Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Nfkbiz'

431184

Institutional Source

Beutler Lab

Gene Symbol

Nfkbiz

Ensembl Gene

ENSMUSG00000035356

Gene Name

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

Synonyms

Mail

MMRRC Submission

043071-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55631740-55659018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55634383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 688 (D688G)

Ref Sequence

ENSEMBL: ENSMUSP00000110102 (fasta)

Gene Model

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

AlphaFold

Q9EST8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036273
AA Change: D688G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: D688G

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 damaging
Transcript: ENSMUST00000096026
AA Change: D589G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: D589G

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 damaging
Transcript: ENSMUST00000114457
AA Change: D589G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: D589G

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 damaging
Transcript: ENSMUST00000114458
AA Change: D688G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: D688G

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

Meta Mutation Damage Score

0.8289

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,779,693 (GRCm39)	V392A	probably benign	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113 (GRCm39)	L535P	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 32,165,721 (GRCm39)	R134C	unknown	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Prss55	T	A	14: 64,314,574 (GRCm39)	M199L	probably damaging	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	probably 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
IGL02740:Nfkbiz	APN	16	55,638,317 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TACACTGACGAGCCTACCTG -3'
(R):5'- CAAGGTAATTTTCAGAACCTCAGTG -3'

Sequencing Primer
(F):5'- GAGCCTACCTGCAGAGCATCAG -3'
(R):5'- AGAACCTCAGTGCTGCCAG -3'

Posted On

2016-10-05