Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Ikbkb'

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1409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ikbkb

Ensembl Gene

ENSMUSG00000031537

Gene Name

inhibitor of kappaB kinase beta

Synonyms

IKK2, IKK[b], IKKbeta, IKK-beta, IKK-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

22659212-22706589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22706111 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 26 (F26I)

Ref Sequence

ENSEMBL: ENSMUSP00000138378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033939] [ENSMUST00000063401] [ENSMUST00000125314] [ENSMUST00000135326]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033939
AA Change: F26I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: F26I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	15	247	1.2e-38	PFAM
Pfam:Pkinase	15	296	1.2e-54	PFAM
Pfam:Kdo	31	176	1.3e-7	PFAM
IKKbetaNEMObind	705	742	4.71e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063401
AA Change: F26I

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: F26I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	15	247	7.3e-39	PFAM
Pfam:Pkinase	15	296	6.9e-56	PFAM
Pfam:Kdo	44	177	3e-8	PFAM
IKKbetaNEMObind	705	737	1.83e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125314
AA Change: F26I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: F26I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	15	248	2.8e-38	PFAM
Pfam:Pkinase	15	296	2.5e-55	PFAM
Pfam:Kdo	43	177	1.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126439

Predicted Effect

probably damaging
Transcript: ENSMUST00000135326
AA Change: F26I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: F26I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	15	248	2.8e-38	PFAM
Pfam:Pkinase	15	296	2.5e-55	PFAM
Pfam:Kdo	43	177	1.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150259

Coding Region Coverage

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 phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit liver degeneration and die in midgestation. Conditional mutations that lack gene expression in lymphoid cells or epidermal keratinocytes exhibit B and T cell deficits and skin inflammation, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Ikbkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ikbkb	APN	8	22660447	missense	possibly damaging	0.84
IGL02271:Ikbkb	APN	8	22665903	missense	probably benign	0.00
IGL02569:Ikbkb	APN	8	22693883	missense	probably damaging	1.00
IGL02610:Ikbkb	APN	8	22675072	critical splice acceptor site	probably null
IGL03085:Ikbkb	APN	8	22682786	missense	probably benign	0.03
Baby	UTSW	8	22675036	missense	probably damaging	1.00
Impaired	UTSW	8	22666020	missense	probably damaging	1.00
Kiki	UTSW	8	22671642	missense	possibly damaging	0.95
R0110:Ikbkb	UTSW	8	22671635	nonsense	probably null
R0366:Ikbkb	UTSW	8	22695260	splice site	probably benign
R0469:Ikbkb	UTSW	8	22671635	nonsense	probably null
R0510:Ikbkb	UTSW	8	22671635	nonsense	probably null
R1386:Ikbkb	UTSW	8	22665617	missense	possibly damaging	0.69
R1436:Ikbkb	UTSW	8	22673403	missense	probably benign	0.24
R1645:Ikbkb	UTSW	8	22691066	missense	probably damaging	0.98
R1695:Ikbkb	UTSW	8	22673480	missense	probably benign	0.00
R2118:Ikbkb	UTSW	8	22667217	splice site	probably benign
R2120:Ikbkb	UTSW	8	22667217	splice site	probably benign
R2121:Ikbkb	UTSW	8	22667217	splice site	probably benign
R2124:Ikbkb	UTSW	8	22666020	missense	probably damaging	1.00
R2124:Ikbkb	UTSW	8	22667217	splice site	probably benign
R2148:Ikbkb	UTSW	8	22682745	missense	probably damaging	1.00
R2179:Ikbkb	UTSW	8	22681753	critical splice acceptor site	probably null
R2897:Ikbkb	UTSW	8	22669677	missense	possibly damaging	0.71
R3861:Ikbkb	UTSW	8	22678836	missense	possibly damaging	0.94
R4019:Ikbkb	UTSW	8	22671712	missense	probably benign	0.03
R4723:Ikbkb	UTSW	8	22669607	missense	probably benign	0.24
R4962:Ikbkb	UTSW	8	22681677	missense	probably damaging	1.00
R5715:Ikbkb	UTSW	8	22678850	missense	probably damaging	1.00
R6738:Ikbkb	UTSW	8	22675036	missense	probably damaging	1.00
R6875:Ikbkb	UTSW	8	22665893	missense	probably damaging	0.99
R7054:Ikbkb	UTSW	8	22671642	missense	possibly damaging	0.95
R7284:Ikbkb	UTSW	8	22668960	missense	probably benign	0.32
R7383:Ikbkb	UTSW	8	22669050	missense	probably benign
R7633:Ikbkb	UTSW	8	22671741	missense	probably benign	0.08
R7768:Ikbkb	UTSW	8	22695236	missense	probably damaging	0.99
R7819:Ikbkb	UTSW	8	22671726	missense	probably benign	0.05
R8332:Ikbkb	UTSW	8	22665625	missense	possibly damaging	0.79
R8369:Ikbkb	UTSW	8	22691081	missense	probably benign	0.32
R8421:Ikbkb	UTSW	8	22678788	critical splice donor site	probably null

Posted On

2011-07-12