Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Ikbkb'

565870

Institutional Source

Beutler Lab

Gene Symbol

Ikbkb

Ensembl Gene

ENSMUSG00000031537

Gene Name

inhibitor of kappaB kinase beta

Synonyms

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

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7284 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

22659212-22706589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22668960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 501 (T501A)

Ref Sequence

ENSEMBL: ENSMUSP00000033939 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033939
AA Change: T501A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: T501A

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

probably benign
Transcript: ENSMUST00000063401
AA Change: T501A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: T501A

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 benign
Transcript: ENSMUST00000125314

SMART Domains

Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537

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

probably benign
Transcript: ENSMUST00000135326

SMART Domains

Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,734,583	H942Q	probably benign	Het
2900092C05Rik	G	T	7: 12,512,678	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809		probably null	Het
Best1	T	C	19: 9,986,373		probably null	Het
Bhlha9	A	G	11: 76,672,666	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319	S1763P	probably damaging	Het
Dars	T	C	1: 128,372,267	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912	D799G	probably damaging	Het
Kbtbd3	C	T	9: 4,330,690	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228	I313N	probably damaging	Het
Kirrel	A	C	3: 87,083,387	D709E	probably benign	Het
Klb	T	A	5: 65,383,478	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Myh9	G	A	15: 77,787,596	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702	T236A	probably benign	Het
Neb	T	C	2: 52,258,792	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090	M778K	probably benign	Het
Npas2	A	G	1: 39,324,467	D209G	probably benign	Het
Nploc4	C	T	11: 120,416,370	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,564,034	I506F	probably damaging	Het
Olfr197	A	G	16: 59,185,968	*172Q	probably null	Het
Olfr692	T	A	7: 105,368,545	M73K	probably damaging	Het
Olfr803	T	C	10: 129,691,351	N230S	probably benign	Het
Pask	T	A	1: 93,320,669	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401	N179S	probably null	Het
Prune2	T	C	19: 17,119,886	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098	T729I	probably damaging	Het
Rrp7a	T	C	15: 83,121,870	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136		probably null	Het
Thbs1	A	G	2: 118,119,356	N604S	probably damaging	Het
Togaram1	T	C	12: 65,008,680	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203	E569K	not run	Het
Zzef1	T	A	11: 72,886,690	D1782E	probably damaging	Het

Other mutations in Ikbkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Ikbkb	APN	8	22706111	missense	probably damaging	0.99
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
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
R8934:Ikbkb	UTSW	8	22660391	makesense	probably null
R9249:Ikbkb	UTSW	8	22681719	nonsense	probably null
R9352:Ikbkb	UTSW	8	22660428	missense	probably benign
R9367:Ikbkb	UTSW	8	22681695	missense	probably damaging	1.00
R9524:Ikbkb	UTSW	8	22682724	critical splice donor site	probably null
R9581:Ikbkb	UTSW	8	22665559	missense	probably damaging	0.99
R9588:Ikbkb	UTSW	8	22661394	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGCAATTTATCTGAGGCTGG -3'
(R):5'- AAGGCTCCATTCCTGTGTC -3'

Sequencing Primer
(F):5'- ACTGAACCATAAGAGGACAA -3'
(R):5'- GTCTTCCCGTCCTTGCAGG -3'

Posted On

2019-06-26