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
sa9265 Nonsense Mutation detected in F1 DNA Not yet available
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:
sa9265
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
ENSDART00000031308 Nonsense 262 565 10 13
Genomic Location (Zv9):
Chromosome 21 (position 42363276)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 42780164
GRCz11 21 42775455
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTTTAGCAGTTTCTTGGRTGGAACRTTGTCRCCTTNACCCCCACAGGTAC[C/T]AAGGGAAAGAGGGCTGGGCCCCGGCATCTTACTTGAAGAAGGCTGACATT
Long Flanking Sequence:
CTTGGGTATAATTAAATTTGTTAAACTGAATTAAGTCTTACAGTTTTACTTTATTTAATGAAGTAATAAAAAATATTCCAAAGCATTTTGGATTTTGGTTTTCAGCTAAGTGCATCCAGACATTTCCAAGGTTTAGACCAGAGTTTTCATTTTGATACATCCCTAATTATTAGTGTTATATTCGTGCAAAGCAGAGAAAGCTCAAGTGGTAAATAGGCTGTAGTGGTTGGATGTTGTTCATGAATGGCACCTTTAAGTTAAATAATTAAAATAACCCTTTCTTATTCTCAGAGGAAAAGTACACTGCAATCTATCCATACTCTGCACGTGATCAAGATGAAATCGATTTGGAGAGAGGCATGACTGTTGAGGTCATTCAGAAAAACTTGGAGGGCTGGTGGAAGATCAGGTAAAGGGGAATGAGTGAATGCGACTGTTTTCAGAAAAAAATCTTTAGCAGTTTCTTGGGTGGAACGTTGTCACCTTACCCCCACAGGTAC[C/T]AAGGGAAAGAGGGCTGGGCCCCGGCATCTTACTTGAAGAAGGCTGACATTCTCAGCCAGAAGATGGCAGCAGGTGCTCCAGTTCATGCCAGCACTAATGACCTAGACGTGGCTTGCAAACAACAGAACGCTAACAAGGAAAACAAGGAGAATCAACGTGACCGATTTTCACCGTTTTCAGACAGCAAGCGCAGTAAGCAACTTTTTGTTTCTAATGCCTAAATGTGTCAAGTGTTTAGGGTGCAGAAATACAACTTCCCCATATGCTCTAAATATAATGTAGCCAGCAAGTCATTACTGCATAATAATCCCCTTAAGGGAGATCAAGCAACCAAAGCAAAGCCAAGGTAAAATTATTTTGTGTCCCTTGTTGACTCTTTCAAAAAGAACAGGCCAAATCGTGTCTCAATTTACATGATTGGATTGCATCAGGAAGGGTATTTGGCATAAAACAATGCAAATAAATAGATGGATAATCCACTGTTATGACTTCTAATGGGA
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