Busch Lab

ZMP

sh3pxd2b

Ensembl ID:
ENSDARG00000021377
ZFIN ID:
ZDB-GENE-060810-52
Description:
Im:7155315 protein [Source:UniProtKB/TrEMBL;Acc:Q6DC19]
Human Orthologue:
SH3PXD2B
Human Description:
SH3 and PX domains 2B [Source:HGNC Symbol;Acc:29242]
Mouse Orthologue:
Sh3pxd2b
Mouse Description:
SH3 and PX domains 2B Gene [Source:MGI Symbol;Acc:MGI:2442062]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa24036 Essential Splice Site Available for shipment Available now
sa37381 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa24036
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
ENSDART00000031308 Essential Splice Site 221 565 8 13
Genomic Location (Zv9):
Chromosome 21 (position 42369967)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42773473
GRCz11 21 42768764
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAAGCTCAAGATGATCCGGATGATTTCTCACTTCCAGCAGAAGAAGG[T/C]AAAGCCTCCTGAATAAAGCACCTGCAGCTAATATAGTATAATATTGGGGA
Long Flanking Sequence:
TGACCTGACATGGAAAACATAGGTGAACAAGTACTACAGTGTTATTTTTGTTTTGTTTTTTGCCACACAAAGAAGTTTTTAGAGCTTCGTATGATTACAGTTGAACCACTGAAGTGAGAATGTTTTCAAACATCTCTGGACCATTGCTGTCTATGGAGGATGAGAGAGCTCCTGGATTTCTTCTAAAATATAATATTCTTCTAAAACTTCACTCGTGTTTAGAAGGTAAACAAAGATCTCAGGAGGTTGAAAACACACAAGGCTGAGCAATTAATGACAGAATGTTCATTTTTTTGTGTGAACTAACCCTTTAAATGAACAGCTTATTTTGACATGAATGTTTTGCCATTAGTTACTCATGAAGTATTTCCATCTGTAAACGATTTTTGCCCCCCAGGCTGGTGGTTCGTTAGCACAGAGGATGCTCAAGGTTGGGTTCCAGCCACGTGCCTGGAAGCTCAAGATGATCCGGATGATTTCTCACTTCCAGCAGAAGAAGG[T/C]AAAGCCTCCTGAATAAAGCACCTGCAGCTAATATAGTATAATATTGGGGACCTCTTGTTGAATCTGATTTGGCATCTGTTAAAGGTGAAGTGTCAATTTTTTTTTAATGGTCTTTTCTATTTTAATATGCAGAGACTCTAATGCTGGGTTCACAGCAAATGTGAAGGGAACATGTGCATCATGTCAGTCTCTCTAGTTTACTCATTTTATATGTATATAAATACATATCTATATATCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACCTATATATATATACCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACTTGCACTGAAGACATGATTTAGGCTGATTTAACGCAGTTGAGCATTTCGCAACACTTAATGTGTAATCATATCCTGCAAATGCTTAAATAAGTATATATAAGCACATTTTCACACTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37381
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031308 Nonsense 337 565 11 13
Genomic Location (Zv9):
Chromosome 21 (position 42362669)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42780771
GRCz11 21 42776062
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGCTTCTTCTCTTGCAGAAGTAGGGGCACGACAGAGGCCTCCACCACGC[C/T]GAGATCTTACAATAGTAAGGGTTATAATGCTTTTACAGTTGCATGTCATA
Long Flanking Sequence:
CGTGGCTTGCAAACAACAGAACGCTAACAAGGAAAACAAGGAGAATCAACGTGACCGATTTTCACCGTTTTCAGACAGCAAGCGCAGTAAGCAACTTTTTGTTTCTAATGCCTAAATGTGTCAAGTGTTTAGGGTGCAGAAATACAACTTCCCCATATGCTCTAAATATAATGTAGCCAGCAAGTCATTACTGCATAATAATCCCCTTAAGGGAGATCAAGCAACCAAAGCAAAGCCAAGGTAAAATTATTTTGTGTCCCTTGTTGACTCTTTCAAAAAGAACAGGCCAAATCGTGTCTCAATTTACATGATTGGATTGCATCAGGAAGGGTATTTGGCATAAAACAATGCAAATAAATAGATGGATAATCCACTGTTATGACTTCTAATGGGAGCAACTGAATGTAAGAGAGAGAGACTTGCTTAATAAGATTGTTTCTGCCTAAACTATGGCTTCTTCTCTTGCAGAAGTAGGGGCACGACAGAGGCCTCCACCACGC[C/T]GAGATCTTACAATAGTAAGGGTTATAATGCTTTTACAGTTGCATGTCATATGGTATTATATCACGCTCTGAAAGGCACTTCAGAGGGAAAACTATCAAGGCCACCATATTGAGGTGTTGTTTTAAACCAATGTGCTCAAAACTGGCCACTTCAAAGGGCTCTTAGAAATAAAGAATACAACTGATGGACAGTTCGGGCCCCCTTGATCCTTTACACTGGAATGTTGTTTGGTGTCAAACAGAGCCTTCCATTCAGGGGTCAACAAACTTGTTCTTGGAGGGCCGGTGTCCTGCAGAGTTACCCTAATCAAATACACCTGAACAAGCTAACCAAAGTCTTATTAGGTATACTTGAAGGTTCCAGGCTGGTGTGTTGACACAAGTTGGAGCTATACTCTGAAGGGACACCGGCCCTCCAGGAAAGGGATTGGTGACCCCTGCTCCATAGGGTAAACCTGTAGAAGAGATTAAGGCATGGAACTTTGCAAATGAAACTTGCTG
Associated Phenotype:
Not determined