ZMP

sptlc1

Ensembl ID:

ENSDARG00000042995

ZFIN ID:

ZDB-GENE-050522-61

Description:

serine palmitoyltransferase 1 [Source:RefSeq peptide;Acc:NP_001018307]

Human Orthologue:

SPTLC1

Human Description:

serine palmitoyltransferase, long chain base subunit 1 [Source:HGNC Symbol;Acc:11277]

Mouse Orthologue:

Sptlc1

Mouse Description:

serine palmitoyltransferase, long chain base subunit 1 Gene [Source:MGI Symbol;Acc:MGI:1099431]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa34823	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa12144	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa34823

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
ENSDART00000063120	Essential Splice Site	117	472	4	15
ENSDART00000133927	Essential Splice Site	129	484	4	15

Genomic Location (Zv9):

Chromosome 10 (position 5243509)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	5239803
GRCz11	10	5240107

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTTTGCCTCGTTTAACTTCTTGGGTCTGCTTGACAATGAGCGCGTGAAGG[T/C]TTGTAGCCGCTTTAAGGGCTTTTCCATTCCTCACATTTACATCCATCACT

Long Flanking Sequence:

AATCATGTTTTATCAAGTTATGATGGTAAGGAATTACTGTTTTATACAATAACGTTTTCTATGATCTAAACAAACCCGGAATGTGACGACTATACACATCTATTGAATGCATTATAAGAAATAATCAATGTCTTTCAATACTTACATTTATTATAATAACACCAAATCTGTGTGTTTCAGGAGAAAGAGGAGTTAATTGAAGAGTGGCAACCCGAACCGCTGGTCTCCCCCGTATCTAAAGACCACCCTTCCCTCAATTATGATGTGGTCACAGGGTACGTCTGCTACACATTTACTGTATACAGATTTCTGCATAAACCTCTTATTTAGAGTCAACATGTCTCAAGCGGAATAACAACGGCTGTGTAAATGATCCTGACTGAAGGCCGTGTGTTTCTTTTACAGGCCTCCAAGCCACAAAATCATTGTAAATGGCAAAGAGTGCATTAACTTTGCCTCGTTTAACTTCTTGGGTCTGCTTGACAATGAGCGCGTGAAGG[T/C]TTGTAGCCGCTTTAAGGGCTTTTCCATTCCTCACATTTACATCCATCACTGCGGCCGCTGATTATAACGTGCCGCTTGCTCATTTATGATGATTACAGCTTGATGAATGAAAACATCACTGCTGCTGGATTTGATTTGGAAGGCATGACTTAAATGGCACTTAAACATAGCTTTAGTGCACTGAAAGAATGACGTTTGCTGCTTGTTCAAGCTACTTATTTAAACTGAGCTGAAACAACACAATTCTGGAGGTTTTTTGGGCGACAATTGAATTGTTTTAAGTTTAATCTACTTAAATTTGTAAAAACTATTAAGTTAACTTAATTCCTTTATGCTGTCCCAACACAAATCGGCAGCATTTTTACTGACTTCTAAAGGACTTTGAAAGAAGTCTCTTGTTATACGAAGGAAAAATTTAGTTAAATTCAGCAAGATGAAACTGTAACAATTTAAAGATGTTTCAAAGAAGTCTGCAGTGCTCATCAAAGCTAGAGTTATTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa12144

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000063120	Nonsense	451	472	15	15
ENSDART00000133927	Nonsense	463	484	15	15

Genomic Location (Zv9):

Chromosome 10 (position 5267840)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	5264134
GRCz11	10	5264438

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AAATGTTGAATATTTTGTCCNTCAGCATTCGAGTAGTTGTGACCGTCGAA[C/T]AAACGCARGAGGAAATCGARAAGGCAGCACAGTGYATTCGAGAAGCAGCT

Long Flanking Sequence:

CGACCCCTGGTCTATAGGTAGTGCAATCTACACAACAGTAATTGCAGTGTGTGGGTGAGGGGGCAGTGTATCATGTTGTGGTTCTGTAACGGCTGGTGTTGGTTGCTGCATGGTTAAAAAAAAAGTATGACTGTTTGAGTAACTAGGTGAATTTCGACAAATAGATTATTTTAAATAAATTAAAAATAAATAATCTAATATTAATCTAATATTTTGGGCTTTTTTGTGCGTTTGGGCGGGTTTTAAATCACTTTTGGGCTGGAAAAAGTCAGCTATATCTGGCAACACTGATACTAAAACAAATGAATCTCTCCTACAGAGTTTGGACAGACAGGTCGCACTAACGTTGGCTCGCTACCTGGACAAAGAAGAGCGCTTTCTTCCACCGCCAAGGTGATCAGCTGGAAGTCATTTGCTAAAATTGATGAAAACCGTCTTGACCTGTTATTGAAATGTTGAATATTTTGTCCTTCAGCATTCGAGTAGTTGTGACCGTCGAA[C/T]AAACGCAGGAGGAAATCGAGAAGGCAGCACAGTGTATTCGAGAAGCAGCTTTACATGTTCTGAAATGAAGACCAGTCGCTTCAACATCCATCACACACGCACACCGTAAAGCTTTAAAAGTGTCATCACTGACCGGAGGAAGGAAAGCGAGAGCCTGGCAGGTTCTGTGACCTTTGACCTCAGAGAAATACACTCGGATTGTTTGTATATTTATGTTTGGTGTACAGAAAATGTGGATTATTTTAGTAGTCTTCATTTCACATTGAAATAAATGCAATTGACTCCCGACACTCTCATGTGCAGCATCAAACCCGTTTATGTTCTGTTCAAAGCCTTGAAAAACCTTGAAATCTTTACTAATCAATGGTAATTATAGCTTTTATATACACAAGTATCTTTTTATGTACACTAGTATTTACATTCTTTTGTAACCTTTGACCAAAGAGATGCTTCTTTACCACATTTCAGAATATTTATGCCTTGAATGTGATTTTTTTTTT

Associated Phenotype:

Not determined