Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Nfkbiz'

78349

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

039007-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R0827 (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 55636730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 524 (R524G)

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: R524G

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

SMART Domains

Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: R524G

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: R425G

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

SMART Domains

Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: R425G

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: R425G

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

SMART Domains

Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: R425G

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: R524G

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

SMART Domains

Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: R524G

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

0.8480

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAACTGATTGCTCCTCACAGCTCC -3'
(R):5'- CTCCAGTGCAGACTGTTTAAGAGCC -3'

Sequencing Primer
(F):5'- ACGCCTGTTATCCAAAGGTGG -3'
(R):5'- TTGCGTATAATTAAGCCGCACC -3'

Posted On

2013-10-16