Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Nfkbiz'

366095

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

042406-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55811375-55838899 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 55819024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110102 (fasta)

Gene Model

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

AlphaFold

Q9EST8

Predicted Effect

probably null
Transcript: ENSMUST00000036273

SMART Domains

Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356

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 null
Transcript: ENSMUST00000096026

SMART Domains

Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356

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 null
Transcript: ENSMUST00000114457

SMART Domains

Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356

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 null
Transcript: ENSMUST00000114458

SMART Domains

Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	probably benign	Het

Other mutations in Nfkbiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nfkbiz	APN	16	55817909	missense	probably benign
IGL01324:Nfkbiz	APN	16	55815804	missense	probably damaging	1.00
IGL02086:Nfkbiz	APN	16	55815671	missense	probably damaging	1.00
IGL02627:Nfkbiz	APN	16	55816351	missense	probably damaging	1.00
IGL02740:Nfkbiz	APN	16	55817954	missense	probably benign
R0349:Nfkbiz	UTSW	16	55818991	critical splice donor site	probably null
R0539:Nfkbiz	UTSW	16	55817879	missense	probably benign	0.08
R0827:Nfkbiz	UTSW	16	55816367	missense	probably damaging	1.00
R1403:Nfkbiz	UTSW	16	55816470	splice site	probably benign
R1743:Nfkbiz	UTSW	16	55816394	missense	possibly damaging	0.82
R2090:Nfkbiz	UTSW	16	55816455	missense	probably benign	0.01
R2163:Nfkbiz	UTSW	16	55818218	missense	probably benign	0.00
R3195:Nfkbiz	UTSW	16	55819628	missense	probably damaging	1.00
R3974:Nfkbiz	UTSW	16	55818436	missense	probably benign	0.42
R4513:Nfkbiz	UTSW	16	55816841	missense	probably benign	0.20
R4864:Nfkbiz	UTSW	16	55818424	missense	probably damaging	1.00
R5134:Nfkbiz	UTSW	16	55818500	missense	probably damaging	1.00
R5265:Nfkbiz	UTSW	16	55819641	missense	probably damaging	1.00
R5510:Nfkbiz	UTSW	16	55814020	missense	probably damaging	1.00
R6327:Nfkbiz	UTSW	16	55821962	missense	probably damaging	1.00
R7083:Nfkbiz	UTSW	16	55818300	missense	possibly damaging	0.88
R7369:Nfkbiz	UTSW	16	55821846	missense	probably damaging	1.00
R7650:Nfkbiz	UTSW	16	55817839	missense	probably benign	0.34
R7941:Nfkbiz	UTSW	16	55821944	missense	probably damaging	0.98
R8193:Nfkbiz	UTSW	16	55821851	missense	probably damaging	0.96
R8402:Nfkbiz	UTSW	16	55816387	missense	probably damaging	0.98
R9222:Nfkbiz	UTSW	16	55813984	missense	probably damaging	1.00
R9420:Nfkbiz	UTSW	16	55821974	missense	probably damaging	0.99
R9457:Nfkbiz	UTSW	16	55813984	missense	probably damaging	1.00
Z1088:Nfkbiz	UTSW	16	55816438	missense	probably damaging	1.00
Z1088:Nfkbiz	UTSW	16	55818236	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCAAAGAAAGAAGGCGC -3'
(R):5'- ATTCCGTGGGTTCAGTACACAG -3'

Sequencing Primer
(F):5'- AGAAGGCGCGATCTGTCATCATC -3'
(R):5'- GGGTTCAGTACACAGAGAACATTTTG -3'

Posted On

2015-12-21