Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Ikbkg'

296108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ikbkg

Ensembl Gene

ENSMUSG00000004221

Gene Name

inhibitor of kappaB kinase gamma

Synonyms

IKK[g], 1110037D23Rik, NEMO

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

73436896-73497460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73487433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 334 (V334E)

Ref Sequence

ENSEMBL: ENSMUSP00000004330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004330] [ENSMUST00000064407] [ENSMUST00000114127] [ENSMUST00000114128] [ENSMUST00000114129] [ENSMUST00000114130] [ENSMUST00000114133] [ENSMUST00000164101] [ENSMUST00000180230] [ENSMUST00000156707] [ENSMUST00000130802] [ENSMUST00000135165] [ENSMUST00000149525]

AlphaFold

O88522

Predicted Effect

probably benign
Transcript: ENSMUST00000004330
AA Change: V334E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000004330
Gene: ENSMUSG00000004221
AA Change: V334E

Domain	Start	End	E-Value	Type
Pfam:NEMO	62	129	1.5e-30	PFAM
low complexity region	135	152	N/A	INTRINSIC
PDB:3CL3\|E	164	266	5e-51	PDB
low complexity region	270	291	N/A	INTRINSIC
PDB:3JSV\|D	292	361	3e-25	PDB
low complexity region	377	393	N/A	INTRINSIC
PDB:2JVX\|A	405	430	5e-12	PDB
Blast:ZnF_C2H2	406	426	5e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000064407
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064017
Gene: ENSMUSG00000004221
AA Change: V315E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	6.2e-31	PFAM
PDB:3CL3\|E	145	247	4e-51	PDB
low complexity region	251	272	N/A	INTRINSIC
PDB:3JSV\|D	273	342	3e-25	PDB
low complexity region	358	374	N/A	INTRINSIC
PDB:2JVX\|A	386	411	3e-12	PDB
Blast:ZnF_C2H2	387	407	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114127
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109762
Gene: ENSMUSG00000004221
AA Change: V316E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	248	3e-51	PDB
low complexity region	252	273	N/A	INTRINSIC
PDB:3JSV\|D	274	343	3e-25	PDB
low complexity region	359	375	N/A	INTRINSIC
PDB:2JVX\|A	387	412	3e-12	PDB
Blast:ZnF_C2H2	388	408	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114128
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109763
Gene: ENSMUSG00000004221
AA Change: V316E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	248	3e-51	PDB
low complexity region	252	273	N/A	INTRINSIC
PDB:3JSV\|D	274	343	3e-25	PDB
low complexity region	359	375	N/A	INTRINSIC
PDB:2JVX\|A	387	412	3e-12	PDB
Blast:ZnF_C2H2	388	408	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114129
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109764
Gene: ENSMUSG00000004221
AA Change: V315E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	6.2e-31	PFAM
PDB:3CL3\|E	145	247	4e-51	PDB
low complexity region	251	272	N/A	INTRINSIC
PDB:3JSV\|D	273	342	3e-25	PDB
low complexity region	358	374	N/A	INTRINSIC
PDB:2JVX\|A	386	411	3e-12	PDB
Blast:ZnF_C2H2	387	407	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114130
AA Change: V328E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109765
Gene: ENSMUSG00000004221
AA Change: V328E

Domain	Start	End	E-Value	Type
Pfam:NEMO	56	123	2.6e-31	PFAM
low complexity region	129	146	N/A	INTRINSIC
PDB:3CL3\|E	158	260	5e-51	PDB
low complexity region	264	285	N/A	INTRINSIC
PDB:3JSV\|D	286	355	3e-25	PDB
low complexity region	371	387	N/A	INTRINSIC
PDB:2JVX\|A	399	424	4e-12	PDB
Blast:ZnF_C2H2	400	420	5e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114133
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109768
Gene: ENSMUSG00000004221
AA Change: V316E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	248	3e-51	PDB
low complexity region	252	273	N/A	INTRINSIC
PDB:3JSV\|D	274	343	3e-25	PDB
low complexity region	359	375	N/A	INTRINSIC
PDB:2JVX\|A	387	412	3e-12	PDB
Blast:ZnF_C2H2	388	408	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164101
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126770
Gene: ENSMUSG00000004221
AA Change: V316E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	248	3e-51	PDB
low complexity region	252	273	N/A	INTRINSIC
PDB:3JSV\|D	274	343	3e-25	PDB
low complexity region	359	375	N/A	INTRINSIC
PDB:2JVX\|A	387	412	3e-12	PDB
Blast:ZnF_C2H2	388	408	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000180230
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136573
Gene: ENSMUSG00000004221
AA Change: V315E

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	6.2e-31	PFAM
PDB:3CL3\|E	145	247	4e-51	PDB
low complexity region	251	272	N/A	INTRINSIC
PDB:3JSV\|D	273	342	3e-25	PDB
low complexity region	358	374	N/A	INTRINSIC
PDB:2JVX\|A	386	411	3e-12	PDB
Blast:ZnF_C2H2	387	407	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156707
AA Change: V182E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116230
Gene: ENSMUSG00000004221
AA Change: V182E

Domain	Start	End	E-Value	Type
PDB:3CL3\|E	12	114	2e-54	PDB
low complexity region	118	139	N/A	INTRINSIC
PDB:2ZVN\|H	140	190	2e-28	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143784

Predicted Effect

probably benign
Transcript: ENSMUST00000130802

SMART Domains

Protein: ENSMUSP00000116875
Gene: ENSMUSG00000004221

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	228	3e-38	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000135165

SMART Domains

Protein: ENSMUSP00000116615
Gene: ENSMUSG00000004221

Domain	Start	End	E-Value	Type
Pfam:NEMO	44	111	5.9e-31	PFAM
low complexity region	117	134	N/A	INTRINSIC
PDB:3CL3\|E	146	248	7e-53	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000149525

SMART Domains

Protein: ENSMUSP00000120080
Gene: ENSMUSG00000004221

Domain	Start	End	E-Value	Type
Pfam:NEMO	56	123	6.6e-31	PFAM
low complexity region	129	146	N/A	INTRINSIC
PDB:3CL3\|E	158	265	2e-53	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
PHENOTYPE: Males hemizygous for targeted null mutations exhibit embryonic lethality by embryonic day 13.5 from apoptotic liver damage. Heterozygous females show patchy skin lesions with granulocyte infiltration, growth retardation, and shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		probably benign	Het

Other mutations in Ikbkg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Ikbkg	APN	X	73,476,466 (GRCm39)	missense	probably damaging	1.00
panr2	UTSW	X	73,480,828 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16