|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 #||R4794 (G1)|
|Chromosomal Location||56749680-56802331 bp(-) (GRCm38)|
|Type of Mutation||small deletion (1 aa in frame mutation)|
|DNA Base Change (assembly)||ACTTCTTCTTCTTCTTCTTCTTC to ACTTCTTCTTCTTCTTCTTC at 56781176 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000030140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030140]|
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
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'- CCTGCACAATGTGTAACTGCATT -3'
(R):5'- ACAAATATTGTTTTGGAGGGTTCTGG -3'
(F):5'- CTGCATTTCCATTCAACAAACTG -3'
(R):5'- TCAGCCATGTCTTATGCAGAGGAC -3'