Mutagenetix > Incidental Mutation

Incidental Mutation 'R8843:Nfkbia'

674550

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

068670-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55536195-55539432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55539196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 39 (D39A)

Ref Sequence

ENSEMBL: ENSMUSP00000021413 (fasta)

Gene Model

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

AlphaFold

Q9Z1E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021413
AA Change: D39A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: D39A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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
AB124611	C	G	9: 21,440,331 (GRCm39)	Q106E	probably benign	Het
Abi2	A	G	1: 60,492,888 (GRCm39)	M387V	probably null	Het
Adra2c	A	T	5: 35,437,707 (GRCm39)	N160Y	probably damaging	Het
Ager	G	A	17: 34,819,716 (GRCm39)	R383H	probably benign	Het
Arhgef28	C	T	13: 98,130,557 (GRCm39)	R427H	probably benign	Het
Atl1	T	A	12: 69,972,922 (GRCm39)	S81T	probably damaging	Het
Ccdc80	T	A	16: 44,947,470 (GRCm39)		probably benign	Het
Cdh10	T	A	15: 19,013,487 (GRCm39)	F696I	possibly damaging	Het
Cdk2ap2	T	C	19: 4,147,429 (GRCm39)	S2P	unknown	Het
Cela1	G	A	15: 100,580,821 (GRCm39)	T145I	probably benign	Het
Celsr2	A	T	3: 108,303,443 (GRCm39)		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,878,503 (GRCm39)	I218T	probably damaging	Het
Copb1	T	C	7: 113,820,935 (GRCm39)	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,492,002 (GRCm39)	V607E	possibly damaging	Het
Dnali1	A	T	4: 124,957,414 (GRCm39)	L110Q	probably damaging	Het
Epn1	A	G	7: 5,096,375 (GRCm39)	E223G	probably benign	Het
Erbb3	A	G	10: 128,414,325 (GRCm39)	L473P	possibly damaging	Het
Fhip1a	A	G	3: 85,568,318 (GRCm39)	I1067T	possibly damaging	Het
Gadl1	T	A	9: 115,835,569 (GRCm39)	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Heg1	A	G	16: 33,570,863 (GRCm39)	S1188G	probably null	Het
Hipk3	G	A	2: 104,268,242 (GRCm39)	A575V	probably benign	Het
Htt	T	A	5: 35,046,809 (GRCm39)	I2375N	possibly damaging	Het
Klhl24	A	T	16: 19,938,980 (GRCm39)	K512*	probably null	Het
Krtdap	A	T	7: 30,488,952 (GRCm39)	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,410,455 (GRCm39)	S381T	probably benign	Het
Lnpep	G	A	17: 17,773,203 (GRCm39)	P655L	probably damaging	Het
Map6d1	A	G	16: 20,055,386 (GRCm39)	V150A	probably benign	Het
Marchf10	A	G	11: 105,292,802 (GRCm39)	S202P	possibly damaging	Het
Med1	A	C	11: 98,080,102 (GRCm39)	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh7	T	G	14: 55,212,752 (GRCm39)	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,088,325 (GRCm39)	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,887,907 (GRCm39)	Q18K	probably benign	Het
Ncaph	A	G	2: 126,950,529 (GRCm39)	V576A	probably benign	Het
Nrxn2	G	T	19: 6,555,057 (GRCm39)	G1179C	probably damaging	Het
Or12k8	A	C	2: 36,975,307 (GRCm39)	V151G	probably damaging	Het
P4ha1	A	G	10: 59,205,455 (GRCm39)	D495G	probably damaging	Het
Phf20	C	T	2: 156,144,843 (GRCm39)	A817V	probably benign	Het
Phlpp2	A	T	8: 110,652,431 (GRCm39)	I592F	probably benign	Het
Polq	A	G	16: 36,832,280 (GRCm39)	S7G	unknown	Het
Ppfia3	G	T	7: 44,997,941 (GRCm39)	Q729K	probably benign	Het
Prmt8	A	C	6: 127,706,462 (GRCm39)	F110V	probably damaging	Het
Psca	A	T	15: 74,587,868 (GRCm39)		probably null	Het
Pus7	G	T	5: 23,980,754 (GRCm39)	D165E	probably benign	Het
Raver2	A	G	4: 100,994,942 (GRCm39)	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,315,395 (GRCm39)	V457M	probably damaging	Het
Rbp3	A	G	14: 33,676,522 (GRCm39)	R157G	probably benign	Het
Rin3	T	G	12: 102,335,857 (GRCm39)	H589Q	probably benign	Het
Scart2	A	C	7: 139,828,913 (GRCm39)	T191P	possibly damaging	Het
Sgk2	T	A	2: 162,854,890 (GRCm39)	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,614,832 (GRCm39)	M31V	probably benign	Het
Slc23a3	G	A	1: 75,106,271 (GRCm39)	T316I	probably damaging	Het
Slc5a4b	C	A	10: 75,910,925 (GRCm39)	G304C	probably damaging	Het
Slc7a14	A	G	3: 31,311,759 (GRCm39)	V87A	probably damaging	Het
Slitrk3	A	T	3: 72,956,164 (GRCm39)	N869K	probably benign	Het
St8sia6	T	C	2: 13,661,896 (GRCm39)	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,968 (GRCm39)	E94V	probably benign	Het
Sycp2	T	C	2: 177,990,052 (GRCm39)	D1398G	probably damaging	Het
Syne1	C	A	10: 5,143,040 (GRCm39)	V114F	possibly damaging	Het
Syne1	T	C	10: 5,280,204 (GRCm39)	K1630E	probably benign	Het
Sytl2	A	G	7: 90,025,334 (GRCm39)	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,136 (GRCm39)	C424R		Het
Tln2	T	C	9: 67,302,827 (GRCm39)	D48G	probably damaging	Het
Treml1	A	G	17: 48,673,852 (GRCm39)	T288A	probably damaging	Het
Ttn	T	C	2: 76,596,113 (GRCm39)	I20267V	probably benign	Het
Ttn	A	T	2: 76,679,259 (GRCm39)	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,767,011 (GRCm39)	S829A	probably benign	Het
Xcl1	T	A	1: 164,763,079 (GRCm39)		probably benign	Het
Zdhhc23	A	T	16: 43,794,227 (GRCm39)	V149E	probably damaging	Het
Zfp273	A	T	13: 67,970,387 (GRCm39)	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,590,764 (GRCm39)	C307S	probably damaging	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
R8921:Nfkbia	UTSW	12	55,537,340 (GRCm39)	missense	probably damaging	1.00
R9188:Nfkbia	UTSW	12	55,537,258 (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'- ATGAGCTGAGTGTTCCTGGC -3'
(R):5'- GAAATCCCCTGCCAGCGTTTATAG -3'

Sequencing Primer
(F):5'- GGAACGCCCTGTACTTCC -3'
(R):5'- TTTATAGGGCGCCGCGG -3'

Posted On

2021-07-15