|Institutional Source||Beutler Lab|
|Gene Name||receptor-interacting serine-threonine kinase 4|
|Synonyms||Ankrd3, DIk, PKK, ANKK2, RIP4|
|Is this an essential gene?||Possibly non essential (E-score: 0.322)|
|Stock #||R7621 (G1)|
|Chromosomal Location||97741933-97763787 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 97745925 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 379 (V379E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019386 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019386]|
|Predicted Effect||probably damaging
AA Change: V379E
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V379E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ripk4||
(F):5'- TCTGTGGTCTGAGCACAAGC -3'
(R):5'- TTCCATCTTTGCAGGCCAG -3'
(F):5'- TGATGACACCAAAACCTCATTAGAG -3'
(R):5'- GAGTCCTCACGCCTCAAG -3'