTTTCTCAGCTCACGAAGGTCAATAAACATGATCATCACCCCTTCCCTTCTGCCACCCTGCATTGTTCCTTTCTTTTATAATCCAGCCGTTCCCCCGACTCAGCTGCCCAACCAGACGTACCTGGAGGTGCTGATCTACTGCGTGGGCTTCTTCCTCATCTGTGTGATGGTGGGGACCGCCGTGCTGGCCAAAATGCACAGCTCTGCCAAGAAAAGCGACTTCAACAGC[C/T]AGCTGGCCGTCCACAAGCTGGCCAAGAGCATCCCCCTGCGCAGACAGGTAACAGAAAGTAGATAGGGGGTTTGATATCTTTACTACTAAACACACAAACATCTCATTTCAGCAGCTGTTTGTTGTGGCATCTGGTGGATACTGATGGATTTAGTGATTGCACGGACGTAACAACAGTCAAAGACATCGAATAGGATCAATATTTAACTGTAATGTTGTTCATTGAAAGTCTGCATCGACCGAATTTTATTTCAGTGTGTTGATGGACTTCCAGTGGACCCTTTGCACGTTTCCAGGTTTCTCAGCAGCAGAAGTCGTCATAGTTGGGTGAACTTAAGAGCGCAGTGAATGGGAGAGTACATCAAATATTTTTTGGCAATCCTATTTGGTGAAATAATAAAGGAAAAATTCAATTATGGTGTTATCAAGACTTTCAGAAAAAGGAAAACAATTTTGTGAGACTGTTAACGGCAGCCGGAAGAGAGAACAACGTCAAATTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12393
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:
T > C
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Essential Splice Site 414 809 None 17
ENSDART00000074774 Missense 414 810 8 17
ENSDART00000127119 Essential Splice Site None 328 None 16
ENSDART00000135166 None None 696 None 15
ENSDART00000147742 Essential Splice Site 413 808 None 17
Genomic Location (Zv9):
Chromosome 8 (position 53723983)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51459342
GRCz11 8 51445871
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGCTGGCYGTCCACAAGCTGGCCAAGAGCATCCCCCTGCGCAGACAGG[T/C]AACAGAAAGTAKATAGGGGGTTTGATATCTTTACTACTAAACACACAAAC
Long Flanking Sequence:
TTAGTCACATTACCATCTGACCTTTTTTAAATGGTTGTATGCCTTTTTATACAGTGTATGTACACTTCTGTTTTTAACTGCATCACTGTTAAAAAAAGAAAGAAAGTTGACTCAACTTAAAATATAAGGCAACTTGCTTCATGGCTTTTTGAGTTGACTTAAATCAAGTCAAAAGCAGTACTTAGATTAAAAGTTGAGTCAACTGAGATGTAAATAGCTGTGTTTTCTCAGCTCACGAAGGTCAATAAACATGATCATCACCCCTTCCCTTCTGCCACCCTGCATTGTTCCTTTCTTTTATAATCCAGCCGTTCCCCCGACTCAGCTGCCCAACCAGACGTACCTGGAGGTGCTGATCTACTGCGTGGGCTTCTTCCTCATCTGTGTGATGGTGGGGACCGCCGTGCTGGCCAAAATGCACAGCTCTGCCAAGAAAAGCGACTTCAACAGCCAGCTGGCCGTCCACAAGCTGGCCAAGAGCATCCCCCTGCGCAGACAGG[T/C]AACAGAAAGTAGATAGGGGGTTTGATATCTTTACTACTAAACACACAAACATCTCATTTCAGCAGCTGTTTGTTGTGGCATCTGGTGGATACTGATGGATTTAGTGATTGCACGGACGTAACAACAGTCAAAGACATCGAATAGGATCAATATTTAACTGTAATGTTGTTCATTGAAAGTCTGCATCGACCGAATTTTATTTCAGTGTGTTGATGGACTTCCAGTGGACCCTTTGCACGTTTCCAGGTTTCTCAGCAGCAGAAGTCGTCATAGTTGGGTGAACTTAAGAGCGCAGTGAATGGGAGAGTACATCAAATATTTTTTGGCAATCCTATTTGGTGAAATAATAAAGGAAAAATTCAATTATGGTGTTATCAAGACTTTCAGAAAAAGGAAAACAATTTTGTGAGACTGTTAACGGCAGCCGGAAGAGAGAACAACGTCAAATTTGCTGTCCTGCCCGATAGAGGCTACAACAGAAATGCCATGCATTAGCGGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21393
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
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 449 809 9 17
ENSDART00000074774 Nonsense 450 810 9 17
ENSDART00000127119 None None 328 8 16
ENSDART00000135166 Nonsense 336 696 7 15
ENSDART00000147742 Nonsense 448 808 9 17
Genomic Location (Zv9):
Chromosome 8 (position 53721719)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51457078
GRCz11 8 51443607
GRCz11 KZ116017.1 2300
KASP Assay ID:
2260-1208.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCGTCTGTCCTCCAGTGGCTCCCCAATGCTCTCAGGGGTCTCCGAATA[C/A]GAGCTTCCCCAGGACCCACGCTGGGAGGTGCAACGAGACAGGTAACACAC
Long Flanking Sequence:
TTAAATTTCGTTTGCCAATTTCCTATTTAAATGTTGAGTCTTCTGTAGTTACATTGTTTAATAGCTTCAACAGAAACTGAAAAATTACATTCAGATTTTAGCTGAATGGGTTAAAAAATTGTCAGCTGTTTAACTCTAGGAGACTTGTAAAATGAGCTTTAAACAAAAATAAAGGTGGAGTGTTCCTTTAAATAATTATGCTTTATGAAAATGTGGGTTTTGATTGGTTTTCCTTTAGTGTGTGGTGTTTATTGTATAATATCTCTTTATTCGTGTCTATTGATGTCCCATCAGAGTGAGTAACTTCTTTACACCCATCAGTGCACTAGATCTCCTTCAGTGTGTGTGGTTTTTGCTGTGTTGTATGGAGAGTAAGCTGTAGGTGTTTTCGTGCAGGTGTCTGTGGACTCCAGCTCATCTATGCATTCGGGTGGGATGTTGGTCCGTCCATCCCGTCTGTCCTCCAGTGGCTCCCCAATGCTCTCAGGGGTCTCCGAATA[C/A]GAGCTTCCCCAGGACCCACGCTGGGAGGTGCAACGAGACAGGTAACACACAACAAACTCCTTATTTACTGACAATATGGTGCATTCATCTATCCATCCATCTAAAAATACATCCATTCTTCCACCCAACATATCGGTTTATCCATCCAACATATCTGTCCATATATCCAACATATCTGTCCATCCATCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCATCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCATCCAACATACAGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATTCATCCAACATATCTGCCCATTCATCCAACATATCAGTCCATATATCCAACATATCTGTCCATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16812
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 461 809 9 17
ENSDART00000074774 Nonsense 462 810 9 17
ENSDART00000127119 None None 328 8 16
ENSDART00000135166 Nonsense 348 696 7 15
ENSDART00000147742 Nonsense 460 808 9 17
Genomic Location (Zv9):
Chromosome 8 (position 53721685)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51457044
GRCz11 8 51443573
GRCz11 KZ116017.1 2266
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGGGGTCTCCGAATACGAGCTKCCCCAGGACCCACGCTGGGAGGTGCAA[C/T]GAGACRGGTAACACACAACAAACTCCTTATTTACTGACAATATGKTGCAT
Long Flanking Sequence:
TGAGTCTTCTGTAGTTACATTGTTTAATAGCTTCAACAGAAACTGAAAAATTACATTCAGATTTTAGCTGAATGGGTTAAAAAATTGTCAGCTGTTTAACTCTAGGAGACTTGTAAAATGAGCTTTAAACAAAAATAAAGGTGGAGTGTTCCTTTAAATAATTATGCTTTATGAAAATGTGGGTTTTGATTGGTTTTCCTTTAGTGTGTGGTGTTTATTGTATAATATCTCTTTATTCGTGTCTATTGATGTCCCATCAGAGTGAGTAACTTCTTTACACCCATCAGTGCACTAGATCTCCTTCAGTGTGTGTGGTTTTTGCTGTGTTGTATGGAGAGTAAGCTGTAGGTGTTTTCGTGCAGGTGTCTGTGGACTCCAGCTCATCTATGCATTCGGGTGGGATGTTGGTCCGTCCATCCCGTCTGTCCTCCAGTGGCTCCCCAATGCTCTCAGGGGTCTCCGAATACGAGCTTCCCCAGGACCCACGCTGGGAGGTGCAA[C/T]GAGACAGGTAACACACAACAAACTCCTTATTTACTGACAATATGGTGCATTCATCTATCCATCCATCTAAAAATACATCCATTCTTCCACCCAACATATCGGTTTATCCATCCAACATATCTGTCCATATATCCAACATATCTGTCCATCCATCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCATCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCATCCAACATACAGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATCCTTCCAACATATCGGTCCATATATCCAACATATCTGTCCATTCATCCAACATATCTGCCCATTCATCCAACATATCAGTCCATATATCCAACATATCTGTCCATCCATCCAACATATCAGTCCATATATCCAACATATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6106
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 656 809 14 17
ENSDART00000074774 Nonsense 657 810 14 17
ENSDART00000127119 None None 328 13 16
ENSDART00000135166 Nonsense 543 696 12 15
ENSDART00000147742 Nonsense 655 808 14 17
Genomic Location (Zv9):
Chromosome 8 (position 53715642)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51451001
GRCz11 8 51437530
KASP Assay ID:
554-3766.1 (used for ordering genotyping assays)
KASP Sequence:
GAGTGTTGTGTTTTTTTCAGGGTCGTTTGCCGGTGAAATGGATGGCTCCC[G/T]AAGCTCTGTTTGACCGCATWTACACCCATCARAGTGAYGTGTACGTSTAA
Long Flanking Sequence:
CACTGGAAATATTCCTCAGAGATTTTGCTACATATTGACATGATTGCATCACGCAGTTGCTGCAGATTTGTCGGCTGCACATGCATGATGTGAATCCCCCATTACAACACATCCCAAAGTTGCTCTATTGGACTGAGATATGGTGACTGTGGAGGCCATTTGAGTACAGTGAACTCATTGCCATGTTCATGAAACCAGTCTGAGAGGATTCACACTTTATGACATGGCGCGTTATCCTGTTGGAAGTAGCCATCAGAAGATGTGTACACTGCGGTCATAAAGGGATAAAGCCATTACACCGAAATTTGAGTTAACAAGCAGTTAGACAGGTGTACCTAATAAAGTGGCCAGTGAGTGTATATTTACAGCATATGTACTTTCATCCCAGCAGGTTTTGATCGCTTCATTTTTCAAAGCAGATATTAGTTCTGTTTTTGATTATGAGTTATTGAGTGTTGTGTTTTTTTCAGGGTCGTTTGCCGGTGAAATGGATGGCTCCC[G/T]AAGCTCTGTTTGACCGCATATACACCCATCAAAGTGACGTGTACGTGTAAACGCACATTCTCTGCAAATCTCTCAAATACACTGTGCTTTCATAAGTAATAACTCTTGTGTGTTGATGACCTCAGCTGGTCTTTTGGGGTGCTGCTGTGGGAGATCTTCACTCTGGGGGGCTCTCCGTACCCCGGCGTCCCCGTCGAGGAGCTCTTTAAGCTGCTGAAGGAAGGACACCGCATGGACCGACCCTCCACATGCACACATGAGCTGTAAGACTAGTTTTAAAGGGCACCTATTATGAAAAAATCACTTTTATAAAGGGTTTAAATGTAGTTGTGTGGTGAGAGTGTGTGAATATATCCAGTCTCTAATTGTAAAAATGTATTAATTATTTTTTTTAAATCACACTTGATATAAACAGTCTGCAGAAACACTTTGATTGACATTCTCCAGTTGTACGTGTCATCAGAGGGGGAAAGCCCCGCCCACTAGTGACTATCTCTCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
hu3264
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 670 809 15 17
ENSDART00000074774 Nonsense 671 810 15 17
ENSDART00000127119 None None 328 14 16
ENSDART00000135166 Nonsense 557 696 13 15
ENSDART00000147742 Nonsense 669 808 15 17
Genomic Location (Zv9):
Chromosome 8 (position 53715513)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51450872
GRCz11 8 51437401
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACTGTGCTTTCATAAGTAATAACTCTTGTGTGTTGATGACCTCAGCTG[G/A]TCTTTTGGGGTGCTGCTGTGGGAGATCTTCACTCTGGGGGGCTCTCCGTA
Long Flanking Sequence:
GGACTGAGATATGGTGACTGTGGAGGCCATTTGAGTACAGTGAACTCATTGCCATGTTCATGAAACCAGTCTGAGAGGATTCACACTTTATGACATGGCGCGTTATCCTGTTGGAAGTAGCCATCAGAAGATGTGTACACTGCGGTCATAAAGGGATAAAGCCATTACACCGAAATTTGAGTTAACAAGCAGTTAGACAGGTGTACCTAATAAAGTGGCCAGTGAGTGTATATTTACAGCATATGTACTTTCATCCCAGCAGGTTTTGATCGCTTCATTTTTCAAAGCAGATATTAGTTCTGTTTTTGATTATGAGTTATTGAGTGTTGTGTTTTTTTCAGGGTCGTTTGCCGGTGAAATGGATGGCTCCCGAAGCTCTGTTTGACCGCATATACACCCATCAAAGTGACGTGTACGTGTAAACGCACATTCTCTGCAAATCTCTCAAATACACTGTGCTTTCATAAGTAATAACTCTTGTGTGTTGATGACCTCAGCTG[G/A]TCTTTTGGGGTGCTGCTGTGGGAGATCTTCACTCTGGGGGGCTCTCCGTACCCCGGCGTCCCCGTCGAGGAGCTCTTTAAGCTGCTGAAGGAAGGACACCGCATGGACCGACCCTCCACATGCACACATGAGCTGTAAGACTAGTTTTAAAGGGCACCTATTATGAAAAAATCACTTTTATAAAGGGTTTAAATGTAGTTGTGTGGTGAGAGTGTGTGAATATATCCAGTCTCTAATTGTAAAAATGTATTAATTATTTTTTTTAAATCACACTTGATATAAACAGTCTGCAGAAACACTTTGATTGACATTCTCCAGTTGTACGTGTCATCAGAGGGGGAAAGCCCCGCCCACTAGTGACTATCTCTCCCTCATTAGCATAGGACGTTTGTCTAGTCTTTGAATCTGCCGCTATGCTGACACACAGGCACTTGTAGCTCCGCCCTTATTTAAATACAGCACAATCTCATTTGAATTTAAAGCGACAGTCACCAAAGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34510
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024882 Nonsense 752 809 17 17
ENSDART00000074774 Nonsense 753 810 17 17
ENSDART00000127119 None None 328 16 16
ENSDART00000135166 Nonsense 639 696 15 15
ENSDART00000147742 Nonsense 751 808 17 17
Genomic Location (Zv9):
Chromosome 8 (position 53712846)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 51448205
GRCz11 8 51434734
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCATGCTGTCAGATTAAAACCCATTCTACATCTTCCATCTACAGGAGTA[T/G]CTGGACCTGTCCGTATCTCTGGACCAGTTTTCTCCAAACTTCCCGGACAC
Long Flanking Sequence:
TTATATAATAAAAGTTATTAAAATTATTCAAAATTATTTTTATTTTATTTTTATTCATAATTAGTTAAAATTATTATACTTATTGTATTATTATTACTATTAGTTTCTTGTTCTTCTTCTTCTTATTATTATTATTATTAAGTATAAATATAATTAAATTCTATGTTTATCATTGGATAATAATAATAATAATAATAATGTTAATAATAATATGTGATATCTTTCATAAGGAAATAATTAATAATTATTGTAAATTAGTTTTATCGTTTATTATATGGTAAAATAGTCATTATTATTATTATTATTATTAATATTATTATTATTATTATTATTATTATTGTACAAAAAAATTTACTTAAATTGCTGTTATCCTTATTATTAAAATTGTTGTTATAAAATACTTTCTTTTATAAAAATCAATGTAAAAGAATACGTTTAATACTACTATAAATCATGCTGTCAGATTAAAACCCATTCTACATCTTCCATCTACAGGAGTA[T/G]CTGGACCTGTCCGTATCTCTGGACCAGTTTTCTCCAAACTTCCCGGACACTCGCAGCTCCACCTGCTCCTCAGGTGAAGACTCAGTGTTTTCTCATGACGCCGGAGCCGATGAGCCCTGTTTGCCCAAATTCCCACCCCATCCCAACCGAGGAGTGGCCTTTAAAAAGCGCTGAGGACTCATTTACTCAGTGTGTGTGTGTGCAGACTTATGAACTCTGGGAGAAACACATACAGCTGCACACAAAACCGCCAAAGCTTCAAGTGCTTGAAATACGGACTATCACTGCTCCTGAAACGCTGGAGGACAGGAAAGTGGTACTCGGATGTTCTCAAAACTCAAATACATCCGTCATTGTACGATCTCCAGATTGACTGGCGTTGGGGGCGTTGATGTTTTTTATCGCTGTTAATTTTAGCATCCAAATCGTTACGAAACAAACTGAGATCCACCGAAATGGTCCGCCCGAATGTATTTTTACCAACGGGTTGATCTGACTTG
Associated Phenotype:
Not determined