Busch Lab

ZMP

kita

Ensembl ID:
ENSDARG00000043317
ZFIN IDs:
ZDB-GENE-980526-464, ZDB-GENE-980526-464
Description:
Mast/stem cell growth factor receptor [Source:UniProtKB/Swiss-Prot;Acc:Q8JFR5]
Human Orthologue:
KIT
Human Description:
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog [Source:HGNC Symbol;Acc:6342]
Mouse Orthologue:
Kit
Mouse Description:
kit oncogene Gene [Source:MGI Symbol;Acc:MGI:96677]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa6630 Nonsense Confirmed mutation in F2 line Not yet available
sa37018 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa18325 Nonsense Available for shipment Available now
sa44936 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa29347 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6630
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011135 Nonsense 187 972 3 21
ENSDART00000108974 Nonsense 178 803 2 18
ENSDART00000110967 Nonsense 194 979 2 20
Genomic Location (Zv9):
Chromosome 20 (position 22441161)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 22469328
GRCz11 20 22369001
KASP Assay ID:
554-4559.1 (used for ordering genotyping assays)
KASP Sequence:
TGAGGGATGTTACGTCTGCGTCGGAACTTTGGATGCCGCTACGGTTAAAT[C/A]AGGAAGATATCAACTTACTGTTCGGCTTGGTGAGAGACAAAAATGRAGAW
Long Flanking Sequence:
CATTCTGTGCCATGTGATTTTTCAAGCATGTTCTTATAATCCAACTTAACGAACACTTAAACTCAGTCCTTGGCAGATTTGTTTTTCCAAGTGTAAACACTGTTGGTGTGGGTTGCTTGTATTTGTTTGTTAGGTATGATGGAGGGTTGTTTTTCACTTTCTCTCTTTCTCTGAGCTGTAAAGTCTTGATCTAAGCCCCCTTGGTTGTGTTTCATTGGTTTTTGATTTAGCATTCCTCTCAGCAGATCCTGAAAATCCCTTCAGGAGGACCATCGTGTTCGACATTGTTGCGGCAGAAGGAGATACGACGGTGATCCCATGCTTGGCAACAGACCCAGATATGAAAAACTTGAACCTGCAGAAATGTGACGGACAGCCCCTTCCCAACAGTCTGCGATATTCAGCCAGTCTTGAGACAGGAGTGTCCGTGGAAAAAGTCAGGAAGGAATTTGAGGGATGTTACGTCTGCGTCGGAACTTTGGATGCCGCTACGGTTAAAT[C/A]AGGAAGATATCAACTTACTGTTCGGCTTGGTGAGAGACAAAAATGGAGATATGCATGAATATTAGAGCTGTCAATTTAGTCTGAAGTGTAGTTAAGAAAGACAAATATATATATATATATATATATACAGTTGAAGTCAGAATTATTAGCCCCCATGTTTTTTTTTTTCACCAATTTCTGTTTAACGGAGAGAATATTTTTTCAGTACATTTCTAAACATTATATTTTTAATAACTTATTTCTAATAACTGATTTATTTTACTAGCCAAAATAAAACAAATAAGAGTAACTCCAGAAGGAAAAATATTATCAGACATATTGTAAATATAAAAAAATTGTAATGGTCAATAAATCTGACTTCAACTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACTTTTGATATTTAAAATAATGCTGCATAATAATAAAATACAGTAATTTAATTGCCAAG
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
Larval:Day 5
ZFS:0000037
melanocyte
ZFA:0009091
present in fewer numbers in organism
PATO:0001997
abnormal
PATO:0000460
Larval:Day 5
ZFS:0000037
melanocyte
ZFA:0009091
quality
PATO:0000001
abnormal
PATO:0000460

Mutation Details

Allele Name:
sa37018
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011135 Essential Splice Site 579 972 12 21
ENSDART00000108974 Essential Splice Site 570 803 11 18
ENSDART00000110967 Essential Splice Site 586 979 11 20
Genomic Location (Zv9):
Chromosome 20 (position 22421836)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 22450003
GRCz11 20 22349676
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGGGGACTGTATCAATATTCTCAATCAGATTTGCTTTCTTTCATTTCC[A/G]GGAAAAACTCTTGGATCTGGAGCATTTGGAAAGGTGGTGGAGGCAACGGC
Long Flanking Sequence:
GGTATTCATGGAAACAACTATGTGTACATTGACCCCACTCAGCTTCCATACGACCACCAGTGGGAGTTTCCCAGAGATAAGCTGCGATTTGGTGAGTCTTTGAAAGTCTTCTTTAAAATGACTAAATCATATTCCAAACCACTTCTAGATATTGAAATATTTCTTTTGTTTGGAAAGGTTTATTGCTCCAGAAAAAATAAACACATTTCACACAGAACAAAGCTTGCTTCTTTTCACTGTTGGCTGTTGCCCAGTTTATGACACCGATAGCTGCCGCCTTCCCCGTGAAGGAATAGCTGTATCCGTCAACAAACAGGATCTAACAGGATCTAGCATATCCCACTTCCCCACAAGCCACACCTCTTTGATTCAAAAACAAGTTTATGTTCCAGTTGATAGCTGGTTTTGGATCAAGCCCCAATGACTGTAAACAAAAGTAAAACTGATGTGTGTGGGGACTGTATCAATATTCTCAATCAGATTTGCTTTCTTTCATTTCC[A/G]GGAAAAACTCTTGGATCTGGAGCATTTGGAAAGGTGGTGGAGGCAACGGCTTATGGGATGTCCAAAGCAGACACTGTGATGACGGTAGCTGTGAAGATGCTGAAACGTGAGTGAAAAGCAACGTAGAGTATGTTCAGAGTTTTGTGAAATACGAGTTGAATTGTTACAACAAGGCCTGTTTGACCAGCACGTTTATTTAAGCAAATGAGGCAGCGAGTAATGACACACCAGAAAGTACACAAACCTGCCTGATGAGAAGAGCAATGGTTAAACATTTGCAGTAACCCACAAATTTTGGTTCCCAGAACACTCTGGAATTGTTGGTTTATGCCTTTGAGCCATAATACCTTTAAATAAAACAAAGATTCACCGATCTGAATTACAATGTGTAAACTATTGTAAGAACCAAACATTTAGAATTATGATATCACAAAAACAGAAGAATTTTGAGGAACAAAGACAGATGAGAATTCAGAATTATCGGACTGGTTTTACCAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18325
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
ENSDART00000011135 Nonsense 661 972 14 21
ENSDART00000108974 Nonsense 652 803 13 18
ENSDART00000110967 Nonsense 668 979 13 20
Genomic Location (Zv9):
Chromosome 20 (position 22418980)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 22447147
GRCz11 20 22346820
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAACTGGTYTGTTGTGCAGGTCCAACTCTAGTTATAACAGAGTACTGCTG[T/A]TTCGGCGACCTGTTGAACTTCCTGCGCAGAAGGAGAGTATATTTCTACTA
Long Flanking Sequence:
CTTATTTTCTTGCAAAAATGTGTATAATAAAAATACATTTTTAGAAAACAAATTTGCAGGTTTGAAAAAAAAAAACTTTCAGAACTCTGACAGTTTCTTGCAGTTCTGAGATATTATTTAGCGAAAATTGCATAATGTATTTATTTAATCCTATAGCAGAAATGGAATTGCATTGATGTATTATAACAAAACTGTGTTTTATTTATTTATTTGTATTTATTTATTTTTTTGTATTATTCATGGTCTGTGTTTTTTTTTTTTTTTTTCCTATAGCGAGTGCCCATGCAACAGAGAAAGAGGCTCTGATGTCAGAGCTGAAGGTGCTTAGTTATCTTGGCAACCACATTAACATTGTCAACCTGCTTGGGGCATGCACTGTTGGAGGTGAGAGACCAACATTAAATATTATTTTTGCAGGTTTTTGCAGTGAATTGTGTGTTCTTCATTGCCAAACTGGTTTGTTGTGCAGGTCCAACTCTAGTTATAACAGAGTACTGCTG[T/A]TTCGGCGACCTGTTGAACTTCCTGCGCAGAAGGAGAGTATATTTCTACTACACAACACTAGGCGAAGATGCTTACTATAGAAATGTCATGATGCAGTCAGAACCAAAGTAAGTATCATAAGTATCATAACTGGTGAAGTTGAATAGCATGAAGATTCCTCCTGGATTCCCTAAAAAAATTATATTTGATCCCAGTGACAGCAGAAATGGATACATGACCATGAAGCCCTCTGTACTGGGAATCCTGTCCTCCGAAAACAGACGATCACTTAATAAAGGTTGGATTTATGTCTTGTGACTTCTTTACTTTAGGTCTTCTTGTCTTTTAACTTTTCATGTCATTTCATCTCTTGTTTCATCTCATTTCTTCTTAGTTCTCCAATTGTTGTCTTGTCTCTTTACTTTCTAAGAGTCTTCTCTTCAGCTCACCTTGTCTCATCTCTTTTTGTATTTTATTTTTGTCTTTAGTGTTCCTTGCACATTTCTCATCCCGTCTCAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44936
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
ENSDART00000011135 Essential Splice Site 768 972 16 21
ENSDART00000108974 Essential Splice Site 759 803 15 18
ENSDART00000110967 Essential Splice Site 775 979 15 20
Genomic Location (Zv9):
Chromosome 20 (position 22418312)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 22446479
GRCz11 20 22346152
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTCTCCTACCAAGTAGCCAAAGGGATGGATTTTCTAGCATCAAAAAAC[G/A]TAAGTGTTTCTTTAGTGAATGTTTGGGAGGAGCCTAATCTTTCCTGTCAA
Long Flanking Sequence:
CCCTAAAAAAATTATATTTGATCCCAGTGACAGCAGAAATGGATACATGACCATGAAGCCCTCTGTACTGGGAATCCTGTCCTCCGAAAACAGACGATCACTTAATAAAGGTTGGATTTATGTCTTGTGACTTCTTTACTTTAGGTCTTCTTGTCTTTTAACTTTTCATGTCATTTCATCTCTTGTTTCATCTCATTTCTTCTTAGTTCTCCAATTGTTGTCTTGTCTCTTTACTTTCTAAGAGTCTTCTCTTCAGCTCACCTTGTCTCATCTCTTTTTGTATTTTATTTTTGTCTTTAGTGTTCCTTGCACATTTCTCATCCCGTCTCAGCATGTTTTATGTCTTACTTGAATTTTTCACCCTTTAAGGGGATTCGTACAGTGATTCTGATGCCGTCAGTGAGATTCTGCAGGAAGACGGCTTGACTCTGGACACTGAGGATCTTCTCAGCTTCTCCTACCAAGTAGCCAAAGGGATGGATTTTCTAGCATCAAAAAAC[G/A]TAAGTGTTTCTTTAGTGAATGTTTGGGAGGAGCCTAATCTTTCCTGTCAATCAATATTATACACAAGTGTGTATAAGCAGTGTACCAGCAACATCTCTTCTGGCATTCGGGTCCAGCCAATCCTGTGAAAAATGTCTAAAACAGATGAACTGCTGTTTTTAACTTTGACAATGAATTTTCGTAAAGCTGCTTTTATTATTGAGCTTTTTCCAAAACCTCCCAATCGCTGGTCTCCCAAGTAGAGAGAATATTTAGGATTGGGGCCACCCCTCTAGGCATCCTTCTGCAAATTCGCTAAGGTGCCGCCACTAACTTCGATCTTCTTCGCCTCCGTGTAGGCATCCATGTACCCCAGCTGTTTCAACTTCTCCATGCACTTCAGCTCATCTGGTTTCATCTGGAATATCTCCCATCACTTACATAAAAATGAGCTGTTAATAGGTTGTGGCATGTGCTTGCCATGTGTTGCTTGCAAATGTAACTTTTTTCTGCACATCCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29347
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011135 Nonsense 888 972 20 21
ENSDART00000108974 None None 803 None 18
ENSDART00000110967 Nonsense 895 979 19 20
Genomic Location (Zv9):
Chromosome 20 (position 22410217)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 22438384
GRCz11 20 22338057
KASP Assay ID:
2261-4233.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACATTGCTGTGTTGTTGTGTTTCAGGTACGATATCATGCACTCGTGCT[G/A]GGATGCCGACCCTGTCAAGAGACCCTCATTTAGCAAGATAGTGGAGAAGA
Long Flanking Sequence:
GCGTGTTTTTAAGCTGTCTGTGCTGTTAAGGAAGGAATGTGTGTAATGAGGGTTTTCTCTGCACAGGCTCGTCTCCCAGTAAAATGGATGTCCCCGGAGAGCATCTTTGAGTGTGTTTACACCTTTGAGAGTGACGTCTGGTCTTATGGCATCCTGCTGTGGGAGATCTTCTCTCTTGGTACGTTCAGCTCATCTCATAATAACAATATTATTATATGATAAACTGCTTGTTCATTCAACCATTGTGCTTTAAAAGGGAGTAGTCCATATCCAGGGATGCCTGTGGACTCTAAATTCTATAAGATGATCAAGGAAGGATATCGAATGGAGTCTCCGGAGTTTTCCCCAAGTGAAATGTAAGTTTGAGATGTGAGAAGTTCTGTAGGAAGATAATGACAAGATAATGAAACCATTTACATGCTACAAAAATGTTCCCAGACATACTGAAAAAAACATTGCTGTGTTGTTGTGTTTCAGGTACGATATCATGCACTCGTGCT[G/A]GGATGCCGACCCTGTCAAGAGACCCTCATTTAGCAAGATAGTGGAGAAGATCGAACAACAGATTTCAGACAGCACTAAACACGTAGGCTGCTTTCTTTATCTTCTCTTTTAGCTCTCAAAACTTTGTAAAAGTGCAAGGATTAATAACAAACTTGTTTTGTTTTCCAAAATAGTTTTTTAATACACAAACTATAAACTTTTACTATAAACTTGTTTAAAAGCAAATTTGCTTGTTATAGTTAACTTAAAACCATTTTTAAAACCATAAAGTGTCATCTCAAAAAATAATAATAATAAACCTGCTTTCTGCCAAGGAAATATTTCCCATTTTCATTCAGGTTAGTTAAAAAAAATAACAATGTAACCAAAATAAAAACTAAAATGTAAACAAATCAAAAATACACACATACTTGAGAATTTTTTCAGTACAAATGACAATAAAACGCAACAAAATAACGAAAACTTTAAAAATTAACATAACACTTTTTTTATGAATTTGT
Associated Phenotype:
Not determined