Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Ikbkap'

368835

Institutional Source

Beutler Lab

Gene Symbol

Ikbkap

Ensembl Gene

ENSMUSG00000028431

Gene Name

inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein

Synonyms

C78473, Elp1, IKAP, 3110040G09Rik

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4794 (G1)

Quality Score

114

Status

Not validated

Chromosome

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 (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030140]

AlphaFold

Q7TT37

Predicted Effect

probably benign
Transcript: ENSMUST00000030140

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

Domain	Start	End	E-Value	Type
Pfam:IKI3	1	955	N/A	PFAM
low complexity region	1186	1205	N/A	INTRINSIC
low complexity region	1210	1225	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126441

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

MGI Phenotype

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

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Ikbkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ikbkap	APN	4	56784537	critical splice donor site	probably null
IGL01521:Ikbkap	APN	4	56771059	missense	probably benign	0.27
IGL02069:Ikbkap	APN	4	56779731	missense	probably benign	0.31
IGL02162:Ikbkap	APN	4	56796502	critical splice donor site	probably null
IGL02252:Ikbkap	APN	4	56759813	missense	probably benign	0.09
IGL02726:Ikbkap	APN	4	56767878	critical splice acceptor site	probably null
IGL02822:Ikbkap	APN	4	56774520	critical splice donor site	probably null
IGL03024:Ikbkap	APN	4	56774686	critical splice donor site	probably null
IGL03126:Ikbkap	APN	4	56779717	missense	probably benign
R0211:Ikbkap	UTSW	4	56795545	missense	probably damaging	1.00
R0239:Ikbkap	UTSW	4	56784596	missense	probably benign	0.00
R0239:Ikbkap	UTSW	4	56784596	missense	probably benign	0.00
R0603:Ikbkap	UTSW	4	56792105	missense	possibly damaging	0.94
R1109:Ikbkap	UTSW	4	56786723	missense	probably benign	0.00
R1314:Ikbkap	UTSW	4	56786647	missense	probably benign	0.00
R1333:Ikbkap	UTSW	4	56770969	splice site	probably benign
R1434:Ikbkap	UTSW	4	56781193	missense	probably benign	0.02
R1547:Ikbkap	UTSW	4	56792090	missense	probably damaging	1.00
R1547:Ikbkap	UTSW	4	56798810	missense	probably damaging	1.00
R1587:Ikbkap	UTSW	4	56786666	nonsense	probably null
R1601:Ikbkap	UTSW	4	56774756	nonsense	probably null
R2076:Ikbkap	UTSW	4	56786620	missense	probably damaging	0.98
R2153:Ikbkap	UTSW	4	56779636	splice site	probably null
R2263:Ikbkap	UTSW	4	56755298	splice site	probably null
R2325:Ikbkap	UTSW	4	56784622	missense	probably benign	0.00
R2333:Ikbkap	UTSW	4	56775456	missense	probably benign	0.28
R3151:Ikbkap	UTSW	4	56770985	missense	probably benign	0.24
R3622:Ikbkap	UTSW	4	56759925	splice site	probably null
R3624:Ikbkap	UTSW	4	56798708	missense	possibly damaging	0.52
R3889:Ikbkap	UTSW	4	56759852	missense	probably damaging	1.00
R4007:Ikbkap	UTSW	4	56794139	missense	probably damaging	1.00
R4196:Ikbkap	UTSW	4	56755353	missense	probably damaging	1.00
R5330:Ikbkap	UTSW	4	56800001	missense	probably benign	0.01
R5331:Ikbkap	UTSW	4	56800001	missense	probably benign	0.01
R5360:Ikbkap	UTSW	4	56800104	missense	probably benign	0.06
R5362:Ikbkap	UTSW	4	56778969	missense	probably damaging	0.99
R5645:Ikbkap	UTSW	4	56776920	missense	possibly damaging	0.93
R5877:Ikbkap	UTSW	4	56787807	missense	probably damaging	1.00
R6268:Ikbkap	UTSW	4	56762305	missense	probably damaging	1.00
R6284:Ikbkap	UTSW	4	56762281	missense	probably damaging	0.99
R6526:Ikbkap	UTSW	4	56798812	critical splice acceptor site	probably null
R6610:Ikbkap	UTSW	4	56758236	missense	probably benign	0.02
R6627:Ikbkap	UTSW	4	56784647	splice site	probably null
R6786:Ikbkap	UTSW	4	56771555	missense	possibly damaging	0.80
R6823:Ikbkap	UTSW	4	56787939	missense	probably damaging	1.00
R7129:Ikbkap	UTSW	4	56787944	missense	probably damaging	1.00
R7157:Ikbkap	UTSW	4	56781176	small deletion	probably benign
R7180:Ikbkap	UTSW	4	56796535	missense	probably damaging	1.00
R7391:Ikbkap	UTSW	4	56781211	missense	possibly damaging	0.82
R7391:Ikbkap	UTSW	4	56781212	missense	probably benign	0.00
R7403:Ikbkap	UTSW	4	56778994	missense	probably damaging	1.00
R7432:Ikbkap	UTSW	4	56776925	missense	probably damaging	1.00
R7674:Ikbkap	UTSW	4	56792075	missense	probably damaging	0.97
R7736:Ikbkap	UTSW	4	56776920	missense	possibly damaging	0.93
R7755:Ikbkap	UTSW	4	56774552	missense	possibly damaging	0.80
R7760:Ikbkap	UTSW	4	56790892	missense	probably benign	0.20
R7849:Ikbkap	UTSW	4	56758968	missense	possibly damaging	0.65
R7959:Ikbkap	UTSW	4	56774737	missense	probably damaging	1.00
R7970:Ikbkap	UTSW	4	56771466	missense	probably damaging	1.00
R8324:Ikbkap	UTSW	4	56772491	missense	probably damaging	1.00
R8456:Ikbkap	UTSW	4	56781176	small deletion	probably benign
R8671:Ikbkap	UTSW	4	56771453	missense	probably damaging	1.00
R9245:Ikbkap	UTSW	4	56771003	missense	probably benign	0.01
Z1176:Ikbkap	UTSW	4	56790146	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGCACAATGTGTAACTGCATT -3'
(R):5'- ACAAATATTGTTTTGGAGGGTTCTGG -3'

Sequencing Primer
(F):5'- CTGCATTTCCATTCAACAAACTG -3'
(R):5'- TCAGCCATGTCTTATGCAGAGGAC -3'

Posted On

2016-02-04