Mutagenetix > Incidental Mutation

Incidental Mutation 'R8799:Nfkbia'

671457

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8799 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

55536195-55539432 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to G at 55539083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021413 (fasta)

Gene Model

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

AlphaFold

Q9Z1E3

Predicted Effect

probably benign
Transcript: ENSMUST00000021413

SMART Domains

Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025

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

Meta Mutation Damage Score

0.0937

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,578 (GRCm39)	C134S	probably damaging	Het
Acox3	T	G	5: 35,747,052 (GRCm39)	F156L	probably damaging	Het
Adprhl1	T	C	8: 13,272,474 (GRCm39)	E1428G	probably benign	Het
Arhgap40	A	T	2: 158,354,758 (GRCm39)	M15L	probably benign	Het
Bahcc1	C	A	11: 120,177,173 (GRCm39)	F2020L	probably damaging	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Ccdc40	C	A	11: 119,155,292 (GRCm39)	S1177R	probably benign	Het
Ccne2	A	T	4: 11,201,355 (GRCm39)	R294S	probably benign	Het
Cib1	A	C	7: 79,882,291 (GRCm39)	S6R	probably damaging	Het
Csnk2a1	A	G	2: 152,099,886 (GRCm39)	E114G	probably damaging	Het
Cxxc1	A	G	18: 74,354,128 (GRCm39)		probably benign	Het
Decr2	A	C	17: 26,307,911 (GRCm39)	I47M	possibly damaging	Het
Dmxl2	A	G	9: 54,327,027 (GRCm39)		probably null	Het
Dse	G	A	10: 34,060,149 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,708,981 (GRCm39)	V1480A	probably benign	Het
Erap1	A	G	13: 74,805,755 (GRCm39)	I165M	probably benign	Het
Fan1	G	T	7: 64,016,406 (GRCm39)	Q573K	probably damaging	Het
Fndc3a	G	A	14: 72,793,955 (GRCm39)	T906I	probably benign	Het
Gm21915	A	C	9: 40,582,006 (GRCm39)	H33P	possibly damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,624,000 (GRCm39)	Q1384H	probably damaging	Het
Lrrc34	C	T	3: 30,678,979 (GRCm39)	E373K	probably benign	Het
Ly75	A	G	2: 60,178,785 (GRCm39)	F677L	probably damaging	Het
Megf11	A	G	9: 64,588,673 (GRCm39)	D493G	probably benign	Het
Mta3	A	T	17: 84,096,369 (GRCm39)	I348F	possibly damaging	Het
Myo1d	A	T	11: 80,575,205 (GRCm39)	F170L	probably damaging	Het
Nfx1	A	T	4: 41,023,727 (GRCm39)	E1045D	probably damaging	Het
Npffr2	T	G	5: 89,731,177 (GRCm39)	V369G	probably benign	Het
Or14c44	T	C	7: 86,061,854 (GRCm39)	C95R	probably damaging	Het
Or4d5	A	T	9: 40,011,985 (GRCm39)	M267K	possibly damaging	Het
Or4f59	A	T	2: 111,872,528 (GRCm39)	I283N	probably damaging	Het
Or5t18	A	T	2: 86,636,575 (GRCm39)	M256K	probably damaging	Het
Or5w13	G	T	2: 87,524,057 (GRCm39)	H56Q	possibly damaging	Het
Otoa	G	A	7: 120,691,894 (GRCm39)	E41K	possibly damaging	Het
Podxl	A	G	6: 31,501,400 (GRCm39)	V385A	probably damaging	Het
Ppp4r4	C	T	12: 103,567,623 (GRCm39)	T673M	possibly damaging	Het
Rbm20	G	T	19: 53,821,120 (GRCm39)	C525F	probably damaging	Het
Rnf17	A	T	14: 56,737,886 (GRCm39)	E1222D	probably damaging	Het
Ros1	G	A	10: 51,922,143 (GRCm39)	A2331V	probably benign	Het
Rrs1	T	A	1: 9,615,819 (GRCm39)	I24N	probably damaging	Het
Sec11a	A	G	7: 80,584,850 (GRCm39)	V29A	possibly damaging	Het
Shisa3	T	A	5: 67,768,749 (GRCm39)	Y216*	probably null	Het
Slc22a2	A	T	17: 12,831,425 (GRCm39)	Y405F	probably benign	Het
Slc2a12	A	T	10: 22,568,105 (GRCm39)	M511L	possibly damaging	Het
Slc38a9	T	A	13: 112,840,136 (GRCm39)	H338Q	probably damaging	Het
Slco1c1	T	G	6: 141,505,531 (GRCm39)	S486A	probably benign	Het
Slit2	T	C	5: 48,461,524 (GRCm39)	S1524P	possibly damaging	Het
Spata31d1c	T	C	13: 65,184,140 (GRCm39)	S561P	possibly damaging	Het
Stac3	T	A	10: 127,340,781 (GRCm39)	M182K	probably damaging	Het
Stt3b	T	C	9: 115,077,685 (GRCm39)	E689G	probably damaging	Het
Suclg1	A	G	6: 73,248,091 (GRCm39)	K271E	probably benign	Het
Tas1r1	A	G	4: 152,116,708 (GRCm39)	Y309H	probably benign	Het
Tbc1d5	TGC	TGCCGC	17: 51,106,969 (GRCm39)		probably benign	Het
Tbc1d5	TG	TGCGG	17: 51,106,978 (GRCm39)		probably benign	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tbc1d5	TGC	TGCGGC	17: 51,106,963 (GRCm39)		probably benign	Het
Tmem101	A	G	11: 102,044,336 (GRCm39)	F184L	probably benign	Het
Zfp474	A	G	18: 52,772,166 (GRCm39)	Q273R	probably benign	Het
Zfyve28	A	G	5: 34,390,670 (GRCm39)	L197P	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
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
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'- CGCGAGGTTATTATGAGCTGAG -3'
(R):5'- ACAGCCATGTTTCAGCCAGC -3'

Sequencing Primer
(F):5'- AGCTGAGTGTTCCTGGCAGC -3'
(R):5'- CAGGACTGGGCCATGGAG -3'

Posted On

2021-04-30