Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Nfkbiz'

305879

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfkbiz

Ensembl Gene

ENSMUSG00000035356

Gene Name

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta

Synonyms

Mail

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

55631740-55659018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55638317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 381 (T381N)

Ref Sequence

ENSEMBL: ENSMUSP00000110102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036273] [ENSMUST00000096026] [ENSMUST00000114457] [ENSMUST00000114458]

AlphaFold

Q9EST8

Predicted Effect

probably benign
Transcript: ENSMUST00000036273
AA Change: T381N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: T381N

Domain	Start	End	E-Value	Type
low complexity region	53	83	N/A	INTRINSIC
low complexity region	289	315	N/A	INTRINSIC
ANK	453	482	1.29e2	SMART
ANK	489	518	4.93e0	SMART
ANK	522	551	1.63e0	SMART
ANK	561	591	7.89e1	SMART
ANK	622	651	1.17e-1	SMART
ANK	658	691	2.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096026
AA Change: T282N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: T282N

Domain	Start	End	E-Value	Type
low complexity region	190	216	N/A	INTRINSIC
ANK	354	383	1.29e2	SMART
ANK	390	419	4.93e0	SMART
ANK	423	452	1.63e0	SMART
ANK	462	492	7.89e1	SMART
ANK	523	552	1.17e-1	SMART
ANK	559	592	2.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114457
AA Change: T282N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: T282N

Domain	Start	End	E-Value	Type
low complexity region	190	216	N/A	INTRINSIC
ANK	354	383	1.29e2	SMART
ANK	390	419	4.93e0	SMART
ANK	423	452	1.63e0	SMART
ANK	462	492	7.89e1	SMART
ANK	523	552	1.17e-1	SMART
ANK	559	592	2.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114458
AA Change: T381N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: T381N

Domain	Start	End	E-Value	Type
low complexity region	53	83	N/A	INTRINSIC
low complexity region	289	315	N/A	INTRINSIC
ANK	453	482	1.29e2	SMART
ANK	489	518	4.93e0	SMART
ANK	522	551	1.63e0	SMART
ANK	561	591	7.89e1	SMART
ANK	622	651	1.17e-1	SMART
ANK	658	691	2.92e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231463

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 is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly damaging	Het

Other mutations in Nfkbiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nfkbiz	APN	16	55,638,272 (GRCm39)	missense	probably benign
IGL01324:Nfkbiz	APN	16	55,636,167 (GRCm39)	missense	probably damaging	1.00
IGL02086:Nfkbiz	APN	16	55,636,034 (GRCm39)	missense	probably damaging	1.00
IGL02627:Nfkbiz	APN	16	55,636,714 (GRCm39)	missense	probably damaging	1.00
R0349:Nfkbiz	UTSW	16	55,639,354 (GRCm39)	critical splice donor site	probably null
R0539:Nfkbiz	UTSW	16	55,638,242 (GRCm39)	missense	probably benign	0.08
R0827:Nfkbiz	UTSW	16	55,636,730 (GRCm39)	missense	probably damaging	1.00
R1403:Nfkbiz	UTSW	16	55,636,833 (GRCm39)	splice site	probably benign
R1743:Nfkbiz	UTSW	16	55,636,757 (GRCm39)	missense	possibly damaging	0.82
R2090:Nfkbiz	UTSW	16	55,636,818 (GRCm39)	missense	probably benign	0.01
R2163:Nfkbiz	UTSW	16	55,638,581 (GRCm39)	missense	probably benign	0.00
R3195:Nfkbiz	UTSW	16	55,639,991 (GRCm39)	missense	probably damaging	1.00
R3974:Nfkbiz	UTSW	16	55,638,799 (GRCm39)	missense	probably benign	0.42
R4513:Nfkbiz	UTSW	16	55,637,204 (GRCm39)	missense	probably benign	0.20
R4765:Nfkbiz	UTSW	16	55,639,387 (GRCm39)	critical splice acceptor site	probably null
R4864:Nfkbiz	UTSW	16	55,638,787 (GRCm39)	missense	probably damaging	1.00
R5134:Nfkbiz	UTSW	16	55,638,863 (GRCm39)	missense	probably damaging	1.00
R5265:Nfkbiz	UTSW	16	55,640,004 (GRCm39)	missense	probably damaging	1.00
R5510:Nfkbiz	UTSW	16	55,634,383 (GRCm39)	missense	probably damaging	1.00
R6327:Nfkbiz	UTSW	16	55,642,325 (GRCm39)	missense	probably damaging	1.00
R7083:Nfkbiz	UTSW	16	55,638,663 (GRCm39)	missense	possibly damaging	0.88
R7369:Nfkbiz	UTSW	16	55,642,209 (GRCm39)	missense	probably damaging	1.00
R7650:Nfkbiz	UTSW	16	55,638,202 (GRCm39)	missense	probably benign	0.34
R7941:Nfkbiz	UTSW	16	55,642,307 (GRCm39)	missense	probably damaging	0.98
R8193:Nfkbiz	UTSW	16	55,642,214 (GRCm39)	missense	probably damaging	0.96
R8402:Nfkbiz	UTSW	16	55,636,750 (GRCm39)	missense	probably damaging	0.98
R9222:Nfkbiz	UTSW	16	55,634,347 (GRCm39)	missense	probably damaging	1.00
R9420:Nfkbiz	UTSW	16	55,642,337 (GRCm39)	missense	probably damaging	0.99
R9457:Nfkbiz	UTSW	16	55,634,347 (GRCm39)	missense	probably damaging	1.00
Z1088:Nfkbiz	UTSW	16	55,638,599 (GRCm39)	missense	probably damaging	1.00
Z1088:Nfkbiz	UTSW	16	55,636,801 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16