ENSDARG00000089319

Ensembl ID:
ENSDARG00000089319
Human Orthologues:
ANKK1, RIPK1, RIPK3, RIPK4
Human Descriptions:
ankyrin repeat and kinase domain containing 1 [Source:HGNC Symbol;Acc:21027]
receptor (TNFRSF)-interacting serine-threonine kinase 1 [Source:HGNC Symbol;Acc:10019]
receptor-interacting serine-threonine kinase 3 [Source:HGNC Symbol;Acc:10021]
receptor-interacting serine-threonine kinase 4 [Source:HGNC Symbol;Acc:496]
Mouse Orthologues:
Ankk1, Ripk1, Ripk3, Ripk4
Mouse Descriptions:
ankyrin repeat and kinase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:3045301]
receptor (TNFRSF)-interacting serine-threonine kinase 1 Gene [Source:MGI Symbol;Acc:MGI:108212]
receptor-interacting serine-threonine kinase 3 Gene [Source:MGI Symbol;Acc:MGI:2154952]
receptor-interacting serine-threonine kinase 4 Gene [Source:MGI Symbol;Acc:MGI:1919638]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8769 Nonsense Mutation detected in F1 DNA During 2018
sa8480 Nonsense Mutation detected in F1 DNA During 2018
sa34083 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa8769
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130097 Nonsense 29 513 1 11
Genomic Location (Zv9):
Chromosome 7 (position 29994306)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28386829
GRCz11 7 28658022
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAGGACCTGCGAGATGTAGTTCTGGTGAGAACGAGCGTAGGCGCCTGTT[T/A]GCGAGGACATTTCGGGAGAACTGGRGGCAAAGTGGCTGTCAAGTTAATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8480
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130097 Nonsense 60 513 2 11
Genomic Location (Zv9):
Chromosome 7 (position 29993839)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28386362
GRCz11 7 28657555
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
NNNNNTTCTTTTCAGTAAATGGATTGACAGGTTAAAGAGAGCAGGGATGT[T/A]GGRGCAGGTGTGTTGCGAGCAAGTACTCRTCCCGCTGGGTGTGTGCMMAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34083
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130097 Nonsense 85 513 2 11
Genomic Location (Zv9):
Chromosome 7 (position 29993764)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28386287
GRCz11 7 28657480
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTCATCCCGCTGGGTGTGTGCACATCACACTCTCTAGTTGGTCTGGTTT[G/A]GGATTGGATGCCTGAAGGATCTCTAGATTCTCTGCTGCATGAGGTAAGCC
Associated Phenotype:
Not determined

OMIM

OMIM information for RIPK1

More OMIM information for RIPK4

OMIM information for RIPK3

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