Busch Lab

ZMP

si:ch73-60i13.2

Ensembl ID:
ENSDARG00000063141
ZFIN ID:
ZDB-GENE-030131-7119
Description:
Novel protein similar to vertebrate R3H domain containing 1 (R3HDM1) [Source:UniProtKB/TrEMBL;Acc:B8
Human Orthologue:
R3HDM1
Human Description:
R3H domain containing 1 [Source:HGNC Symbol;Acc:9757]
Mouse Orthologue:
R3hdm1
Mouse Description:
R3H domain 1 (binds single-stranded nucleic acids) Gene [Source:MGI Symbol;Acc:MGI:2448514]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa37455 Nonsense Mutation detected in F1 DNA Not yet available
sa24103 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa37455
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
ENSDART00000091982 Nonsense 395 1028 11 23
ENSDART00000146322 Nonsense 50 729 1 13

The following transcripts of ENSDARG00000063141 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 12496022)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 12341885
GRCz11 22 12366662
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCCTGTGGCCCCTCATCCCTCTGCACCCATAGGGGGCAGCGCAGCCTCT[C/T]AGAGCAGCACTACTAACGCTAACATTAACGCTAACGCTAGCTTCTACATC
Long Flanking Sequence:
TAATACATTTAGATTCCTTTCTATTTTTTTATCAACCCTTTAAATTAAATAAATCTGAAATTAAATGTAATGAATAATAAAGAATGAATAGTCATAATAAATTAACAAAAATCTAACAACTTTCTTAAAAATAATCGCTATTTAATCGCTCTTTAACAGTCACCTAATACATCTTATTTTTTTGTCATATTTTTTTATTCAAACCCCCTTGCTTGCCTCCATCATTTTTTAACTTTGATATAATTTCCTGTCTATATATATTATCTGCTCTGGCCAACATCCTATGTTCATTCCCTCATTTCACCTCCCATCCTAAGTCCTCCAGTAAAGCTCTGGTTCTCCGTCCTCCTTCAGGTTCAGACTCTTCTAGTAGCGTAGGCTCTTCTTCCGGGTCTCTCTCTCGGCCTGCTCAGCTGTCGTTACCGGGCCCGGTTCGGCCCTTCACCATGGCCCCTGTGGCCCCTCATCCCTCTGCACCCATAGGGGGCAGCGCAGCCTCT[C/T]AGAGCAGCACTACTAACGCTAACATTAACGCTAACGCTAGCTTCTACATCGTTCCTCTGGACGCCAGCGCCATCCCGCCGGGCAGCGTCCTGCTCAATCCACAGACAGGTATCTCGGAGAACGGAGATTTTTTGTTAATGTGCGATACTAATTTTCCGTACTAATTCATTTGCGCGATTGCGATTTCTGCTGTGTTCATTGACCATGTCAGGTTTGTGTTACGCAGGTCAGCCGTTCGTCAACCCCGATGGAAGTCCTGTGGTTTATAACCCTGCGATGACATCACAGCAGGGGCGAGGCCAGCAGCACATGACTTTACATCCTGCCCCGCCCCCTCCTCCACCTCCACCTCTTCCCCCTCCACCTCAGCCGGCCAATCACCTTCTAGCGCAGGTGAGTAAACACAAATCTTTTATTTCATGGTTAATAATTACAAATTATTTTAAAGTTTTTGTTATTTTTGTTTTTGTCTTGTTTTAATTGTTTATTTAGTGACGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24103
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091982 None None 1028 None 23
ENSDART00000146322 Essential Splice Site 587 729 11 13

The following transcripts of ENSDARG00000063141 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 12516378)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 12362241
GRCz11 22 12387018
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTCATGTGGTCAACCACCACCATCATCACCATCTTCATCACCACCAG[G/A]TTGAACACGCACACACACTCTCACTCACTCATGATCGCACACATCCAGCG
Long Flanking Sequence:
TTACTAGCAAAGCCTAGGATGTGTTTCGACAATGTTTTATCATTACAACCAATCAATTTGTAGAGGAATAACTTCGATTTTACAATGGCAACAAATTCTAAACATTTTTAGTTAGACCAGCAGTCCTTTCCGGGGAACATCTGTGCTTGATATTGGAAGATTTTGAAACTTTTATAGAAAATAATGTAATATTAGCATTTACCCAAACCCAGAGAAACTGAATAATGTCTTTAATTTATCCATAGCTGTATTTCACAACAATAGTATCTTTGTGTTTGTTGGATTATGAAGCAGAAAACACTCATTACAGTATTTTTTGCCGGTCCTCCATTAACATCCAGCATGTGTTTTTTTTTTTTTTGCTGTGTTTTTCAGGTGACGGCAGGTATCCTCCTCTGATCGGGCAGCCGCTTCAGTATAACCCTCCCATCAGACCCCCACTAATGCACGGCTCTCATGTGGTCAACCACCACCATCATCACCATCTTCATCACCACCAG[G/A]TTGAACACGCACACACACTCTCACTCACTCATGATCGCACACATCCAGCGTCATCTTCATCCTCCTCATGGTCATGTTAAGCGCAGTCGTTCTTCAGCTCATGCTCCGCTCTGTTGTCGTGTCTCAGGGGCCTGTGGGTGTTCGGCACGGCGGCCGCCCTCGAAGACCCGCAAAGAAAACACTGTCTACTGACATGAGCCAAGGAGAGATGGGTAGGAAAACACACATTCATATACAGCGTGCAATATGCGTTCATAGTACACATTGGTTCTAATGCAGTACTACTATTCAATACAAATTAGCTTTTTACGTAGGTTTACGTTAGGTAGATTGTAGTTTAGTAAAACGAATGGAAATAAAACTGAACTATATTTAGTATAGTATTTAGTATTATTAAATAATACATGTCGTTTTTTGTTTGAGAATCATACATTTGAATAAATTCATATAAAATTAATAAATTTTTTTGAGTGTGTATATAAATGACAATATCATGAGTT
Associated Phenotype:
Not determined