Mutagenetix > Incidental Mutations

Incidental Mutation 'R1601:Ikbkap'

176135

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

039638-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56774756 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 740 (K740*)

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000030140
AA Change: K740*

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: K740*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140595

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,870,213	S169N	probably benign	Het
4933416C03Rik	T	C	10: 116,113,616	S2G	probably damaging	Het
Adgra2	T	C	8: 27,110,018		probably null	Het
Adgrb2	T	C	4: 129,992,837	S257P	probably benign	Het
Adgre1	A	G	17: 57,441,353	K518E	probably benign	Het
Anxa7	A	T	14: 20,464,615	Y64*	probably null	Het
Arhgef7	A	G	8: 11,782,638		probably null	Het
Cdc42bpa	T	A	1: 180,065,001	Y243*	probably null	Het
Cdk14	C	T	5: 5,135,378	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,333,631	E54G	probably damaging	Het
Crx	T	C	7: 15,867,811		probably null	Het
Cyp24a1	A	G	2: 170,485,691	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,150,385	M810V	probably damaging	Het
Dock10	T	C	1: 80,549,802	T1077A	probably benign	Het
Dopey1	G	A	9: 86,536,250	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,766,408	H241L	probably benign	Het
Enah	A	T	1: 181,919,620	L523*	probably null	Het
Fabp3	T	C	4: 130,308,848	L24P	probably benign	Het
Fat2	A	G	11: 55,282,010	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,968,965	M337T	possibly damaging	Het
Gas6	G	T	8: 13,465,786	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Hrh4	G	A	18: 13,015,898	V106I	possibly damaging	Het
Ido2	G	T	8: 24,576,189	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,653,658	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,658,452	S836P	probably benign	Het
Kcng3	A	T	17: 83,588,339	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,808,731	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,005,088	S553G	probably benign	Het
Krt82	A	T	15: 101,545,153	I266N	probably damaging	Het
Lama5	A	T	2: 180,197,745	L736Q	probably damaging	Het
Lnx2	A	G	5: 147,033,519	C138R	probably damaging	Het
Mcm5	T	C	8: 75,119,354	C397R	possibly damaging	Het
Me1	A	C	9: 86,678,012	Y52D	probably damaging	Het
Muc4	C	A	16: 32,755,501		probably benign	Het
Myo18b	G	T	5: 112,871,498	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,185,772	L170P	probably damaging	Het
Neb	A	T	2: 52,287,252	L1359*	probably null	Het
Nomo1	C	A	7: 46,046,955	S299Y	probably damaging	Het
Olfr1359	C	A	13: 21,703,226	T75K	probably damaging	Het
Olfr1509	A	C	14: 52,450,442	T10P	probably benign	Het
Olfr322	A	T	11: 58,666,077	R173W	probably damaging	Het
Olfr57	A	T	10: 79,035,504	Y236F	possibly damaging	Het
Onecut1	A	T	9: 74,862,691	H132L	probably benign	Het
Paqr3	A	G	5: 97,111,389	Y19H	probably benign	Het
Prdx5	T	C	19: 6,907,558	H140R	possibly damaging	Het
Prox1	T	C	1: 190,161,006	D414G	probably damaging	Het
Ptprh	T	G	7: 4,552,638	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,917,222	D412V	possibly damaging	Het
Sars2	C	T	7: 28,748,971	T259M	probably benign	Het
Sbf2	T	C	7: 110,340,076		probably null	Het
Sbno2	C	T	10: 80,060,492	R898H	probably damaging	Het
Smox	C	A	2: 131,520,174	T172N	probably damaging	Het
Tdrd9	C	T	12: 112,023,253	R341*	probably null	Het
Thrap3	C	G	4: 126,180,101	G284A	probably damaging	Het
Tmtc4	A	G	14: 122,944,826	V271A	probably benign	Het
Trank1	A	G	9: 111,373,477	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,896,835	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,436	V1398A	probably benign	Het
Xbp1	C	T	11: 5,521,975	R34W	probably 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
R2076:Ikbkap	UTSW	4	56786620	missense	probably damaging	0.98
R2153:Ikbkap	UTSW	4	56779636	intron	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
R4794:Ikbkap	UTSW	4	56781176	small deletion	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CCTCGTGTGCCCTCAGTGATATAATG -3'
(R):5'- GGGAAACCTGGAGGTTGTTCATCATC -3'

Sequencing Primer
(F):5'- CAATCTGTTTTACGAAGGTTTCCAC -3'
(R):5'- TCTTGGCACAGATTCGGAAG -3'

Posted On

2014-04-24