Busch Lab

ZMP

igf2r

Ensembl ID:
ENSDARG00000006094
ZFIN ID:
ZDB-GENE-041014-300
Description:
cation-independent mannose-6-phosphate receptor [Source:RefSeq peptide;Acc:NP_001034716]
Human Orthologue:
IGF2R
Human Description:
insulin-like growth factor 2 receptor [Source:HGNC Symbol;Acc:5467]
Mouse Orthologue:
Igf2r
Mouse Description:
insulin-like growth factor 2 receptor Gene [Source:MGI Symbol;Acc:MGI:96435]

Alleles

There are 9 alleles of this gene:

Allele Name Consequence Status Availability
sa23790 Essential Splice Site Available for shipment Available now
sa30718 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43514 Nonsense Mutation detected in F1 DNA Not yet available
sa23791 Nonsense Available for shipment Available now
sa23792 Nonsense Available for shipment Available now
sa43515 Nonsense Mutation detected in F1 DNA Not yet available
sa14455 Nonsense Available for shipment Available now
sa29440 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa23790
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
ENSDART00000061101 Essential Splice Site 394 2459 9 47
Genomic Location (Zv9):
Chromosome 20 (position 42621892)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42693051
GRCz11 20 42590161
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGCGATGTAAAGAAGATTGCTGGAAGATACCAGAACCAAACCCTGAGG[T/C]TCACTTCATGTGATTCTGATATGCATAAACCTTAAATGTGGCTCAAAACC
Long Flanking Sequence:
TGTTTTTAAATCTGCCACTATGCTGACACATAGGCTTTTGTAGCTCCGCCCTATTATGAAAAAGAGCAAAATCTCATTTGAATTTAAAGTGACATTCACCAAAATGGCACAATTAGGATCAAAGCCTAACGGGGCAGTTTTAAAGAGTTATAAAACATTATTTGTGAGGTACTTTGAGCTGAAACTGCACATACACACTCTAGAGACATCAGAGACCTAATTTACATAGGTCCCTTTTAACATAAACAAAAAGCGCAGTTGTGGTTCATCAAGTATCCTGCTTTACCTTTCTTCCTATTTCTTTTATTCTAGCCACAGATACACCATACATGGCTGAGGCCAAAAATGGCAAGGACACCTACTTTTTCTATCTGAACGTGTGTGGAGGGACCAATGCTGGACAGTGTTTTGACGACAAAGGATACATCTCTGCCTGCCAATTCAAAGAGAATGGCGATGTAAAGAAGATTGCTGGAAGATACCAGAACCAAACCCTGAGG[T/C]TCACTTCATGTGATTCTGATATGCATAAACCTTAAATGTGGCTCAAAACCAACTGGTTATGAACATTATCTTTTTTTCTTTTTTGTTTAAATCTTTAGATATTCAGATGGTGATCTCACATTAATCTACCCAGACGGCAGCAGATGCAGCACTGGATTCCAGCGCATGACTATTATTAACTTTGAGTGCAATGCAACTGCTGGTGAGTGATAGTATTGACAGTGACAGCTATTCCGAATCTGATAACTTTTAGCAATATTGTATATATAATCTTTTAAAAAGACACTACTTCCATTCCATGTGTTTGAGAGATAAAAATAATTAAACTGGATCAGATTATGGAAATAAAAATGGAGCTGTACACTGAAAAGTCTTTAAAATTTACTGTAGCAAAACAGAAACTTTGAATTATCTGTTAAAGGGCCATGAAACCCCCTCATTTCAGCAGGGTGTTTTCACACCTCAACTTTGGAAAAAGTCAGAAAAGTGGGCGTGTCCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30718
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
ENSDART00000061101 Essential Splice Site 480 2459 11 47
Genomic Location (Zv9):
Chromosome 20 (position 42624048)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42695207
GRCz11 20 42592317
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGACCACAAGAAGAGATATGATTTATCTCCTCTTACACGATTCCCAGG[T/C]AGAGATGAGCAAGATTACTCACTAATTGGAACGTTTTTTTATTTTTTATT
Long Flanking Sequence:
AGCTATTGTGACAGTCCTACCAACAACACATTATAGCTACTCTCATGTTACATGTTTGTGGGTATTTTAAGAGTATATCTAGCTGTTTCCATCCAGCATGTTTTTTTTTATGTAGTAGGCCAAAATATAAATGCAAACGTAGCTTAATAATGTTAAATATGTCATACTTGTGGAGTCAGCTGCTGATGAGACTGCTGTTTTTACCGTTTCAGTTTGAGGAACTTTAAATGGATAAAAAAACATAAGTGGGGAACTGCAAAAGCGTGACCTAGACGTCACCTTGTTTCATGTCAGAATTGTTGTTTTTTTCTGTCTGTTTGGCTCACTGCACACTTGTGGTTTTCAGGGAACGGTCAGCCGGTTTTTACAGGAGAGTCTGACTGCACGTATTACTTTGACTGGCAGACGTCGTACGCATGTGTGGAGAAGGAAGACCTGCTGTGTCGAGTCACAGACCACAAGAAGAGATATGATTTATCTCCTCTTACACGATTCCCAGG[T/C]AGAGATGAGCAAGATTACTCACTAATTGGAACGTTTTTTTATTTTTTATTTTTTTACTACAGTTATTTTAGTGTTTAAATAACTCACAACAAATCACAATTAAATAAACACAGTTAATACAGTATTTTACATATTTTAATATTTAACAATACAAACATTCATTTTGAAAAATATTTTTTTTATTGGCTCTCTGTTTGAATATATTTGCAAGTGGAAAATTGCTATTGATTACACAAAGTTCATGGGACTTGAAATTTAAATATTTTGTAGCATTATAAATGTCCCTATCCATCCATCCATCCATTCATCCATCCATCTTTAATTATTTTATTAGTTGATGTTGGAATGGTAAACACTTTGGATATTAGAAAACAAGGAACTTAGTAAAAAAAAAAACACTTTAGAAATATGTTGATTTGATTTCATGTTAGTGATATGGTTATTTAATGTAAAAAAAAAGCATTATTATAAAGTAAAATAAGTATTCATAAAATGAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43514
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061101 Nonsense 650 2459 14 47
Genomic Location (Zv9):
Chromosome 20 (position 42628487)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42699646
GRCz11 20 42596756
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGAAATCTAATGGAGGCTTTTATAACATGTCCAGTAAGAAGTATGACTA[C/A]TTCATAAACGTATGTGGAAATGTTAAAGCCGCACAGTGTCCAGAAACAGC
Long Flanking Sequence:
TTTAATTCATTTTAATTTTTGTTTATTTTACTTGAACTTAATTTAAATAAATTTTAATTGAATTTCTTTTTTCATAATAATTTATTTTACTTTTATTGAACTTATTTTAATTTATTTTATTTTTATTTTTTTATTTATTTTTTTAATGGATTTTAATTTAATAAAAAATTATTGTTTACATTTTTATTTTATTTATTATTATTAATTATATTATTTAATTATTTATTTATTAAAAAAAATTTTTTTTTGTTTTAGTATTTATTATCATTAAGTCATGTAAATTGTTAAAAAAATTAAACAGCCTTTATTGACATGGTTATTAATAAAAAAAAAACCCAGCAATATACGCCTAACTCTATATTGGGGGTTGTTTTCGCATGTTGTAGGACTGCTTTTAAATATGCATCTTCTTTTTTTCCTTCAGGAATTTCGTTTGATTTGTCTCCGCTTCAGAAATCTAATGGAGGCTTTTATAACATGTCCAGTAAGAAGTATGACTA[C/A]TTCATAAACGTATGTGGAAATGTTAAAGCCGCACAGTGTCCAGAAACAGCAGGGGCTTGTCAAGTTGACCAGACGTAAGTTCAATTTTAAATTAACTTTTATTTATGAAGCTAAAAAAATCAACAGTATTGACCACTGTGCTGTACAAAGTGTCTGCTAAAAATGATAATAAATAAGTATAAATGATCACAGTGCACTTAAAAAAAAAACAAGAGGGTCAATGTGTGAATGTGGTTGCATAATACAACTACTTTTATTTAGATGTTGTTTACCTTACAAAAATTCACTTTAACGTTAAATGATTTTCACTGTGCAGCTTCAATATAATGTCAGTTGCAGTCAGAACATATTTGTGACCCTGGAGCTCAAATCAGTCTAAGTTGCACATCTATATTTATGTGAAAAGGAAAAAATACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGGAAGAATATGTACAATTACAGAATGTTTGCAAATATATAAAAAAAGA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa29439
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061101 Nonsense 656 2459 14 47
Genomic Location (Zv9):
Chromosome 20 (position 42628503)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42699662
GRCz11 20 42596772
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTTTATAACATGTCCAGTAAGAAGTATGACTACTTCATAAACGTATGT[G/T]GAAATGTTAAAGCCGCACAGTGTCCAGAAACAGCAGGGGCTTGTCAAGTT
Long Flanking Sequence:
TTTTGTTTATTTTACTTGAACTTAATTTAAATAAATTTTAATTGAATTTCTTTTTTCATAATAATTTATTTTACTTTTATTGAACTTATTTTAATTTATTTTATTTTTATTTTTTTATTTATTTTTTTAATGGATTTTAATTTAATAAAAAATTATTGTTTACATTTTTATTTTATTTATTATTATTAATTATATTATTTAATTATTTATTTATTAAAAAAAATTTTTTTTTGTTTTAGTATTTATTATCATTAAGTCATGTAAATTGTTAAAAAAATTAAACAGCCTTTATTGACATGGTTATTAATAAAAAAAAAACCCAGCAATATACGCCTAACTCTATATTGGGGGTTGTTTTCGCATGTTGTAGGACTGCTTTTAAATATGCATCTTCTTTTTTTCCTTCAGGAATTTCGTTTGATTTGTCTCCGCTTCAGAAATCTAATGGAGGCTTTTATAACATGTCCAGTAAGAAGTATGACTACTTCATAAACGTATGT[G/T]GAAATGTTAAAGCCGCACAGTGTCCAGAAACAGCAGGGGCTTGTCAAGTTGACCAGACGTAAGTTCAATTTTAAATTAACTTTTATTTATGAAGCTAAAAAAATCAACAGTATTGACCACTGTGCTGTACAAAGTGTCTGCTAAAAATGATAATAAATAAGTATAAATGATCACAGTGCACTTAAAAAAAAAACAAGAGGGTCAATGTGTGAATGTGGTTGCATAATACAACTACTTTTATTTAGATGTTGTTTACCTTACAAAAATTCACTTTAACGTTAAATGATTTTCACTGTGCAGCTTCAATATAATGTCAGTTGCAGTCAGAACATATTTGTGACCCTGGAGCTCAAATCAGTCTAAGTTGCACATCTATATTTATGTGAAAAGGAAAAAATACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGGAAGAATATGTACAATTACAGAATGTTTGCAAATATATAAAAAAAGATCCTCCACATTTTACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23791
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061101 Nonsense 751 2459 16 47
Genomic Location (Zv9):
Chromosome 20 (position 42634201)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42705360
GRCz11 20 42602470
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGAGGATGAGTACACGTATAACTTTAAGTGGTACACTTCCTACGCCTG[T/A]CCAGAGAGATTACATGAGTGTGTCGTGACAGACCCCGAAACTCTTCAACA
Long Flanking Sequence:
TTTTGTAGTCAAGAGTTACACTTGATGTTTAGTGTGTAAAATATGATTTCTACAGCCAATCAGACTTGACCGTAGGTGGACTTAATCTCTCTTTGCTTTACCTCTTCAGCGGCAAATCGTCTTGGAATCTCGGCCAGTTCAACTCCAAGCTTTCTTATTATGATGGCATGATTCAGCTGACCTACAGAAACGGCTCTCAGTACAACAACAAGCAGCACACGCAGCGATCCACACACATCTCCTTCCTCTGTGACCGAGAGGCTGGTCCAGGAAAACCAGAGTTTCAGGTATCGCACCTGCTCCTTTGTTATGTTTGTGCTGAATGTAGATATTTTTAGCCCTACATAAGGTGACTCTGCATAATAAATGGCCTGCATGTGTGAAATTTTTTTTTTTGTGTTTGAAACTTTGCATTGACTTTGCATTTAAAAGACTTTCTTTCTTCTGCAGGATGAGGATGAGTACACGTATAACTTTAAGTGGTACACTTCCTACGCCTG[T/A]CCAGAGAGATTACATGAGTGTGTCGTGACAGACCCCGAAACTCTTCAACAGTATGACCTGTCCAGGTTAGTCTGCATTCAGCAAATAACTGTTATTAGCGCATGACTGAAATGTTACAAAATTTTGACATGTTTTGATTTTGGTTGCACTTAACTTGGTTTAAAGGGAATACACACAGTCCAGCCCGAAATTATTCAAACCCCTGGGAAATTCTGACTTAAAGTTACTTTTAGTTTAAATTTTAGTACTTGGCTGATGATTTCCTTATATAGCCATTAACCAAAAAAACCCAAGCACATTATTGGTTGACCCAGTGTTGCTTTTTGGCATATTTAAACAAACACTATAAAAGACTAACCTATTAAAGACATGTACTGTATTTGTCTGAATTGATGGACCAATTTATGAACAATTTACTCAAAAAAACTACTTTATTTATTGTGCATGAATGTTTGATTTAATTTAATTTTTTTTAACCTTTTTTTCTTACAGTTCATAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23792
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
ENSDART00000061101 Nonsense 1100 2459 23 47
Genomic Location (Zv9):
Chromosome 20 (position 42645127)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42716286
GRCz11 20 42613396
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGATGAGAAGTCATATGTTCCTCTGGACACCTCGGATCAGGCCCGGTTT[C/T]AGAAGTTTTACGTAAATGTGTGTAAACCACTGCCTCGTGTTCAGGGCTGC
Long Flanking Sequence:
AATTTGTGGACTGCATCAAAGAGAGCTGTAATGAAATCACTTCTCACTTGATTTCATAGCACGGTATTTGATGGTCCTGTAAAAAACTGATCCAATGAATCTTTGTGTCGTCTTTTCTTTCTAACCAAGATAATAAATGGCCTGTGCACTGCAAAGTTCTAACAAAGAGGTGCTGTTTTCTGTTCTGCCTTTAGTACATGTATCTAATATGCAGTAAAATGTCTTTGCTTATGGCAAAATCAGTACTGGAATCGTTACTCTAACAAAATATAGTTGTAGCACCAGAAAAAGAAAGTCACAAAATGTCACCATTTGGTCACAGTCTGAAGCCCCGCTGAAGTGTGCCATTTATGTATCACTGTTATCATGATTTGGATATGAAAGTCAAACTAATTCCTCTTTCATTTCCAGATTCACAGGGCCGGGAGTATGACCTGGGTGACCTCAGTCTGGATGAGAAGTCATATGTTCCTCTGGACACCTCGGATCAGGCCCGGTTT[C/T]AGAAGTTTTACGTAAATGTGTGTAAACCACTGCCTCGTGTTCAGGGCTGCCCTGGTGAGTGTCTACAGTGCAGATTTGAGAGCCGATTTCCCACTATTTTGTCTAATGGTTAGAATAAATGTCAGTTCCAGTAGTATGACCATGTGAGGACAGAATTTCTTGGTATGGTTGGACAAGTGCACTGTTTATTTATATTTCATATAGTACCAAAAATAGAAATATCCGATCATTGTCTGTATTGCTCTTACCTTACCAAGGTAATAGCTGGCGCATTTGTATTACGTTCCAAAGAGTTTCATTATCAGCACAACAGTGGAACATTAAGCTTAAATTGATGAGAGTGGCTTTCAAAGTGCCTTGTTTCTAGCATGGATCTGAGTACCATGACATACCAGGAGATTAGTTTCATAGTGACTTCCGTGCAATGCAGTCAATGTCAGAATAAATGATCCACACATTTGAATCGGTGCCAAATGTGAAAAGGAAGTGTGCTATTTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43515
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
ENSDART00000061101 Nonsense 1153 2459 24 47
Genomic Location (Zv9):
Chromosome 20 (position 42646136)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42717295
GRCz11 20 42614405
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCAGTCAAACCTCCAGGCCGCAGCAGACGGCTCCATCAGTATTGTTTA[T/A]CTGAACGGGGACAAGTGTGGGACATCAGGACGTTACTCCACCAGAATCAT
Long Flanking Sequence:
ATATAGTGCCAAAAAAAACAGAAATATCTGATCATTGTCTATATCACTGTTTACATTACACTTGCGTTATCAAGGCAATGGCTGGCACATTTGTATTATATTCCAAATACTTCAATTATCAGCACATCAGTGGAACATTCAATTGTATCCATGCTGACTGAACTGGATTGACATGGAATGGAAAGGTAAAGCAAAGAAAACTGTACGGCTCGATACTGGAAAGTACCTTGTTTCTAGCCTGGTTTGGAGTACCGTTGCATACCAGGAGATTTGTTTTCCATAGTGACTTCCATGCAATGCAATAAATTTCATGTGCACATTTCATTTTGTGCCAGATAAAGGGCTGGCACATTAATGAACACACATTTAATGAATGGTCCTGTGTTGTTGACAGCTGGTGCAATTGGAGCCTGCGGACAAATCAACAGCAGTTTTGTAAATTTGGGATACGTGCAGTCAAACCTCCAGGCCGCAGCAGACGGCTCCATCAGTATTGTTTA[T/A]CTGAACGGGGACAAGTGTGGGACATCAGGACGTTACTCCACCAGAATCATCTTCCAGTGTGATGACAGTCCTGTAAGCATATATATTTCTCTTTTAAGTGATAAAAGATTTTTCTCCATAGCACTTTTTACAAATGAGCAATAAATCTATGTCCTTGTTACACAGCATGATATGATGGGAGGGCTATTTCTAGATATCTAGAATGTTTTTTTGTTTTGTTAAAATTGTTTATTAACCATAGATGTATCAGTACGTAGGTGCACAAGATGTACATTACCTTCTTATTGCTGGTATTTGAATGTCACTCTATACCAAAGACTATAAAATACACAAGACGTGTCACCAGTATAGTTTTGAATGGGGAAAAATGTAAAGGTCAATATGGTGATTGAAGCCCTGCCTACTACAGGAGCCTACCATCGATTGCTATAGACTGATCTTTCTCCGGTGGGGAAAGCTCAGACCAGACGTGTGCTTTTATGACAGTTTGGTGGTCAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14455
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061101 Nonsense 1219 2459 26 47
Genomic Location (Zv9):
Chromosome 20 (position 42648823)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42719982
GRCz11 20 42617092
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTGCTGTCACAGGTGAAAACTKCAAAGTCACAGACCCCAAGAGCGGTTA[T/A]GAGTACAATCTCACACCGTTGGCTGGAMARGACTATGAAGTGAAGAGTTC
Long Flanking Sequence:
GTGAAACGCCTGTGTGAACGTGGATCGTTTTAATTCTCAAACGCCATTTAAAAACTAAAACGTATTAATGTAAACAAAGGCTAAAGCTTAAAATCATACTTGCCCCGTCTTATAGTAGTGTAAATTAATTACCGTGCAGAAAGATCAAAAGATCCGAAAGATCAAATAGCAAGATCATAAGTGACTTAAAATCATTTTCCAGCATTGTTGTATTTTAATTATGGAACGTTTCTCCAATATTAAAAAAAATATATATTGTTCTTTAACCTTTATTCCTTTCTTCTGTTAAAAGGGTGCACCGATGTTCGATCGCAAAGATGGCTGTGAGTTTGTTTTCATCTGGAGAACCTCAGAAGCTTGCCCAATCAAAAGAGTCCATGGTAAGATGAACAGTCAGTCCATTTGAAGGCAATGAAAAAATACTTGGATTTTGACTAATTTTAGCTGCTCTCTGCTGTCACAGGTGAAAACTGCAAAGTCACAGACCCCAAGAGCGGTTA[T/A]GAGTACAATCTCACACCGTTGGCTGGACAGGACTATGAAGTGAAGAGTTCGACCTATGAGTATCATTTCGCAGTCTGTGGCCCAATTACAACCTCTGTCTGCCTTCACGATGCCAGCCAATCTGTGTCCTCCTGTCAGGTCGAGAACCAAAAGCACAGGATTGCAGGTGAGCTTATTTGTTTCTGTTTGTTATCAAGGTGAGCTGTTTAATGTCTAATAGAGCTACGTCAATGTAGTGATTAGGGCTGCATAATATATATCAAAAAATTATCACAATAATTATTTGCACTTTTCTGAGATATGGATATTGCATTTACTATTAAGTCAAGTATTTATCTGCTGCATGCACATGTCAGTTGTATATTCAAGTCTGAACAATCAGATGGCTCCTTTACTATTATTATCTCTGCCTCATCAGTAATTCCTGTTAAGTGGAAATAAATACTTGTGCTGGGAGACAAGAGAGGAAAATGACAGCAGCCTATAAGAATCAGAATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29440
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
ENSDART00000061101 Essential Splice Site 1928 2459 38 47
Genomic Location (Zv9):
Chromosome 20 (position 42674680)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 42745839
GRCz11 20 42642949
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTACAAACGACTATAACAAAGATAAGAAATGGGGCTTTTGTACTGACGG[T/C]ATGATTGATTCATTATGTAAATCATATAATTTATTGAGCTAATAAAATAT
Long Flanking Sequence:
CTTGTTTAAGAAAGTGTTTTAACAAGATTAAAAATAGCAAAATTAAGTATCTTTCAAATAATAATACAAAACTATACATACTAATGTTAATCAAAACATTTCATGAGCGTATATAATCTTTGAACTTATGTAAACACACTTAAGACATTTTATTTTGCAAAATAACAAATGAAGTATAGTTTAAGAGGCATCCTTTTTGCCAAATTGTATTTTAAGGTAATTCCAGAATGCACTGCAATCAATCAAGGTTGATGGCTAAGTTGGAATCTGACTAAATAATCTAGTTGCAAATCTAGCTCTTCCTAAATGAATAATATCAGTTTGTTTGTTTGTTTATGTTTTTCAGTAACAGATAAACATGAAGTATGCGCTTTTCCCTTTATGATATTGAGTAACAATTACACTGAATGCACAACTGAAAGCAGGACTGATGGCAGGAAGTGGTGCGCAACTACAAACGACTATAACAAAGATAAGAAATGGGGCTTTTGTACTGACGG[T/C]ATGATTGATTCATTATGTAAATCATATAATTTATTGAGCTAATAAAATATGTATATTAAAATAGTAATAATAATTAATAAATTTAATAATAATTAATAAATTATATATATATGTATGCATGTATGTATGTATGCATGCTTGCTTGCTTGCTTGCTTGTTTGTTTGTTTGTTTCCTCCTTAAGAACTCTGTCAACAACATGACAGACTTGTTTAATTTAAAAAGTTTGTCTTTACAAAACAATATAAATAAACAATTTTTTACGTTAATAAGTAATTTTAGGCACACTTGAAATGTGAAATTGTATGTATGTATGTAAGTTTTTTTAGGCAAATAGTGCTAATTACATAAGTTGTAATTAAATGAGTCATTTTTAAAAACTGTTGTGTAATTATTAGTTTCTGCAGTTTGTTTGCATGTAACTTGAACATTTGATGTATATTTTATTTGTTTATTTGAATGTTTTATTTAGATGTGTGTTCATGCCAAGTAAATGTGCTTC
Associated Phenotype:
Not determined