Busch Lab

ZMP

LOC100333695

Ensembl ID:
ENSDARG00000090946
Human Orthologue:
NLRC5
Human Description:
NLR family, CARD domain containing 5 [Source:HGNC Symbol;Acc:29933]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa42851 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42852 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42851
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113401 Essential Splice Site 50 1175 1 10
Genomic Location (Zv9):
Chromosome 17 (position 4168033)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 4242868
GRCz11 17 4400993
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGAGCCCTCCTGAATTCAGTGACGGAGCAGTGACATCTGTCCCTGAG[T/C]GAGTTTAAAAACTTTGATTTAACTGTATATATATATTGAGTGAATGGCCA
Long Flanking Sequence:
TGTTGCTTTGTATTTGTTATCTGTTGATGTTTTCTTGTATTTGTATGATTTTTGCATATTCTAATAAAAAAAAAAAAAAGATGCAAAAACCTCTAATTGGCGTCTGATTTTTTTCTCTAAAATTAGCATTTTTATCAGGCTCCTGTGTGTATGTTCCATAATATCACTTTTATCGCAAAAAAATAAGCCTTTTTCCTGGTCTTTAATGTGAAATATCTCAACATAAACGAAGGAGGCTGAGAAAAATGTTCATTTTTGATGGAAATTTTAGACGATATTTAGAGGTTTTTGCATCTGAATTCTTTTTATTAGTATTTCTTTTATTTTATTTGTTCTGCAGTTCTTTTAAAATGAGTGTCTGCGAGAAGAGAGAGAAGGAGGAGGATGTGCACATACACAAACCAGCATCTCCAGAACCCAGCTGTGTGTCTATAAAGAGTAACAGATCTATCCTGAGCCCTCCTGAATTCAGTGACGGAGCAGTGACATCTGTCCCTGAG[T/C]GAGTTTAAAAACTTTGATTTAACTGTATATATATATTGAGTGAATGGCCATTTACATATCTTGCATATCTCAATAATGTACATTACATATATGTGTAGCTAGGTCATAAACTTGCTTCAAAACTCTAAGGACAGTTGTAACACTCTGACTTTGTGTGTTTAATTTAAAATGATCGTCTTGTCCTTTTTACTGAAAACATATCAGTTGTATTATTAATTGGTGCACCTATGTTTGTATCTTGTATTAAAAGATGACCAAACTAGTGTATTTCTATTAGTCTGTGTGTTATGTAGTAAAATAAAAGTTGACCCCAGTTTTCCCTAGCAGTTTTAGGACTTTGTTGTCAAAACATTTGAAGAATGAAGATATGAAATGTTCTTGCAGCGCTGCCTGTACAAAGAGTCTCTATAAGGATGTTCAGACACACAAAACAAAATCTTCAGATCTCAGCTGTGTGTCTATAAAGAGTGACAGATCTATCCTGAGCCCCCCTGAATTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42852
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113401 Nonsense 857 1175 6 10
Genomic Location (Zv9):
Chromosome 17 (position 4174928)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 4249763
GRCz11 17 4407888
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACCTGCAGGATTCAGGAGTGAAGCTGCTCTCTGATGGACTGAAGAGTTG[T/A]CAACTCAACACACTGAGGTAAGAAAGAAGGATAAAGATTTGTTTGGGTAT
Long Flanking Sequence:
AATTGTTTTACAACACATACAATTTTGTCTTTTATTACAGTAAAATATATGAACTGTACCTGTAATTTTACCTGCTCAAAGAAAACACTCTTTTTAAATGTGGCAGAGCACATATACGATAAATCACGACAGTAACTAAAAATGACTATGATCCATTACTGAATCAATGCATCTGCATCTGCATCTTGGTGCATTGTAGAAACAATTCATTTCGACACTCCATGTTATGATGTACTGAAACTTTACTGACAACATAACATCAAATTGAACAGAATCAATGACATGATAATCAGAAGACTTGGGACTTCCCTGATGTGAACCCACCATCTACTTTTTTTCATCCTATGTTATAGACTCATTGCCTGCAGTCTCACTGGTCAGTGCTGTGAAAGTTTGTCTTCATGTCTACAATCCTCAAAATCATTGATGGAGCTGGACCTGAGTCACAATGACCTGCAGGATTCAGGAGTGAAGCTGCTCTCTGATGGACTGAAGAGTTG[T/A]CAACTCAACACACTGAGGTAAGAAAGAAGGATAAAGATTTGTTTGGGTATGAAATGAAAAAGACCCATTGCAATGGTACCTAATCTGAGAGTTTGTATTAAATCAGCAGAACGACATAAGATTTTGGGATTGTTGTTTGGGATTGATCTGTTGTGTTAAATATTCTTTGGTCTTCAAAACCATAAAAAACACTGATGCTAATTTAACCATTGAAAATATCAATGTACAGAGTTTTGACATGCTTGCTATATTATATGTGTATTTATGTTTTGCTATGTATTTCTGCATGGATGAAAGGGCTATAATATATTATAATATCTTAGCCTTATTTCTGTAGATTATTCAGATTTACTCCAGATGGTAATTTAAATATTATCCATTTGAATGTTATCAATACTAGGTTTAGAAAATAAAAGACAGCCACTTCATCTGTACTAAACAATATTTCAACCTGTGTTATAGACTCATTGCCTGTAGTCTCACTGATCAGTGCTGTGAAA
Associated Phenotype:
Not determined