ZMP

psmf1

Ensembl ID:

ENSDARG00000022652

ZFIN ID:

ZDB-GENE-040718-282

Description:

Zgc:92785 [Source:UniProtKB/TrEMBL;Acc:Q6DGT0]

Human Orthologue:

PSMF1

Human Description:

proteasome (prosome, macropain) inhibitor subunit 1 (PI31) [Source:HGNC Symbol;Acc:9571]

Mouse Orthologue:

Psmf1

Mouse Description:

proteasome (prosome, macropain) inhibitor subunit 1 Gene [Source:MGI Symbol;Acc:MGI:1346072]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15640	Nonsense	Available for shipment	Available now
sa13126	Essential Splice Site, Splice Site	Available for shipment	Available now
sa20820	Essential Splice Site, Missense	Available for shipment	Available now

Mutation Details

Allele Name:

sa15640

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031597	Nonsense	37	136	1	8
ENSDART00000123304	Nonsense	37	242	1	7

Genomic Location (Zv9):

Chromosome 6 (position 51761551)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	51810733
GRCz11	6	51810732

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCTCTGATTTGTTTTGTACACTGGGAAATAGTGAAAAGTGGCTAKAAATG[T/A]ATRGGCATTGGAGATGAGGTAAGTGAACGTTGATTTTAATCGTATAAACG

Long Flanking Sequence:

GCTAGTTAAGTTGGCGGTTCATTCCGCTGTGGCGACCTCTGATTACTGAAGGGACTAAGCCGAAGGAAAATAAACGAATGAGCTATCTTCATTATAATCTTCAGCGGAATGAAAGTTCAGTCTATTGTTTCCAGTCGGGAATATTTCTCGTCGGACCGCTTCACCATGACCAACAAAAATATAAATAACGTTAAACATTTGTCGTCTTAACTTCTAAATTAACCTATATTTCATTCAAAACGAACAAGCATTAATATTTATTTGAATATTAGTTATTGCCGCATCAGCAGCTTGAACACGCCATGCATCCTGAGTAAAGTCGCGCTTTATTTTCACTCAGAGAGCTGTTTGTTTTGGTTTCATTTCTAGAGAATTTGAGTGTGTTTAAAGATGGCAGGACTGGAGCTGCTCTTTAACTGCGTATCAAACTCTTTAACGTGTTCTCAGGATGCTCTGATTTGTTTTGTACACTGGGAAATAGTGAAAAGTGGCTATAAATG[T/A]ATGGGCATTGGAGATGAGGTAAGTGAACGTTGATTTTAATCGTATAAACGTACTTTATTTAATCTGTTACAAAACATAGCCATTGATGTACATTTGGCACAGAAAAGTATTCTGTGCAAATTGTAAATAGTGAAGTCCTATATATCAAAGTACAACATTGTTCGCAGTCCAATGAATAGTGCTAATGTTGTTTTAAGTCACACTTACACTCACCGGCCACTTTATTAGGTACACATCTCCAATTGCTGGTTAACGCAAATTTCTATTAAGCCAATCAAATGGCAGCAACTCAATGCATTTAGGCATGTAGACATGGTCAAGACGATCTGCTGCAGTTCAAACCGAGCATCAGAATGGGAAAGAAAGATGATTTAAGTGACTTTGAACGTGGCATGGTTGTTAGTATTTCAGAAACTGCTAATGTATAGGGATTTTCACACACAACAATCTCGAGGGTTTACAGAGAATAATCTTAAAAAGCGAAAATATCCAGTGAGCGG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa13126

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:

C > T

Consequence:

Essential Splice Site, Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031597	Essential Splice Site	78	136	3	8
ENSDART00000123304	Splice Site	None	242	None	7

Genomic Location (Zv9):

Chromosome 6 (position 51759647)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	51808829
GRCz11	6	51808828

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTTTTTTTGCAGGATTCCACRACAGAAAAAGTGACTGATCTCACAGTGAA[C/T]CTGAGYGARTATGTTGAMGAGGCCAATCTGCACACATTTGAAAGGTTTGT

Long Flanking Sequence:

TAAATAATATTATAGGGAGGCATGTCACAAGTTGTAACTGAATCATTGTGCAAATTTAAAACCAACTTTACTTCAATGACCAAGCAGCTGTGTATAACTCATATAAAACATGTATCTTTTGAACAAATACAGAGCCAACAGGCATAATTACATACTTGACTAGTTTGATTTTTGAGCAAACTCATAAACGTTTGACGCATTATATACATGATGAACTTTACACAGCCTAAAGATGGAGAGAAGAAGACAGAATTGCTTCCTTCAGGCTGGAATGAAAGCAAAGAGCTTTATGCGCTCAGATACAGATCAAATGATGACAAATCCAACCTACTGCTCAAAGCCTTCACTGTGGATTCAAGCCTGATCTTCAATTTAATGGTAATAAAGTTGCAATTCAATCATAACTGCAATGCATTTCTTTAGATGACAGTCAGTGTTTTACTTCTTTTTTTTTTTTTGCAGGATTCCACGACAGAAAAAGTGACTGATCTCACAGTGAA[C/T]CTGAGCGAGTATGTTGACGAGGCCAATCTGCACACATTTGAAAGGTTTGTGAATTTAGCATTTTCGGATTCATTTTCAGCTTTCAGGCCAGATAAAATGCCACAAACTGTCTTTATTGTGTAATGCATTGCATTTTAACAACTCAATGCAGATTAATTGTTTTGTGCAAAATGGTGCAACTTTAGATTTATAAAATTACAGTTGCAGAATCACAACAATTGAAATGTAAATGCCTTTGAAAAAGTCATTATTTATAGTTTTAAATATTACAATTTTTTAAAAGTTATGTTAGAAAGATCCATAGTGGTGGAAATCACATACCAATAAATTTGCGATGATAGAAGCCGTACAGATACGGTGGCTCAGTGATTAGCACTGTCACCTTACAGCAAGAAGGTCGCAGGTTCGAGCCCCGGCTAGGTCAGTTAGCATTTTCAGTGTGGAGTTAGCATGTTCTCCCCATGTTCGTGTGGGTTTCCAGGTGCTCCGGTTTCCCCCAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa20820

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:

T > G

Consequence:

Essential Splice Site, Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031597	Missense	78	136	3	8
ENSDART00000123304	Essential Splice Site	78	242	3	7

Genomic Location (Zv9):

Chromosome 6 (position 51759645)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	51808827
GRCz11	6	51808826

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTTTTGCAGGATTCCACGACAGAAAAAGTGACTGATCTCACAGTGAACC[T/G]GAGCGAGTATGTTGACGAGGCCAATCTGCACACATTTGAAAGGTTTGTGA

Long Flanking Sequence:

AATAATATTATAGGGAGGCATGTCACAAGTTGTAACTGAATCATTGTGCAAATTTAAAACCAACTTTACTTCAATGACCAAGCAGCTGTGTATAACTCATATAAAACATGTATCTTTTGAACAAATACAGAGCCAACAGGCATAATTACATACTTGACTAGTTTGATTTTTGAGCAAACTCATAAACGTTTGACGCATTATATACATGATGAACTTTACACAGCCTAAAGATGGAGAGAAGAAGACAGAATTGCTTCCTTCAGGCTGGAATGAAAGCAAAGAGCTTTATGCGCTCAGATACAGATCAAATGATGACAAATCCAACCTACTGCTCAAAGCCTTCACTGTGGATTCAAGCCTGATCTTCAATTTAATGGTAATAAAGTTGCAATTCAATCATAACTGCAATGCATTTCTTTAGATGACAGTCAGTGTTTTACTTCTTTTTTTTTTTTTGCAGGATTCCACGACAGAAAAAGTGACTGATCTCACAGTGAACC[T/G]GAGCGAGTATGTTGACGAGGCCAATCTGCACACATTTGAAAGGTTTGTGAATTTAGCATTTTCGGATTCATTTTCAGCTTTCAGGCCAGATAAAATGCCACAAACTGTCTTTATTGTGTAATGCATTGCATTTTAACAACTCAATGCAGATTAATTGTTTTGTGCAAAATGGTGCAACTTTAGATTTATAAAATTACAGTTGCAGAATCACAACAATTGAAATGTAAATGCCTTTGAAAAAGTCATTATTTATAGTTTTAAATATTACAATTTTTTAAAAGTTATGTTAGAAAGATCCATAGTGGTGGAAATCACATACCAATAAATTTGCGATGATAGAAGCCGTACAGATACGGTGGCTCAGTGATTAGCACTGTCACCTTACAGCAAGAAGGTCGCAGGTTCGAGCCCCGGCTAGGTCAGTTAGCATTTTCAGTGTGGAGTTAGCATGTTCTCCCCATGTTCGTGTGGGTTTCCAGGTGCTCCGGTTTCCCCCACAG

Associated Phenotype:

Not determined