Busch Lab

ZMP

psmd13

Ensembl ID:
ENSDARG00000016239
ZFIN ID:
ZDB-GENE-040426-1004
Description:
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 [Source:RefSeq peptide;Acc:NP_957242]
Human Orthologue:
PSMD13
Human Description:
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 [Source:HGNC Symbol;Acc:9558]
Mouse Orthologue:
Psmd13
Mouse Description:
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Gene [Source:MGI Symbol;Acc:MGI:1345192]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa10990 Essential Splice Site Available for shipment Available now
sa17160 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10990
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027625 Essential Splice Site 159 402 8 14
ENSDART00000104576 Essential Splice Site 135 378 7 13
ENSDART00000027625 Essential Splice Site 159 402 8 14
ENSDART00000104576 Essential Splice Site 135 378 7 13

The following transcripts of ENSDARG00000016239 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 25 (position 10700976)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 10393027
GRCz11 25 10489833
KASP Assay ID:
2261-9423.1 (used for ordering genotyping assays)
KASP Sequence:
CATTAATCATAACCTGTTCAAATCTAACCCAYGAATAATGCCCATTCTCC[A/T]GAAATTAATAGAAGAAGTGGAAGAGATGCTGAACAATCTCCCGGGTGTGA
Long Flanking Sequence:
GTCATTGTTTTGTTATTTTTTGCCCAATCAGGTTAAAGCGAGTGATGAAGCTGTTATTCTCTGCAAAACGTCCATTGGCAGCCTCAAACTCGACATCAGCGATCTCCCGGCAACAAAGGTCAGTCATTGGCATGTTTTCATTTTTGGAAGGCTCATACATGTTCTTATTTAATGTCTTTGAACACCAAATCTGATATTTTCACTTGCATTTTCATGTTCAGTGTGTAACTAATAATCCTAATAATAATTCAGGCCAAAAAAAAATCGCCCCCAAAATTTGAAAATACTTTTTTATAATTAAAAAAAAAAAAATTCACATTTAAATATTTTTATTTGTAAAAAAAAAAAAAAAACATAAAAATCAGCATGACCTGCTCACGAAATAAATAATCACCAAAAAACGAGAAAACAAAATTCACTCACAAATTGTTAGGATCATTATTATACTAACATTAATCATAACCTGTTCAAATCTAACCCACGAATAATGCCCATTCTCC[A/T]GAAATTAATAGAAGAAGTGGAAGAGATGCTGAACAATCTCCCGGGTGTGACGTCAGTGCACGGTCGATTTTACGACCTGTCCAGCAAGTATTACCGCATCATTGGGAACCACGCTTTATACTACAAGGACGCCCTGCGATACCTGGGCTGTGTGGAAGCTAAAGACTTGCCAGGTAAATATAATGATGGCTGATGTTTACACTTTCACCACAGGATTCTTGCAGGAGCAACAGCGCCATCTAGTGTTGCATCCACACATCCACAGGTATAAATGAGAATTGAGGTTTACTTTTTCACTCGCGTTTTTGTGGTTTTCTCACAACAGAAGCAGAGCAGCAGGAGAGAGCTTTCACGTTAGGTCTGGCTGGTCTGCTCGGGGAAGGAGTTTATAACTTTGGCGAACTGGTGGGTGTCTGTATTTTTTTACTGTGTTATACTATTATAGAATTTATTTACATTTTAAATGTTTTAGGCTTTATTTTATTTTTGGATTTTATGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17160
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027625 Essential Splice Site 159 402 8 14
ENSDART00000104576 Essential Splice Site 135 378 7 13
ENSDART00000027625 Essential Splice Site 159 402 8 14
ENSDART00000104576 Essential Splice Site 135 378 7 13

The following transcripts of ENSDARG00000016239 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 25 (position 10700976)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 10393027
GRCz11 25 10489833
KASP Assay ID:
2261-9423.1 (used for ordering genotyping assays)
KASP Sequence:
CATTAATCATAACCTGTTCAAATCTAACCCAYGAATAATGCCCATTCTCC[A/T]GAAATTAATAGAAGAAGTGGAAGAGATGYTGAACAATCTCCCGGGTGTGA
Long Flanking Sequence:
GTCATTGTTTTGTTATTTTTTGCCCAATCAGGTTAAAGCGAGTGATGAAGCTGTTATTCTCTGCAAAACGTCCATTGGCAGCCTCAAACTCGACATCAGCGATCTCCCGGCAACAAAGGTCAGTCATTGGCATGTTTTCATTTTTGGAAGGCTCATACATGTTCTTATTTAATGTCTTTGAACACCAAATCTGATATTTTCACTTGCATTTTCATGTTCAGTGTGTAACTAATAATCCTAATAATAATTCAGGCCAAAAAAAAATCGCCCCCAAAATTTGAAAATACTTTTTTATAATTAAAAAAAAAAAAATTCACATTTAAATATTTTTATTTGTAAAAAAAAAAAAAAAACATAAAAATCAGCATGACCTGCTCACGAAATAAATAATCACCAAAAAACGAGAAAACAAAATTCACTCACAAATTGTTAGGATCATTATTATACTAACATTAATCATAACCTGTTCAAATCTAACCCACGAATAATGCCCATTCTCC[A/T]GAAATTAATAGAAGAAGTGGAAGAGATGCTGAACAATCTCCCGGGTGTGACGTCAGTGCACGGTCGATTTTACGACCTGTCCAGCAAGTATTACCGCATCATTGGGAACCACGCTTTATACTACAAGGACGCCCTGCGATACCTGGGCTGTGTGGAAGCTAAAGACTTGCCAGGTAAATATAATGATGGCTGATGTTTACACTTTCACCACAGGATTCTTGCAGGAGCAACAGCGCCATCTAGTGTTGCATCCACACATCCACAGGTATAAATGAGAATTGAGGTTTACTTTTTCACTCGCGTTTTTGTGGTTTTCTCACAACAGAAGCAGAGCAGCAGGAGAGAGCTTTCACGTTAGGTCTGGCTGGTCTGCTCGGGGAAGGAGTTTATAACTTTGGCGAACTGGTGGGTGTCTGTATTTTTTTACTGTGTTATACTATTATAGAATTTATTTACATTTTAAATGTTTTAGGCTTTATTTTATTTTTGGATTTTATGAA
Associated Phenotype:
Not determined