Mutagenetix > Incidental Mutation

Incidental Mutation 'R9188:Nfkbia'

697544

Institutional Source

Beutler Lab

Gene Symbol

Nfkbia

Ensembl Gene

ENSMUSG00000021025

Gene Name

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

Synonyms

Nfkbi, I(Kappa)B(alpha), I-kappaBalpha, IkappaBalpha

MMRRC Submission

068980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55536195-55539432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55537258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 277 (L277H)

Ref Sequence

ENSEMBL: ENSMUSP00000021413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021413]

AlphaFold

Q9Z1E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021413
AA Change: L277H

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

SMART Domains

Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: L277H

Domain	Start	End	E-Value	Type
ANK	73	103	1.39e3	SMART
ANK	110	139	5.93e-3	SMART
ANK	143	172	3.04e0	SMART
ANK	182	211	4.39e-6	SMART
ANK	216	245	9.41e-6	SMART
low complexity region	282	299	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells. [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
1700003E16Rik	G	T	6: 83,139,230 (GRCm39)	R385L	probably benign	Het
Abca8b	A	T	11: 109,872,561 (GRCm39)	C13*	probably null	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Adamts1	G	A	16: 85,599,571 (GRCm39)	R10C	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arhgap23	A	G	11: 97,390,983 (GRCm39)	I4V	possibly damaging	Het
Asic2	A	G	11: 81,042,738 (GRCm39)	F185S	probably benign	Het
Asmt	G	A	X: 169,111,583 (GRCm39)	E322K	probably damaging	Het
Caprin2	T	C	6: 148,767,422 (GRCm39)	D512G	probably benign	Het
Cltc	A	C	11: 86,627,992 (GRCm39)	I52S	probably damaging	Het
Cntn2	A	G	1: 132,443,276 (GRCm39)	L1040P	probably damaging	Het
Col12a1	T	C	9: 79,509,614 (GRCm39)	T3019A	probably benign	Het
Crisp4	A	T	1: 18,192,990 (GRCm39)	C242*	probably null	Het
Crocc	G	T	4: 140,747,151 (GRCm39)	N1716K	probably benign	Het
Cstf3	A	G	2: 104,439,223 (GRCm39)	E12G	possibly damaging	Het
Dnai4	T	C	4: 102,939,332 (GRCm39)	T77A		Het
Drc3	G	T	11: 60,249,615 (GRCm39)	V45F	probably damaging	Het
Etv4	A	G	11: 101,666,202 (GRCm39)	S108P	probably damaging	Het
Exosc10	T	A	4: 148,643,017 (GRCm39)	D31E	probably damaging	Het
F11	A	T	8: 45,698,736 (GRCm39)	D469E	probably benign	Het
Fzd7	A	G	1: 59,523,797 (GRCm39)	H560R	probably benign	Het
Gabrp	A	G	11: 33,517,252 (GRCm39)	I140T	possibly damaging	Het
Get1	A	G	16: 95,955,363 (GRCm39)	D140G	probably benign	Het
Gna15	T	C	10: 81,343,798 (GRCm39)	T288A	probably benign	Het
Gucy2c	T	C	6: 136,700,756 (GRCm39)	D586G	probably benign	Het
H2-D1	T	C	17: 35,484,778 (GRCm39)	V213A	probably damaging	Het
Hsd3b1	A	T	3: 98,760,216 (GRCm39)	D258E	probably damaging	Het
Ier3	G	T	17: 36,132,779 (GRCm39)	G57W	probably damaging	Het
Ifnlr1	T	A	4: 135,426,171 (GRCm39)	C85S	probably damaging	Het
Ivd	G	T	2: 118,710,942 (GRCm39)	G384C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Jak2	A	C	19: 29,288,353 (GRCm39)	D1068A	probably damaging	Het
Klk4	T	C	7: 43,534,797 (GRCm39)	I252T	probably damaging	Het
Klra17	A	T	6: 129,808,523 (GRCm39)	C237S	probably damaging	Het
Krtap1-3	T	C	11: 99,481,887 (GRCm39)	T87A	unknown	Het
Lbhd1	A	T	19: 8,864,397 (GRCm39)		probably null	Het
Lrig3	A	G	10: 125,838,935 (GRCm39)	R481G	possibly damaging	Het
Lrrc1	T	C	9: 77,362,487 (GRCm39)	Y247C	probably benign	Het
Marchf1	T	A	8: 66,908,803 (GRCm39)	Y174*	probably null	Het
Mlxip	A	T	5: 123,583,642 (GRCm39)	T402S	probably benign	Het
Mmd2	T	C	5: 142,560,957 (GRCm39)	K93E	probably damaging	Het
Mmp27	A	G	9: 7,579,792 (GRCm39)	D422G	possibly damaging	Het
Mroh7	T	C	4: 106,566,789 (GRCm39)	I487V	probably benign	Het
Nectin2	A	G	7: 19,453,119 (GRCm39)		probably null	Het
Or4n5	T	C	14: 50,132,366 (GRCm39)	M298V	probably benign	Het
Or52r1	T	A	7: 102,536,596 (GRCm39)	I255F	possibly damaging	Het
Otof	C	T	5: 30,534,095 (GRCm39)	V1410M	probably damaging	Het
Pcdhb11	A	G	18: 37,556,188 (GRCm39)	N506S	probably damaging	Het
Pik3c2g	A	C	6: 139,599,401 (GRCm39)	E172D	possibly damaging	Het
Plch1	T	C	3: 63,639,075 (GRCm39)	D466G	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Ppm1d	T	A	11: 85,236,747 (GRCm39)	S509T	possibly damaging	Het
Prmt7	A	G	8: 106,961,486 (GRCm39)	D133G	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rfx6	A	G	10: 51,594,263 (GRCm39)	I394M	probably benign	Het
Rgl1	G	T	1: 152,394,922 (GRCm39)	N715K	probably damaging	Het
Rnf212	G	T	5: 108,922,811 (GRCm39)	S13*	probably null	Het
Rpgrip1l	T	C	8: 92,031,638 (GRCm39)	T80A	probably damaging	Het
Rsl1	G	T	13: 67,330,185 (GRCm39)	S211I	probably benign	Het
Serpinb9d	A	G	13: 33,386,843 (GRCm39)	M304V	probably damaging	Het
Sh3rf1	G	T	8: 61,814,807 (GRCm39)		probably null	Het
Snx16	C	A	3: 10,485,835 (GRCm39)	K261N	possibly damaging	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Styxl1	T	C	5: 135,794,672 (GRCm39)		probably null	Het
Tarbp2	A	G	15: 102,430,946 (GRCm39)	D233G	probably benign	Het
Tenm4	A	T	7: 96,421,234 (GRCm39)	N633Y	probably damaging	Het
Tgs1	T	C	4: 3,585,693 (GRCm39)	L190P	probably benign	Het
Tmem87a	C	T	2: 120,233,244 (GRCm39)	G55D	probably benign	Het
Ttn	A	T	2: 76,733,468 (GRCm39)	Y4602*	probably null	Het
Unc5b	A	T	10: 60,609,550 (GRCm39)	L582Q	probably damaging	Het
Wdpcp	A	G	11: 21,610,025 (GRCm39)	D31G	probably damaging	Het
Zbtb32	C	T	7: 30,291,320 (GRCm39)		probably benign	Het
Zfp936	C	T	7: 42,839,768 (GRCm39)	L412F	probably benign	Het

Other mutations in Nfkbia

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Nfkbia	APN	12	55,537,327 (GRCm39)	missense	probably damaging	1.00
IGL01517:Nfkbia	APN	12	55,537,430 (GRCm39)	missense	probably damaging	0.99
IGL02636:Nfkbia	APN	12	55,537,958 (GRCm39)	missense	possibly damaging	0.48
Fulfilling	UTSW	12	55,537,455 (GRCm39)	splice site	probably benign
Promising	UTSW	12	55,539,083 (GRCm39)	critical splice donor site	probably benign
R0836:Nfkbia	UTSW	12	55,537,561 (GRCm39)	missense	probably damaging	1.00
R2031:Nfkbia	UTSW	12	55,537,937 (GRCm39)	missense	probably damaging	1.00
R2393:Nfkbia	UTSW	12	55,537,455 (GRCm39)	splice site	probably benign
R5821:Nfkbia	UTSW	12	55,538,005 (GRCm39)	missense	probably damaging	1.00
R7568:Nfkbia	UTSW	12	55,538,546 (GRCm39)	missense	probably damaging	1.00
R8235:Nfkbia	UTSW	12	55,537,608 (GRCm39)	missense	probably damaging	1.00
R8799:Nfkbia	UTSW	12	55,539,083 (GRCm39)	critical splice donor site	probably benign
R8843:Nfkbia	UTSW	12	55,539,196 (GRCm39)	missense	possibly damaging	0.92
R8921:Nfkbia	UTSW	12	55,537,340 (GRCm39)	missense	probably damaging	1.00
X0061:Nfkbia	UTSW	12	55,537,372 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGGGATCCTGGCTTTGCAAG -3'
(R):5'- GCCGTAAACTAACGCCTGATTG -3'

Sequencing Primer
(F):5'- CTTTGCAAGCCGAGTCTGAG -3'
(R):5'- AACTAACGCCTGATTGCTTTTGG -3'

Posted On

2022-02-07