Busch Lab

ZMP

ENSDARG00000088061

Ensembl ID:
ENSDARG00000088061
Human Orthologue:
STXBP4
Human Description:
syntaxin binding protein 4 [Source:HGNC Symbol;Acc:19694]
Mouse Orthologue:
Stxbp4
Mouse Description:
syntaxin binding protein 4 Gene [Source:MGI Symbol;Acc:MGI:1342296]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33246 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38403 Nonsense Mutation detected in F1 DNA Not yet available
sa25256 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33246
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123009 Essential Splice Site 455 709 14 22
Genomic Location (Zv9):
Chromosome 3 (position 36618852)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36430252
GRCz11 3 36572110
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACCAGGAAGCAGCTAGTTTGATGGACACCTCTGCCTTTCATTCCCCAG[T/G]AAGTACAACTGTACAATTTCGCATTGCTGTGCTTGACTGTGACACAGACT
Long Flanking Sequence:
GTTTTGAGATATACAGAAATACAAAAAATACAAAGTATTATCTATTTAATGAGTGTGAATCATGACTTTCTGATTAATATTGACAAGATTAATGCACCAAAAAAAGTTTAAAAACACGAGTGCGCAGTGCAAACTTCATTGCTCAGTCTAGATTATAATAAAATCAAATGAATTGTTACCATTTTAATGTTTTACTGTATTTTAAACCTTAGTGTGTTTATTAAAACATTTTTAAAACTCTTAGTGTTTCCAATTAATCGAAATTCCAAATTTTTGACTGATAATGTGAGGATTTTGATGTTTTCTTCTATGCAGTTTGTTCTAATACTATTCTTTACTATGGCTGATTTTGCCTTTGTTTCTGTGTTTAGACTTTGTGGAGGCCACACGCAGTGTCTATCAGGAGAAGCTGGAGGAGGTGGGCTTGGGACAGGGACCGTTTATGTTCTCCTACCAGGAAGCAGCTAGTTTGATGGACACCTCTGCCTTTCATTCCCCAG[T/G]AAGTACAACTGTACAATTTCGCATTGCTGTGCTTGACTGTGACACAGACTAAAACTATCCTCACAGCACCTCCTCACATTATTGAGACTTCACTTTTTCCTGGAGTTGAGCGCGTCTGAAGATTTACCCAGCGTTCTTAAAGGAGCTTTTCTGCTGCTCAGGAAAGTTATCAAAGCTGTCCTTTAAGCTCTTAAACACTTCAATTGTCAGAGTTTGGATTTGTCTCATACTAATATGTAACCACTCAACTGCCTCTGGTCTTAAAGTGCCCCATAATGTGATTTATCTATAAACATTACCTTTCAATCAGTGCATAATGAAGTTGTTTGTCAATGTAAAAGGTCTGCAAAGTGTTAAAGATCATATGCATAGGGATAAGTGAAGTTATTGTCTTTTAAAAAAGAGTTGATTCTACTGTTTATATTACTAAATGCTAAAAAGCTTGCATACACTAAAATCTGTTACTTGTGCATACATATCTATGAAACTCTTTCACACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38403
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123009 Nonsense 533 709 17 22
Genomic Location (Zv9):
Chromosome 3 (position 36615969)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36433135
GRCz11 3 36574993
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAATAAGTGTCTGAAGAGTAAACTGCAGGTGGCAGAAGCTGTGCAGAGA[C/T]AGACCAACAGTGCAGAGCAGGACTATGAGGAGGTCATTCAGCTCCTGGAG
Long Flanking Sequence:
AGACGTTTTGATGAATAAATCATAAAACATATTTAAAGTATAGATATTTTGTATTCTGTATATCCCAGATCTTAAACTGCCATTTTTTTGAGTTTTTAAACAATTTTGCAAGCAAACTAACGTCAAGATTTATCGCATTTTTCTCAGGTGATGCTGAAAGACACAGAGGACAGTAAGAAGACTCTGGAGGATGAACTGCAGAAGACAGCAGAGGTGAAGCCTAAAAAAAAGTTCAACTTGACTAATCTTAAATGTTTCAATATATGCAGTTCAACTATTAAGAGGCATGCAATCTGTTTTAATAAATGGATGACTTTTTTTGCCTTGTCATATTTGAGTATGCCAAATATATGTAATCCCAGCGTTTGAACATATGTGATCATTTAAGATGTTTGGTTGCCTTGTTTGTGTGTGTATGTGTGAAACAGAAGGCCACAGCAACGCTGGAGGAGAATAAGTGTCTGAAGAGTAAACTGCAGGTGGCAGAAGCTGTGCAGAGA[C/T]AGACCAACAGTGCAGAGCAGGACTATGAGGAGGTCATTCAGCTCCTGGAGGCCGAAATCAAAGATCTGAAAAACCAGCTCGCCGGCAAGAACAAGAGAGGCTTGGAGGCCACTAAGGTACATTTTAGCACATTCCTCTGTTTGCTGAAAAAATATTCACATTATTATTATTCATATTATTATTTTTTGTACATTGTTTTTATTCAAATGTTTTACAATGCCACAAATTCTGATACAAACTTTTACATGTGTATACATTATTTTTACAACAGAATTTAACATCATATACTGCATATGAGGTTAAGGAAAGAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAATTCTGGGAAAATAAATAAATAAATAAATATATATATATATAATTAAATAAATAAATAAAGATTGTTAGATATTCTTGCCTTAATTGCTGCTTTTTTGTTAAATATTCAATAAAGGTTACATAAAAATTCATCTACGTGCTAGAAGTGTTACAGTGTCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25256
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
ENSDART00000123009 Nonsense 687 709 21 22
Genomic Location (Zv9):
Chromosome 3 (position 36611785)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36437319
GRCz11 3 36579177
KASP Assay ID:
554-7648.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATTACCGCAGTACGTAGAGGGATCTGTTGTGAAGGCCGAAGAGGACTG[T/A]GATTCAGAGTGAGTGGCTTTTTTGTTGTTGTGTTATGAAGCTATCAGCAT
Long Flanking Sequence:
GGTGATATATGCCAGTGTTTCTCAACCATGCACCAACACTGCATGTTTTGGATGTCACCTTTGTCTGTTACATCTATTACAGGTCTTTCAGTCTCTGCTAATGCGCTAATGATCAAAATCAGGTGAGGTTTGATTAATGAGACAAGGAATATGTGCAGAGCTGGTGGTCTTCCAGGAACGTGGTTGAGAAACACTGATATTTGCTTTTTGGAATACACTGTGTTTTTAAGGTTTTTTTTCTTCTGTTTTTAAACTAAAACGGGGTTTGCAGGGCTTTTTTAGTTTAAAACTTCAGATAAGTGTGGATACCAGGCATTATTGTAGCAAATGTTGTGCATTTTAAAACAATAATGTTTAAGGTTAAAGAACTCTGTTTGGAGTGTGAATTATATCATTTGGGAAATTTTGTAGACTTCTTGTTTTAATGAACTCATGGTTGGTTATTTTACAGCATTACCGCAGTACGTAGAGGGATCTGTTGTGAAGGCCGAAGAGGACTG[T/A]GATTCAGAGTGAGTGGCTTTTTTGTTGTTGTGTTATGAAGCTATCAGCATTTCCCCCCTTGCACTGCTGCTGTCAGCTGAGTTTAGCTCAGGCCAAATGTTCATTTCTCTGTCACAAAACCCTTCACCAGAACTGCTGGCCTTGCAGAGGCTCTCACTTATCCAGTCTGACAAGGACACCAAAGCAGGCGTAACGTGGATAATTTTTTTAGACTTTAGTGTTTTAAATGGCATTAATCATCCATCACTGAGAAAGGAGAATAATTATTGCAGATGTGAAAAATAGTTTTTGAATTGAAACCAAAGATCACATAACTTCTAAGAATGTTTTCACTGTGAGATTTTCTTTCAGGTCTTTATTCATGTAAAGTCACATTGATTCTGCTAATGAAGAGATTGTTCTTTTCTACAAGTTTGACATTCATTAATTGTCATCCTTTCTATATATTAAATTATATAGTAAATTATAACTGGTTTCTGTTTTATCTTTATATCAGGGAT
Associated Phenotype:
Not determined