ZMP
si:dkey-246i14.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
SHC1
Human Description:
SHC (Src homology 2 domain containing) transforming protein 1 [Source:HGNC Symbol;Acc:10840]
Mouse Orthologue:
Shc1
Mouse Description:
src homology 2 domain-containing transforming protein C1 Gene [Source:MGI Symbol;Acc:MGI:98296]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa36114 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa36113 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36114
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000098400 | Nonsense | 280 | 554 | 10 | 15 |
ENSDART00000147609 | Nonsense | 185 | 449 | 8 | 13 |
The following transcripts of ENSDARG00000075437 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 24973466)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 22877782 |
GRCz11 | 16 | 22793172 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTATCCTGTGTTGTAGCGTGTCATATCCTGGAGTGCTCTGAAGGCT[T/A]GGCTCAGGAGGTCATCAGCACCATAGGTCAGGCTTTCGAGCTCCGCTTTA
Long Flanking Sequence:
CTTATATTGGGACTTGAAGGAAAGCAATGCAAAGACAGTATTTTGACACAGTCTGGCTTTACATAGCATCTTTTTGTTTGTCATCTTTATTGTTGATGCGTTTCAACTCAAAAATGGTGGGCAGAGCTTAACAGGCAGTGATGTAGAAGCAGATGTTGATGGAGGTAGAGTTTTGGTTAAACATTTTGTAATAAAGTGGCTAGTTATTCCGCAACCTGTCAACTTAGTAGACTGGCTTCAATGAAAACTGTTTTAGTTTTAAAACTTACAGATTGTTTAGTCCAATGGCATTCTAAATGTGAAAAGATCAAGGGATATTTGATTTCTCAGTTTATGACCCCTTTAAGGACTGAATTGCTGAACGAAAAGGTTTAGCAGGATTGAATGTTTTTGGGTGAACCATTCGTTTGATGGAAGGAATGTCTACTTGTTCGGTCTTGATATATAATATCTTCTATCCTGTGTTGTAGCGTGTCATATCCTGGAGTGCTCTGAAGGCT[T/A]GGCTCAGGAGGTCATCAGCACCATAGGTCAGGCTTTCGAGCTCCGCTTTAAACAATACCTAAAAAACCCACCCAAAGTGGTCACCCCCCATGACCGGTAAGAGTCATTTTTGGACAAAAGTGCAAATGTTTACATTAATGTCAGTGTGTTTAGATGAGTGTGTGCACATTGATTAATGACGGTACCTCCCTAGGGTCTTCGGAAACCCCCTTAATATCCTGTATGTGTACGTGTGTGCATACACACCATTTCAAGCTTGTTGAACAGAAGCATTGTTTCTGAACGTCATTCAAGAGTCTTGAATACACAAGCTTGAAAAACTTGTCAGTGTTGATATGATAATTCATTCATTCATTTATTTTCTTTTCGGCTTAGTCCCTTTATTAATGTGGGGTCGCCACAGCACTACCTACTGCGCCACTGCATTGCCAGCATCTCATTCAAAATAATTTTTCAATTTTTTTCTAACTAAAGCTTGACATTACTGTAGTACTAACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36113
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000098400 | Essential Splice Site | 366 | 554 | 12 | 15 |
ENSDART00000147609 | None | None | 449 | None | 13 |
The following transcripts of ENSDARG00000075437 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 24969973)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 22874289 |
GRCz11 | 16 | 22789679 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATGAATTAAATTGCTTTGTTCATTCATGAAACACCCACACTGAATAAA[T/C]ATGTCACCATCCCACTGCACTGTATCTCCACAGCCCTATGGACAGCCGAG
Long Flanking Sequence:
TTTTCAAAATATATTTCTTTTGTGTTCAACAGAAGAAAGAAAGAGGTTTGGGACATGTGAATAATGAGTAAAGGATGACATAATTTTGTCTTGGTTGAACTATCCCTTTAAGACCCAGAGGATAGAACATACATACATTCAACAGTTTATAAATGTAATCTTGTTGTATTACTGTCTTAATACATTAAACATTATCAAAATAATAGATTTAGGAAATTAAATTTAGCATATTACAGCCATATATTCAAGGTGTACCGAGTTTAATTAAATCAAATATTAGTAAAAATATGTTCATTTGTTGTTTGAACATACTGAAATCAGTGTTGATGGCTCTTAAAAGTCTAAAAATGCCCCAAATTATTCCCAAACTAGAAACTAAAACTCAACTTACTTAAACTTTGGCTTCCAAAGAGAGACTTCAGGGTACAAGAAGCATGATTCAGTGTATAAAAATGAATTAAATTGCTTTGTTCATTCATGAAACACCCACACTGAATAAA[T/C]ATGTCACCATCCCACTGCACTGTATCTCCACAGCCCTATGGACAGCCGAGCCAGAACGACATTCACAAGCAGCCTCTTCCTCCACTACCAGGTCAGATTTACACACAACAATAATCCCTGTCCTAGTCATTTCATGCTGCCACACAGTATTTGTCTGTCATATAGTCACACTTCTCCTGCTTTAATTCCCCTGTCGGCCGAGACTGTCATTGTGCAGAGTGAGTCAGCGCTTTTTCTGCTACTGTTCGTTGCTCTTTGTTGGACGCTGCCCAAATCTATTACACAGCTCCTTTGAGAGGTGCCTTCTGGATCAGCGGCATTGCTGACAATAGAACGGCACCGCTTAAGTGCACTCACCTGAAGGTTAACTCACTTTAACTTCACCTTTGTTTTTCTTTTGTGTTCTTTTTTTCTTTAGTGGGTGTTAAGGATGGAGGCTTGTTTGACGACCCCTCATACGTTAATGTGGATAAACCCCGCCTCCCAGCATCAGCAGCAGC
Associated Phenotype:
Not determined