|Institutional Source||Beutler Lab|
|Gene Name||inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein|
|Synonyms||C78473, Elp1, IKAP, 3110040G09Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7129 (G1)|
|Chromosomal Location||56749680-56802331 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 56787944 bp|
|Amino Acid Change||Histidine to Arginine at position 329 (H329R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030140]|
|Predicted Effect||probably damaging
AA Change: H329R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H329R
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ikbkap||
(F):5'- ATTGGCACTATTCCCAGAGCTC -3'
(R):5'- GCTTCTGATATATTGATGCGTGAC -3'
(F):5'- ATTCCCAGAGCTCCGATCAGTG -3'
(R):5'- CTGGAGCTCACTTTGTAGACCAG -3'