ZMP

LOC566448

Ensembl ID:

ENSDARG00000058853

Human Orthologue:

SASH1

Human Description:

SAM and SH3 domain containing 1 [Source:HGNC Symbol;Acc:19182]

Mouse Orthologue:

Sash1

Mouse Description:

SAM and SH3 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1917347]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15107	Essential Splice Site	Available for shipment	Available now
sa42866	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa15107

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
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000081797	Essential Splice Site	383	1021	10	20

Genomic Location (Zv9):

Chromosome 17 (position 6789292)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	6859096
GRCz11	17	7016326

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GACCGATGGGGAGATGAGGAGAGCACTCAACCCAGCCAACTACCATGGAG[T/C]GAGTAMTAGTACCATTATTATTAACTTTAGTACTGTTTGYTTTATTTGGT

Long Flanking Sequence:

AAACCATACAGTATGCTGGATAAGTTGGCGATTCATTTCGATGTGGCGACCCCTGATGAATAAATGGACTAGTCAAAGGAAAATGAATGAATGGGTATTATGATATCTGTGCAAGAGCTGTAATCAGACTGTTGATTTTTCAGATATGTTGAGTTTGGAGGCATCTCCGTCAGGCGAGGGTGTCTCTCTGTATTCGGGTGTTCACAAACGTGAAGCGGGGGTCCAGGAGCAGCTCTCTCTGGACAGTCTGAGCACGTCTCCCTCTTCCAGCAGTCTGGACACCAGCAGCAGCGGCCAGCGGCTCTTCAGGGCCTTTAGTAAATCCTGCAGCGCTCAGGGTCTGGAGGCGCCGGCGGGGCCCACGGGACAGGGCTCTGAGCTGGATGGCGGGAGTGGATCTTCTTTCTCTGAGGCAGACGGGGAGCTGGAGCCCAGGATGTCCCGCTCAGTGACCGATGGGGAGATGAGGAGAGCACTCAACCCAGCCAACTACCATGGAG[T/C]GAGTAATAGTACCATTATTATTAACTTTAGTACTGTTTGTTTTATTTGGTTTATTTAGCTCGGAGTGACACTGAGCTTAAAAATGACCAAAAAAAAGTTGCAAAGTTTTGTTAAGTTGAATTAAGCACTTTGTCCCAGTGCTGATGTCAAGTTCTCAAATGACAAAAACTTTAAAAATGCGATTTTATCATGATAATATTTTATTTTATTTTTTAATTTTATTTACTTTTATTTAATTATTTAATTTTAAATTTTTGTATGTTAATACAAAAATAATATAAAATTATTTTATTTTATTTTATTTTTATATATTATATCTATATTATTATTTCCCTGAGTGACACAAAAATGACAAAAAAGTCATTTTTTGTTTTGTTTTGTTTAGCTTCAAAAAAAGTGTAATTCATTTTTTATATGTTTATGTATATTTCCTATTTCTTTTTATTTATTTCTATTTATTTCTTTTTTTTTCCCATGTTACAAAATATCAAGCTCAAAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42866

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
ENSDART00000081797	Nonsense	484	1021	13	20

Genomic Location (Zv9):

Chromosome 17 (position 6801619)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	6854152
GRCz11	17	7011382

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGTCTCCTCACACAGACACAGACTCTCTGGAGAAACCCAAGCTGAAGGCT[G/T]GAGGATCAGTGGAGAGTTTGAGGAGCTCGCTCAGCGGACAGAGTTCCATG

Long Flanking Sequence:

ATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAATAAAAGGGAAATAAGGGTGAAAAATATCATTATTGTGATCTCACTAGAAAAGATTTTGACCTATCAAATGCAGCCTCTATATATACAGAGCTGGTTGATTATTAATTGTGCTGTTATTACAATGAACTTTGATAATAAAACATATTTTGTAGAATATTTGAAGTCGGTAACGCTTAAACACAGTAGAAAAAAATGTAATTCAATGTCTACCAGTGGCAACATTCTTCAAAATATCTTCTTTTATGTTTTGGAGTAAATGATGACAGAACTGTATCCCTTTACTAGAATGCAGTCTTGATTTATAGGTGTCTTGCGCCCTCTGTTGTCAGCTGTGTTGACGTGCATGTGTGTGTTTCAGTCGAGCCCCAGCAGAGCTCCCAGCAGCCCTCAGTCTCCTCACACAGACACAGACTCTCTGGAGAAACCCAAGCTGAAGGCT[G/T]GAGGATCAGTGGAGAGTTTGAGGAGCTCGCTCAGCGGACAGAGTTCCATGAGTAAGTGTGTGTGTTTGTGTTTTTATGTATGTGTGTGTGTGTGTGTGTTACTTCTATTACTTGCCAATTTACTCTGTTTAAAATGTTTTTTGATTTGTTTTGGTCAGGTGGTCAGACGGTCAGCACCACAGACTCCTCTGCCAGTAACAGAGAGAGTGTGAAGTCAGAGGATGGAGATGAAGACGAGCTGCCGTACAGAGGACCGTTCTGTGGCCGAGCGCTCGTTCACACAGACTTCACCCCGAGCCCATATGACACAGACTCACTCAAACTCAAGGTGACACGCAACATCCAGCATCAACACTGTAGACAAATTCTGTTATTCAGCCATCGTGATGAGGAAAAGCAAAGACTATAGTTTTGAGACGTGTACACAGTATGATATTGTTAATTGAAAGTGGCAGGTCTTATAATGGAAGTGATCGAAAACATTCATCAAAAGTTAAGTT

Associated Phenotype:

Not determined