Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Ikbkap'

643972

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56772491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 877 (E877K)

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

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

AlphaFold

Q7TT37

Predicted Effect

probably damaging
Transcript: ENSMUST00000030140
AA Change: E877K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: E877K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	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
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
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
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
R9562:Ikbkap	UTSW	4	56772521	missense	probably benign	0.00
R9565:Ikbkap	UTSW	4	56772521	missense	probably benign	0.00
R9568:Ikbkap	UTSW	4	56786711	missense	probably damaging	1.00
Z1176:Ikbkap	UTSW	4	56790146	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGAGACTCAGATCTGCATCC -3'
(R):5'- TCCAAGTGACTCTGTTCTGATGG -3'

Sequencing Primer
(F):5'- GGAGACTCAGATCTGCATCCACTTG -3'
(R):5'- GGCCTCAGACTCACTATGTAGCTAG -3'

Posted On

2020-09-02