Mutagenetix > Incidental Mutation

Incidental Mutation 'R7819:Ikbkb'

601749

Institutional Source

Beutler Lab

Gene Symbol

Ikbkb

Ensembl Gene

ENSMUSG00000031537

Gene Name

inhibitor of kappaB kinase beta

Synonyms

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

MMRRC Submission

045873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23149228-23196605 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23161742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 382 (L382S)

Ref Sequence

ENSEMBL: ENSMUSP00000064235 (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: L382S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: L382S

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: L382S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: L382S

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
AA Change: L382S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: L382S

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
AA Change: L382S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: L382S

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: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,156,254 (GRCm39)		probably benign	Het
Abcg3	T	C	5: 105,125,594 (GRCm39)	T30A	probably benign	Het
Adra1b	A	T	11: 43,726,194 (GRCm39)	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,595,880 (GRCm39)	N170K	probably benign	Het
Ahr	A	G	12: 35,559,999 (GRCm39)	L218P	probably damaging	Het
Apol8	C	T	15: 77,633,959 (GRCm39)	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,665,263 (GRCm39)		probably null	Het
B3galnt1	T	C	3: 69,483,108 (GRCm39)	Y51C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Capn3	T	C	2: 120,294,646 (GRCm39)	V98A	probably benign	Het
Casp12	T	C	9: 5,352,805 (GRCm39)	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,643,329 (GRCm39)	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,052,260 (GRCm39)	S301P	probably damaging	Het
Cep89	A	T	7: 35,131,968 (GRCm39)	H634L	probably benign	Het
Cert1	A	T	13: 96,765,575 (GRCm39)	T447S	possibly damaging	Het
Cfap251	A	G	5: 123,392,322 (GRCm39)		probably benign	Het
Chmp3	T	A	6: 71,538,008 (GRCm39)	Y12*	probably null	Het
Clgn	A	T	8: 84,134,829 (GRCm39)	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Crb2	T	A	2: 37,681,603 (GRCm39)	N815K	probably benign	Het
Crppa	A	G	12: 36,431,902 (GRCm39)	T44A	probably benign	Het
Csgalnact2	A	C	6: 118,098,050 (GRCm39)	L97V	possibly damaging	Het
Ctsh	T	A	9: 89,942,556 (GRCm39)	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,058,718 (GRCm39)	E394G	probably damaging	Het
Ddx31	T	G	2: 28,782,463 (GRCm39)	L602R	probably damaging	Het
Defb40	T	A	8: 19,025,050 (GRCm39)	Y52F	probably benign	Het
Dip2a	A	G	10: 76,126,862 (GRCm39)	V710A	probably benign	Het
Dnah2	T	C	11: 69,407,419 (GRCm39)	I150V	probably benign	Het
Eln	A	T	5: 134,766,035 (GRCm39)	L56Q	unknown	Het
Ezh1	T	C	11: 101,085,740 (GRCm39)	N639S	probably damaging	Het
Fzd3	A	G	14: 65,472,775 (GRCm39)	F331S	probably damaging	Het
Gbp9	T	C	5: 105,251,745 (GRCm39)	T68A	possibly damaging	Het
Gltp	A	G	5: 114,812,161 (GRCm39)	M104T	probably benign	Het
Gmps	G	A	3: 63,893,048 (GRCm39)	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,229,705 (GRCm39)	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,675,418 (GRCm39)	H373L	probably benign	Het
Ica1l	A	T	1: 60,054,953 (GRCm39)	F93I	possibly damaging	Het
Idh1	A	G	1: 65,204,277 (GRCm39)	S278P	probably damaging	Het
Ighmbp2	C	T	19: 3,317,276 (GRCm39)	G532D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Ing2	G	A	8: 48,122,063 (GRCm39)	R162C	probably damaging	Het
Ints1	A	T	5: 139,746,522 (GRCm39)	L1275H	probably damaging	Het
Itga1	T	C	13: 115,185,837 (GRCm39)	E55G	probably damaging	Het
Itih4	T	C	14: 30,623,620 (GRCm39)	F930L	probably benign	Het
Kcnh8	A	G	17: 53,263,743 (GRCm39)	T747A	probably benign	Het
Kit	A	G	5: 75,806,592 (GRCm39)	E699G	probably benign	Het
Lamc3	T	C	2: 31,811,775 (GRCm39)	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,362,661 (GRCm39)		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 126,397,260 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,265,300 (GRCm39)	E76G	probably damaging	Het
Mgat3	G	T	15: 80,095,973 (GRCm39)	E267*	probably null	Het
Nhsl3	A	G	4: 129,116,276 (GRCm39)	V841A	probably benign	Het
Npepps	C	A	11: 97,139,095 (GRCm39)	G159V	probably damaging	Het
Nrap	A	G	19: 56,323,720 (GRCm39)	V1284A	probably benign	Het
Or10a3	T	A	7: 108,480,610 (GRCm39)	I68F	probably damaging	Het
Or6c66b	A	T	10: 129,376,562 (GRCm39)	H52L	probably benign	Het
Oxgr1	T	C	14: 120,260,281 (GRCm39)		probably null	Het
Pcdhb18	T	C	18: 37,624,308 (GRCm39)	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,829,633 (GRCm39)	V694M	probably damaging	Het
Pde9a	A	T	17: 31,679,174 (GRCm39)	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,079,013 (GRCm39)	G25R	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppp1r37	A	G	7: 19,267,989 (GRCm39)	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,622,744 (GRCm39)	Y311N	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prmt9	T	C	8: 78,294,973 (GRCm39)	V439A	probably benign	Het
Ptpra	T	C	2: 130,346,126 (GRCm39)	S96P	probably benign	Het
Rnf103	A	G	6: 71,485,914 (GRCm39)	T182A	probably benign	Het
Rpusd4	A	G	9: 35,179,228 (GRCm39)	S15G	probably benign	Het
Sco1	A	G	11: 66,949,219 (GRCm39)	Y229C	probably damaging	Het
Skint5	T	A	4: 113,417,032 (GRCm39)	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,652,579 (GRCm39)	V189A	probably damaging	Het
Slfn8	T	G	11: 82,895,081 (GRCm39)	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stard9	T	C	2: 120,531,465 (GRCm39)	L2574P	probably damaging	Het
Syn3	A	T	10: 85,891,404 (GRCm39)		probably benign	Het
Tspo2	A	T	17: 48,756,985 (GRCm39)	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,403,552 (GRCm39)	F299L	probably benign	Het
Xbp1	G	A	11: 5,474,886 (GRCm39)	M262I	probably benign	Het
Zfp354b	G	A	11: 50,814,632 (GRCm39)	Q98*	probably null	Het
Zfp582	A	C	7: 6,357,165 (GRCm39)	H326P	probably damaging	Het

Other mutations in Ikbkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Ikbkb	APN	8	23,196,127 (GRCm39)	missense	probably damaging	0.99
IGL00899:Ikbkb	APN	8	23,150,463 (GRCm39)	missense	possibly damaging	0.84
IGL02271:Ikbkb	APN	8	23,155,919 (GRCm39)	missense	probably benign	0.00
IGL02569:Ikbkb	APN	8	23,183,899 (GRCm39)	missense	probably damaging	1.00
IGL02610:Ikbkb	APN	8	23,165,088 (GRCm39)	critical splice acceptor site	probably null
IGL03085:Ikbkb	APN	8	23,172,802 (GRCm39)	missense	probably benign	0.03
Baby	UTSW	8	23,165,052 (GRCm39)	missense	probably damaging	1.00
Impaired	UTSW	8	23,156,036 (GRCm39)	missense	probably damaging	1.00
Kiki	UTSW	8	23,161,658 (GRCm39)	missense	possibly damaging	0.95
R0110:Ikbkb	UTSW	8	23,161,651 (GRCm39)	nonsense	probably null
R0366:Ikbkb	UTSW	8	23,185,276 (GRCm39)	splice site	probably benign
R0469:Ikbkb	UTSW	8	23,161,651 (GRCm39)	nonsense	probably null
R0510:Ikbkb	UTSW	8	23,161,651 (GRCm39)	nonsense	probably null
R1386:Ikbkb	UTSW	8	23,155,633 (GRCm39)	missense	possibly damaging	0.69
R1436:Ikbkb	UTSW	8	23,163,419 (GRCm39)	missense	probably benign	0.24
R1645:Ikbkb	UTSW	8	23,181,082 (GRCm39)	missense	probably damaging	0.98
R1695:Ikbkb	UTSW	8	23,163,496 (GRCm39)	missense	probably benign	0.00
R2118:Ikbkb	UTSW	8	23,157,233 (GRCm39)	splice site	probably benign
R2120:Ikbkb	UTSW	8	23,157,233 (GRCm39)	splice site	probably benign
R2121:Ikbkb	UTSW	8	23,157,233 (GRCm39)	splice site	probably benign
R2124:Ikbkb	UTSW	8	23,157,233 (GRCm39)	splice site	probably benign
R2124:Ikbkb	UTSW	8	23,156,036 (GRCm39)	missense	probably damaging	1.00
R2148:Ikbkb	UTSW	8	23,172,761 (GRCm39)	missense	probably damaging	1.00
R2179:Ikbkb	UTSW	8	23,171,769 (GRCm39)	critical splice acceptor site	probably null
R2897:Ikbkb	UTSW	8	23,159,693 (GRCm39)	missense	possibly damaging	0.71
R3861:Ikbkb	UTSW	8	23,168,852 (GRCm39)	missense	possibly damaging	0.94
R4019:Ikbkb	UTSW	8	23,161,728 (GRCm39)	missense	probably benign	0.03
R4723:Ikbkb	UTSW	8	23,159,623 (GRCm39)	missense	probably benign	0.24
R4962:Ikbkb	UTSW	8	23,171,693 (GRCm39)	missense	probably damaging	1.00
R5715:Ikbkb	UTSW	8	23,168,866 (GRCm39)	missense	probably damaging	1.00
R6738:Ikbkb	UTSW	8	23,165,052 (GRCm39)	missense	probably damaging	1.00
R6875:Ikbkb	UTSW	8	23,155,909 (GRCm39)	missense	probably damaging	0.99
R7054:Ikbkb	UTSW	8	23,161,658 (GRCm39)	missense	possibly damaging	0.95
R7284:Ikbkb	UTSW	8	23,158,976 (GRCm39)	missense	probably benign	0.32
R7383:Ikbkb	UTSW	8	23,159,066 (GRCm39)	missense	probably benign
R7633:Ikbkb	UTSW	8	23,161,757 (GRCm39)	missense	probably benign	0.08
R7768:Ikbkb	UTSW	8	23,185,252 (GRCm39)	missense	probably damaging	0.99
R8332:Ikbkb	UTSW	8	23,155,641 (GRCm39)	missense	possibly damaging	0.79
R8369:Ikbkb	UTSW	8	23,181,097 (GRCm39)	missense	probably benign	0.32
R8421:Ikbkb	UTSW	8	23,168,804 (GRCm39)	critical splice donor site	probably null
R8934:Ikbkb	UTSW	8	23,150,407 (GRCm39)	makesense	probably null
R9249:Ikbkb	UTSW	8	23,171,735 (GRCm39)	nonsense	probably null
R9352:Ikbkb	UTSW	8	23,150,444 (GRCm39)	missense	probably benign
R9367:Ikbkb	UTSW	8	23,171,711 (GRCm39)	missense	probably damaging	1.00
R9524:Ikbkb	UTSW	8	23,172,740 (GRCm39)	critical splice donor site	probably null
R9581:Ikbkb	UTSW	8	23,155,575 (GRCm39)	missense	probably damaging	0.99
R9588:Ikbkb	UTSW	8	23,151,410 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACATTCCAAGTAAAGGAGGC -3'
(R):5'- TGTTCAGGTCACAGGAGAAGC -3'

Sequencing Primer
(F):5'- AGGAGGCTTTATATACTCAGAACC -3'
(R):5'- TGTAAGGCAGGGGCAGGTTC -3'

Posted On

2019-12-03