ZMP

si:dkey-246i14.4

Ensembl ID:

ENSDARG00000075437

ZFIN ID:

ZDB-GENE-030131-2538

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.

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.

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