Busch Lab

ZMP

STXBP4

Ensembl ID:
ENSDARG00000076997
Description:
syntaxin binding protein 4 [Source:HGNC Symbol;Acc:19694]
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 7 alleles of this gene:

Allele Name Consequence Status Availability
sa22141 Nonsense Available for shipment Available now
sa10393 Essential Splice Site Available for shipment Available now
sa12087 Essential Splice Site Available for shipment Available now
sa10129 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa22141
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111615 Nonsense 56 749 3 22
Genomic Location (Zv9):
Chromosome 12 (position 33768973)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 31966970
GRCz11 12 32081872
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACATTGTTCTCAATTTGATAGGCGTGAAGATTATTGGGGGCTACAGGGGA[C/T]AGAGCGGTGAAGAGTTCGGCATTTTCATTAAACGCATTTTGCCAGGTGGC
Long Flanking Sequence:
ATTTATATATATATATATATATTTGTTCTGCAGCATTTACCATTATCTTCTGTTGTAATAAATCTCTCATTATGCAGCCATTTTGGAGGAAAAAAAAGATGAGGAATGATTATATTCTTTCCTCTGGGATTTAATAATTCTTGCATCAGAGGGTCAACCGCATTATTACTATCCATTCGATAATCTGTGTTTTTAAAAAACAGTCTGGAACATTCATCTGAAAATCTTCCCTTTAGGATAGTATGTCTTGTACCGATTTGTAAAAGAATTTCTCTTTTTTTTTTCAGGACAATAATGGGACCTCATGGCATCAATCGTGCTGTGGAAAGACTAGAGTTTACAGACTGTAAAAAAGGACTTGGTGAGTTTATTATAATATTTTTTTGAATATCCATTGCTTTGAGGTATTTCGGTGTACAGTTTGTCCTGTCACTCCCATTAATCCAAAAAACATTGTTCTCAATTTGATAGGCGTGAAGATTATTGGGGGCTACAGGGGA[C/T]AGAGCGGTGAAGAGTTCGGCATTTTCATTAAACGCATTTTGCCAGGTGGCGTCGCGGCACAGGACGGTATGTTCTTTCTCCCAAAATCTCGCTGGAATACGTCTATTTAGATTCTGGGGATGATGGATGGTGTCCCTTTCTGTCTTTCAGGGCGTCTCAGACCAGGGGACCTCATTTTAGATGTCAACAACATGAATTTACGGGGTGTTACGAATGAAAAGTAATTTATTTTGGATTGTTTACTGTATGAGCATGTAATAAATGACAAGATGCTTGGAGTATATTAAAATAACTGAACTGAATTGAGAATTACAGTTTAAGTGAGAATTATTATCCCTCCTAAATTTTTAGCTCCACTGTTAATTTTTCCTCTATTTCTGTCTAATGTAAAGATTTTTTTCAACACATTTCTTTTAAACATAACAGTTTAAATAACTAATTTCTCATAAATGATTTCTTTAATCTTTCCCATAATGACAGTACATAATATTTTACTAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10393
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
ENSDART00000111615 Essential Splice Site 276 749 9 22
Genomic Location (Zv9):
Chromosome 12 (position 33777267)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 31975264
GRCz11 12 32090166
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGTAACACATGAAGAAGCCAAAAGCATACTTACTCGAACCAAACTCAGG[T/C]TARGATATTTTCATATGAACACAACCTTWCCATAATGACAACGTAATTCA
Long Flanking Sequence:
TATTATTATTATTGTTATCTATTGTTGTTGTTGTTGTTACTATTAATATTTATTTATGCATTTTTTACTATTATTATTACTATTATTATTTTTATTATTTATAGTATTGTTGTTATTATTTTTTTACTATTATTATTAATATAATAATAAGAATTGTTTGACCACCAATTAGAATAATTTTTGGAAGGATCATACAGCAGTGAAGAATAATAGGATTAGTCATCACAGCAATGCATAAATTAATTAAATAAAATATGTTATTAACATTTATTAGTAAAGACCTTATAAAATTTTGTCAAAAACAAAACTTTTGAACATCAATTTAAAATTAAGAAGACTAAACTGAATTACAATAAAGTAAAAATAAAATGTTTTTCCCTGTGTGACTCTAGGACGGGAGGCTAAAGTCCGGGGACCAGCTTATATCCATCAACAAGGAGTCACTTGTTGGAGTAACACATGAAGAAGCCAAAAGCATACTTACTCGAACCAAACTCAGG[T/C]TAGGATATTTTCATATGAACACAACCTTTCCATAATGACAACGTAATTCAAATATGCTTGATATATTAGGACAGTTTGTTTCCATCCAAAACAAATGCATCTGAATGATGGGTCTACAGTAATGTTTACAAGAATATCTGTAAATGTGACTTGACCCCACAGACCAGACCCTACAGTAGAAATCGCATTTATCAGACGAAGATCTTCGTCAGGCTCCAGCAGTGGACCACACAGCCCTATCTCCCTTCAACCCTCCTGCAGTACAAATCATCCAGCTCCCCAAACCAAGCCCTCTGGACTGAGTGGAGCAGCTTTACCTGGAGGCCTCGTTCCCAAAATAGCCAACACTCCCAATTCTGGAAGTGAGACGTTGCCTTCTGTTGAACTTACTAAGGTAAGTTCTCAGTTTGTGCATTCTCGCTTTCTACCCTCAGGATTAAGGGAAAGACACAAGGAAAAGATGCGAGGACAGAGGAATTGAGTAGTGAAATTATTAGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12087
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111615 Essential Splice Site 509 749 15 22
ENSDART00000111615 Essential Splice Site 509 749 15 22
Genomic Location (Zv9):
Chromosome 12 (position 33790088)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 31988085
GRCz11 12 32102987
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTRAGGAAAGAGCACATCGAGGCCTTGAGGGAGCYCAAGGGACTGCAGG[T/C]ACCATTATCACACCCCTTTTAAACACMCTGTCACATGCTGGAATGTGTGA
Long Flanking Sequence:
TTCGCGAAAAACAAAAACTGCAAAAAAAAAAAAAAAAAAAACGTAGCTCCTGGGAGGTATTTGGTACTCTCCAGAAATGTATATAGCGGTACGCTTTCAGAATGAGCCTGGGTGTTTTAGCATATATTATATTCTATTTATAACATGTGATTGTACAATATAAAACAACATTAAATTACATAAATTGTATAGAAAACAGCTATTTTCAAATAAAACTATATTTCTCAATACTGCTCTTTTTAGCATTTTTTGATTTATATAAATGCAACATTTTTGAGCAGAAAACACTTCTCTCATAGACTTTAATTATTTATTTTATTACTGATTATATAAAACATATAATGTTTTATTTGTAAATATTTAATGCAGTGTTCTTTATTTAATTTTGTATTATTTTGTCTTATTTAAGCCATCATTATCAGACTCTGATGATCTGGATGAGATGGAGAGGCTAAGGAAAGAGCACATCGAGGCCTTGAGGGAGCTCAAGGGACTGCAGG[T/C]ACCATTATCACACCCCTTTTAAACACCCTGTCACATGCTGGAATGTGTGACATTCATTCATGTGTTATTGAGCGAGGCTCTCATTAATCCTATTTGTGCGAATGAGTGAGCTAACGCTAATGCTGACTCATGCGAAGATCTCTTTTCTGACAGGATAAGCTGGCAGAATCCGAGAGCCTTAATCATAAGATGCTGCAGGAACTGACAAAAGTTAAACAGGTACGCAACTCGCTCTTAGCAGCCCATTTTAACTTGTGTGTGCAGCACAGTTTAGCATAACAAGTAGAGTTGCTGGTAGAATTTCAATGCATTTATCAACATAGTTGTTCAACTGTAATATGAGCAATTCCAAGCAAATGTCAAGTACTTAAAAATGTCTCTGTTAATGTTTTCAAACAATTATATTTGATTTAGCAAAGTCACACAAGTGCCAATTTCACATCTGTCACATCAATAACGAAGCTTTTTTCTCAATAAATACAAAAATATAAAGTAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10129
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111615 Essential Splice Site 509 749 15 22
ENSDART00000111615 Essential Splice Site 509 749 15 22
Genomic Location (Zv9):
Chromosome 12 (position 33790088)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 31988085
GRCz11 12 32102987
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTRAGGAAAGAGCACATCGAGGCCTTGAGGGAGCYCAAGGGACTGCAGG[T/C]ACCATTATCACACCCCTTTTAAACACMCTGTCACATGCTGGAATGTGTGA
Long Flanking Sequence:
TTCGCGAAAAACAAAAACTGCAAAAAAAAAAAAAAAAAAAACGTAGCTCCTGGGAGGTATTTGGTACTCTCCAGAAATGTATATAGCGGTACGCTTTCAGAATGAGCCTGGGTGTTTTAGCATATATTATATTCTATTTATAACATGTGATTGTACAATATAAAACAACATTAAATTACATAAATTGTATAGAAAACAGCTATTTTCAAATAAAACTATATTTCTCAATACTGCTCTTTTTAGCATTTTTTGATTTATATAAATGCAACATTTTTGAGCAGAAAACACTTCTCTCATAGACTTTAATTATTTATTTTATTACTGATTATATAAAACATATAATGTTTTATTTGTAAATATTTAATGCAGTGTTCTTTATTTAATTTTGTATTATTTTGTCTTATTTAAGCCATCATTATCAGACTCTGATGATCTGGATGAGATGGAGAGGCTAAGGAAAGAGCACATCGAGGCCTTGAGGGAGCTCAAGGGACTGCAGG[T/C]ACCATTATCACACCCCTTTTAAACACCCTGTCACATGCTGGAATGTGTGACATTCATTCATGTGTTATTGAGCGAGGCTCTCATTAATCCTATTTGTGCGAATGAGTGAGCTAACGCTAATGCTGACTCATGCGAAGATCTCTTTTCTGACAGGATAAGCTGGCAGAATCCGAGAGCCTTAATCATAAGATGCTGCAGGAACTGACAAAAGTTAAACAGGTACGCAACTCGCTCTTAGCAGCCCATTTTAACTTGTGTGTGCAGCACAGTTTAGCATAACAAGTAGAGTTGCTGGTAGAATTTCAATGCATTTATCAACATAGTTGTTCAACTGTAATATGAGCAATTCCAAGCAAATGTCAAGTACTTAAAAATGTCTCTGTTAATGTTTTCAAACAATTATATTTGATTTAGCAAAGTCACACAAGTGCCAATTTCACATCTGTCACATCAATAACGAAGCTTTTTTCTCAATAAATACAAAAATATAAAGTAAAAAA
Associated Phenotype:
Not determined