Busch Lab

ZMP

srebf1

Ensembl ID:
ENSDARG00000067607
ZFIN ID:
ZDB-GENE-090812-3
Description:
sterol regulatory element-binding protein 1 [Source:RefSeq peptide;Acc:NP_001098599]
Human Orthologue:
SREBF1
Human Description:
sterol regulatory element binding transcription factor 1 [Source:HGNC Symbol;Acc:11289]
Mouse Orthologue:
Srebf1
Mouse Description:
sterol regulatory element binding transcription factor 1 Gene [Source:MGI Symbol;Acc:MGI:107606]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33346 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa18770 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33346
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
ENSDART00000092665 Essential Splice Site 277 1104 5 25
Genomic Location (Zv9):
Chromosome 3 (position 62735165)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 61837319
GRCz11 3 62073959
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTACAACACTCACGTCTACAGCGCCGGTCCAGAACACCCCACTGCAGG[T/C]TCCCCCGCACACACATTCACACTAAGAATAACAGGAGGGCAAAAAACATT
Long Flanking Sequence:
GTCTGCTTTTGAAATATCTGTTAATATTCACCCCCTAGTGGCCGTCATAGGGAATTTATTAACAACATTATTTATTTTTTATTTAATTAAATATATCCTTAACTTGTTTGTCATTATATATTCAGATATAGTTAGTGTTTAGTGTTGAATTTATGATATTTATACATATTTATACATATGTATAATATACTGAATAACAATAATGGTCACACTTTACAATAAGGCTTCATTATGTATTCACTAATGTAGTAATAATGAGCAATATTTATACATGTTTTAATATATTTTCTGAGCATTGTGTGTGTTTGTAAAGCAGCTTTACGTGCCGGTGAGATCATATCATGTGTTTTTGCAGGTTTTGTTGCAGCCGCAGTTCATTAAGGCCGACTCTCTATTGCTCACAACTCTGAAACCGGACGTGACAATGGTAACGACAGTAGCATCGCCCTGCATTACAACACTCACGTCTACAGCGCCGGTCCAGAACACCCCACTGCAGG[T/C]TCCCCCGCACACACATTCACACTAAGAATAACAGGAGGGCAAAAAACATTGACTGCCATGTAGAATGCGAATTTAAATAAAGAAATGTATTGTTATTTTTACACTTTGCATTGCGGTTTTACATATTACACTTTAAATTGCATGTGTATTATGTAAAAACCGCAATGTAAAGGGTAAAAATAGCAGGTCCATCTCAGTTTATTTGGTAAGTGTGACCTGCTGATTCCAATATTTACTGATTCCAATTTTTTTCTAAAAGAAGAGAAAAAAGAGGAATCTGAATCGTCAAATATCGGTATCGGCAGGTCACACTTACCAAAAACACTGAAATCAGAATCAGTAAATATCGGTATCGGCAGGTCACACCAAAAAAAAAGGAATCAGTAAATATCAGTAATGGCAGGTCTTGCTTACCAAAAAAACTGAAATCGAAATTGTCAAATATCGGTATCGGCAGGTCACACACACACACAAAAATGAAATCGAAGCTGTCAAATATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18770
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
ENSDART00000092665 Nonsense 853 1104 16 25
Genomic Location (Zv9):
Chromosome 3 (position 62725893)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 61828243
GRCz11 3 62064883
KASP Assay ID:
2259-4263.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACCCGCACTCTAAGTGGTGGTCTTCAATGGTGGTGGTGGTCATTAATTG[G/A]CTGCAGGGAGAGGACGCGGCGGCCGAGAGGCTGTACCCTGCGGTGGAGCA
Long Flanking Sequence:
GTGGAGTTTGTAACCAAATTTGAGTCATGTTTAGTTGCTAAATGTAATAGAAGTTCATTTTGATGCGACTTTATTTTGCATTCGCTGCCCGTAACGCTTTTAAATCTGCCTCATCTGTGTTTATTTGAATATAAGTGTATTCATTTGAGTGTGTGTGTGTGTGTGTGTTGACAGCGAGTTCTCCGACGCTCTTGAATACCTGCAGTTGCTGACCAGCGCTGCTGATGCAGCCGGAGCCACGACACAATCCTTCGCCATCGGCTCCAACATGGCCACCGTCACAGGTCAGCTTCACACACTGCTCTATAATATCCACACATCAGAGAGTAACAGCACTGCTGGCTGAAGGGAAGACATGGGGACGGGGTAAAAAGCAGCAACTGGGCCTAAAGTTTCACTGAAGCAGAAGTGTGTGTGTGTGTGTGTGTGTGTTCTTGACCTCCAGGCTGTGACCCGCACTCTAAGTGGTGGTCTTCAATGGTGGTGGTGGTCATTAATTG[G/A]CTGCAGGGAGAGGACGCGGCGGCCGAGAGGCTGTACCCTGCGGTGGAGCATTTACCACGCAGCCTGCAGTCCGCCGAGTGAGACGCTTCCCCACACTCTGTCTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTTTATCTGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTGATGTGTGTGTGTTTCTGTTGTATGTGTGTGTGTGTGTGTGTGTTTCTGTTGTATGTGTGTGTGTGTTTCTGATGTGTGTGTGTGTGTGTGTGTTTGTTTCTGATGTGTGTGTGTGTTTCTGTTGTGTGTGTGTGTGTGTGTTTCTGATGTGTGTGTGTGTGTGTGTGTGTTTGTTTCTGATGTGTGTGTGTGTTTCTGTTGTGTGTGTGTGTGTGTTTCTGATGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTGTTGTGTGTGTGTGTGTGCGTGTGTATGTGTTTCTGTTTGTGTGTGTGTTTCTGATGTGTGTGTGTGTGT
Associated Phenotype:
Not determined