Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Ikbkb'

43135

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

038669-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0469 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

23149228-23196605 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 23161651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 412 (C412*)

Ref Sequence

ENSEMBL: ENSMUSP00000138378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000033939
AA Change: C412*

SMART Domains

Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: C412*

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 null
Transcript: ENSMUST00000063401
AA Change: C412*

SMART Domains

Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: C412*

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 null
Transcript: ENSMUST00000125314
AA Change: C412*

SMART Domains

Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: C412*

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: ENSMUST00000126496

Predicted Effect

probably null
Transcript: ENSMUST00000135326
AA Change: C412*

SMART Domains

Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: C412*

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: ENSMUST00000146212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150259

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or1j10	A	T	2: 36,267,474 (GRCm39)	I229F	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	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
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
R7819:Ikbkb	UTSW	8	23,161,742 (GRCm39)	missense	probably benign	0.05
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'- AACCCTGTGCCTACCTCTAGTGAG -3'
(R):5'- ATGTGTGACATGGTGTCTGCCC -3'

Sequencing Primer
(F):5'- CCTCTAGTGAGAGGCAGTTAACC -3'
(R):5'- TGCTTTAAGACCAAGTAGCCG -3'

Posted On

2013-05-23