Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Ikbkb'

598386

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

045824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23149228-23196605 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23185252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 43 (I43F)

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 damaging
Transcript: ENSMUST00000033939
AA Change: I43F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: I43F

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 damaging
Transcript: ENSMUST00000063401
AA Change: I43F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: I43F

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: I43F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: I43F

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: ENSMUST00000131767

SMART Domains

Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537

Domain	Start	End	E-Value	Type
Pfam:Pkinase	7	100	5.5e-16	PFAM
Pfam:Pkinase_Tyr	11	100	1.4e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135326
AA Change: I43F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: I43F

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: 100.0%
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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Gusb	A	T	5: 130,029,246 (GRCm39)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,440,239 (GRCm39)	H380R	possibly damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,181,514 (GRCm39)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rspry1	C	A	8: 95,356,469 (GRCm39)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc2a1	A	G	4: 118,989,644 (GRCm39)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	possibly 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
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'- GTGCTGACAGAAGACACTGC -3'
(R):5'- CCCTCGATGGATAGATGCAG -3'

Sequencing Primer
(F):5'- AGACACTGCGGGGCTCTTTTC -3'
(R):5'- ATGGGCAAACTGTGATGTGG -3'

Posted On

2019-11-26