Busch Lab

ZMP

si:ch211-251j10.5

Ensembl ID:
ENSDARG00000077536
ZFIN IDs:
ZDB-GENE-030131-1217, ZDB-GENE-081105-64
Description:
U5 small nuclear ribonucleoprotein 200 kDa helicase [Source:RefSeq peptide;Acc:NP_001116729]
Human Orthologues:
HELQ, POLQ, SNRNP200
Human Descriptions:
helicase, POLQ-like [Source:HGNC Symbol;Acc:18536]
polymerase (DNA directed), theta [Source:HGNC Symbol;Acc:9186]
small nuclear ribonucleoprotein 200kDa (U5) [Source:HGNC Symbol;Acc:30859]
Mouse Orthologues:
Helq, Polq, Snrnp200
Mouse Descriptions:
helicase, POLQ-like Gene [Source:MGI Symbol;Acc:MGI:2176740]
polymerase (DNA directed), theta Gene [Source:MGI Symbol;Acc:MGI:2155399]
small nuclear ribonucleoprotein 200 (U5) Gene [Source:MGI Symbol;Acc:MGI:2444401]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa21333 Nonsense Available for shipment Available now
sa17773 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa21333
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
ENSDART00000109885 Nonsense 270 2134 7 45

The following transcripts of ENSDARG00000077536 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 31897303)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 31040029
GRCz11 8 31049261
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAGAAGGATCTTCACCCTCGAGACATCGATGCCTTCTGGCTTCAGCGA[C/T]AGCTCAGCCGCTTCTACAACGATGCCATCGTGTCCCAGAAAAAAGCAGAC
Long Flanking Sequence:
CTGCAATTAATCCAACTTTATTACAGATTAGATAATGGAAACACACAAAAAGCAATAACAGCCACAAAATATTACAAAGTCTACAATTAACCAAAAATACATTGTCACCAACCCTCAGTTTAATCTTAGGCCTAGAAGTTTGAGCTGTTTTAACTTGAGGAAGTTTGCACTGACAGGTCTTAAAATATATCGTCTGTTTTGTTTCAAGATTTTTTAAAGACACTTTTATAAAAAATTACTTGTATGCCAAATATAAACTAGGGCCTTATCCTGGAAACCAGGCTTTAGAAATAATCAATGAAAAAACTACTCCTGGATCATTAGTAAGTAAATAATAATAATAATGATAAATAATTATAGGGTTTACAGATCACTGATATAAAGTACAAGAACCAGCTTATCATTTTCTTTCTCCATAGCTGGGAAACACAGGAGATGTAATGATGACCAAAAAGAAGGATCTTCACCCTCGAGACATCGATGCCTTCTGGCTTCAGCGA[C/T]AGCTCAGCCGCTTCTACAACGATGCCATCGTGTCCCAGAAAAAAGCAGACGAGGTCTTGGAGATCCTTAAGGTAGAAAATGTTCATGTCCTTAGAGACTTTTGGATTTGTTTGTATTTGTTTTGTTTTTGAGTTGCTGAATGAAAACTTTTTTTTTTGTTAGACTGCCAGTGATGACAGAGAGTGTGAGAACCAGTTGGTGCTGCTTTTAGGCTTCAACACATTCGACTTCATCAAGGTCCTGCGCCAGCACAGGCGGATGAGTAAGTAGATTGTGTTGGATTAAATGGATTGGAATTTTTGAGAATGTTGCGCCAATGTGACTTAATGTTAAAAAGATATACTGCTTTTTTTTAATGTTGCTTTTTTGTCATATTTAGTCCTGTACTGCACCATGCTGGCCAGTGCTCAAAGTGAAGCAGAGAAGGAGAAGATCATTAATAAAATGGAGGCCGATCAGGATCTTTCCAAAGTTCTCTACCAGCTGCAAGAGACTGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17773
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109885 Nonsense 1016 2134 22 45

The following transcripts of ENSDARG00000077536 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 31890504)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 31033230
GRCz11 8 31042462
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGCTGCTAAAGCCCACACTGAGTGAGATCGAGCTCTTCAGGGTGTTCT[C/A]GCTTTCATCKGAGTTTAGGAAMATTACTGTCAGAGAGGTACGTGCCTTGT
Long Flanking Sequence:
GTATGTGCGCATGCTGCGTAACCCCACACTATACGGCGTGTCCCATGACGACCGCAGCATAGACCCCCTGCTGGAGCGTCGCAGGATGGACCTGGTGCACACGGCAGCTACCGTCCTGGAGAAGAACAACCTGGTCAAATACGACAAGAGATCTGGCAGCTTTCAGGTACACACTGTTCTTGCTCATCACATTAACCACTGCTCTAAACACCTCTTGGCACATCCAGATGATTTATATGCACAATCAATGCCGAGTTTGTACCAGCTTGAAATCCCCCAGCATGGCATAATGGATTTCAGCACGGCTGCCTGAATCTATTGATTAAATATTTAAACGGCAGCAACAGATGTGCTTTAAATGATGGCTAATGTGTTTGCATTGAAGGTGACAGACCTGGGGCGCATCGCCAGTCATTTCTACATCACCCATGAGTCCATAATGACTTACAACCAGCTGCTAAAGCCCACACTGAGTGAGATCGAGCTCTTCAGGGTGTTCT[C/A]GCTTTCATCTGAGTTTAGGAACATTACTGTCAGAGAGGTACGTGCCTTGTTTTATTTAACCAGACGAATTGGTTCATCCAAATCTCTGCTTCCAGGATTTAACAAGCGTGGTTCTTACGTTCTGATTGACAGGAAGAAAAACTCGAGCTTCAGAAACTGCTCGAGCGAGTCCCTATTCCAGTGAAGGAAAGCATTGAAGAACCCAGTGCAAAGGTTTTTTTTTTTTTTTTTAAATACATGTCAGTTGTACGTGAAGTTGGCTGATCCTTTTTTATCTTAAACGTTATGTCTATTTTTCAGATTAACGTGCTGCTGCAGGCATATATCTCTCAGCTCAAACTGGAGGGCTTTGCTTTAATGGCTGACATGGTCTATGTGACGCAGGCGAGTGTAGAATAAAATCTTGTCTTATAATAAAAAAACATTTTTCCCTTCAGTCTGACTGATTTCCTGTATTAACATTGTGTTCGACTTTTGCAGAGTGCTGGCAGGCTGATGAG
Associated Phenotype:
Not determined