Mutagenetix > Incidental Mutation

Incidental Mutation 'R7304:Nfkbie'

567199

Institutional Source

Beutler Lab

Gene Symbol

Nfkbie

Ensembl Gene

ENSMUSG00000023947

Gene Name

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

Synonyms

MMRRC Submission

045365-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45866629-45874095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45871067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 240 (I240F)

Ref Sequence

ENSEMBL: ENSMUSP00000024742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]

AlphaFold

O54910

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024742
AA Change: I240F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: I240F

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
low complexity region	93	110	N/A	INTRINSIC
ANK	122	152	1.14e2	SMART
ANK	157	187	2.15e0	SMART
ANK	190	219	6.81e-3	SMART
ANK	233	262	5.09e-2	SMART
ANK	267	296	1.12e-3	SMART
ANK	300	329	1e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041353

SMART Domains

Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089

Domain	Start	End	E-Value	Type
Pfam:UAA	62	363	5.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223987

Predicted Effect

probably benign
Transcript: ENSMUST00000224341

Predicted Effect

probably benign
Transcript: ENSMUST00000224905

Predicted Effect

probably benign
Transcript: ENSMUST00000226086

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene display an essentially normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,247,203 (GRCm39)	S2317G	probably benign	Het
Acap2	A	C	16: 30,926,934 (GRCm39)	L502R	probably benign	Het
Amotl2	A	G	9: 102,605,549 (GRCm39)	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,743,147 (GRCm39)		probably null	Het
Armc9	C	G	1: 86,090,437 (GRCm39)	D77E	probably benign	Het
Art1	T	A	7: 101,755,531 (GRCm39)	S8T	possibly damaging	Het
Asic5	G	A	3: 81,916,872 (GRCm39)	A321T	possibly damaging	Het
Astn2	A	G	4: 66,103,612 (GRCm39)	I267T	unknown	Het
Bmp8a	T	C	4: 123,236,182 (GRCm39)	N107S	probably benign	Het
Card14	T	A	11: 119,228,573 (GRCm39)	L633Q	probably damaging	Het
Chpf	C	T	1: 75,455,698 (GRCm39)	V18M	possibly damaging	Het
Cog7	T	C	7: 121,536,362 (GRCm39)	I493V	probably benign	Het
Col3a1	A	T	1: 45,386,971 (GRCm39)	N1394I	unknown	Het
Crybg1	C	T	10: 43,873,254 (GRCm39)	D1285N	probably benign	Het
Depdc7	A	G	2: 104,553,463 (GRCm39)	V395A	possibly damaging	Het
Dido1	G	A	2: 180,329,286 (GRCm39)	L379F	probably damaging	Het
Dnajc13	G	T	9: 104,115,713 (GRCm39)	T32N	probably benign	Het
Dok2	T	A	14: 71,013,468 (GRCm39)	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,766,410 (GRCm39)	R1311H	probably damaging	Het
Gm3099	A	T	14: 15,346,488 (GRCm39)	N118I	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Heg1	G	A	16: 33,581,160 (GRCm39)	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,470,156 (GRCm39)	Y248F	possibly damaging	Het
Irag1	T	C	7: 110,498,931 (GRCm39)	T367A	possibly damaging	Het
Itgb3bp	C	G	4: 99,657,758 (GRCm39)	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,012,066 (GRCm39)	T216A	probably benign	Het
Kcnj6	A	T	16: 94,742,042 (GRCm39)	M10K	probably benign	Het
Krt17	T	G	11: 100,148,163 (GRCm39)	Q397P	probably benign	Het
Lrtm1	T	A	14: 28,744,075 (GRCm39)	M181K	probably damaging	Het
Map3k5	A	G	10: 19,975,301 (GRCm39)	H741R	probably damaging	Het
Mier1	T	A	4: 102,996,599 (GRCm39)	Y120*	probably null	Het
Myh14	T	A	7: 44,279,415 (GRCm39)	T922S	probably benign	Het
Npas3	C	A	12: 54,115,824 (GRCm39)	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,178,994 (GRCm39)	V314E	probably benign	Het
Or2z9	T	A	8: 72,854,190 (GRCm39)	Y195*	probably null	Het
Pds5a	T	C	5: 65,777,077 (GRCm39)	N28S	probably damaging	Het
Pira1	T	C	7: 3,740,493 (GRCm39)	T243A	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,878 (GRCm39)	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,294,874 (GRCm39)	Y99C	probably benign	Het
Plpp6	T	C	19: 28,941,617 (GRCm39)	S73P	probably benign	Het
Polb	T	C	8: 23,129,975 (GRCm39)	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,838,840 (GRCm39)	N13D	possibly damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprn2	T	A	12: 117,212,164 (GRCm39)	V862D	probably damaging	Het
Rassf4	T	C	6: 116,617,278 (GRCm39)	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,598 (GRCm39)	T320I	probably damaging	Het
Sctr	A	T	1: 119,949,970 (GRCm39)	E53V	probably damaging	Het
Srcin1	T	C	11: 97,442,519 (GRCm39)	D103G	probably benign	Het
St3gal3	T	C	4: 117,814,633 (GRCm39)	Q220R		Het
Stk40	G	A	4: 126,019,483 (GRCm39)	E86K	probably benign	Het
Tas2r104	T	A	6: 131,662,005 (GRCm39)	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,738,280 (GRCm39)	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,030,890 (GRCm39)	N1075S	probably benign	Het
Trak1	A	G	9: 121,245,278 (GRCm39)	Y51C	probably benign	Het
Trav16n	T	A	14: 53,588,859 (GRCm39)	V45E	probably benign	Het
Ttc6	T	C	12: 57,622,837 (GRCm39)	S79P	probably damaging	Het
Unc79	C	T	12: 103,029,449 (GRCm39)	T484M	probably damaging	Het
Usp49	T	C	17: 47,983,796 (GRCm39)	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,216,004 (GRCm39)	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,908,011 (GRCm39)	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,490,824 (GRCm39)	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,411,671 (GRCm39)	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,203,586 (GRCm39)	L55S	probably damaging	Het
Wdr90	T	C	17: 26,070,480 (GRCm39)	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,569,480 (GRCm39)	S535P	probably damaging	Het
Zfp329	T	C	7: 12,544,826 (GRCm39)	I233V	probably damaging	Het
Zfp579	T	A	7: 4,997,582 (GRCm39)	T110S	probably benign	Het

Other mutations in Nfkbie

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Nfkbie	APN	17	45,871,139 (GRCm39)	critical splice donor site	probably null
IGL01331:Nfkbie	APN	17	45,869,495 (GRCm39)	missense	probably benign	0.41
IGL01787:Nfkbie	APN	17	45,867,189 (GRCm39)	missense	probably damaging	1.00
IGL02162:Nfkbie	APN	17	45,867,242 (GRCm39)	critical splice donor site	probably null
R2092:Nfkbie	UTSW	17	45,869,465 (GRCm39)	missense	probably benign	0.06
R4289:Nfkbie	UTSW	17	45,869,516 (GRCm39)	missense	probably damaging	1.00
R4512:Nfkbie	UTSW	17	45,867,165 (GRCm39)	missense	probably benign	0.00
R4609:Nfkbie	UTSW	17	45,869,510 (GRCm39)	missense	probably damaging	1.00
R4720:Nfkbie	UTSW	17	45,867,232 (GRCm39)	missense	probably benign	0.19
R5420:Nfkbie	UTSW	17	45,871,132 (GRCm39)	missense	probably benign	0.01
R7226:Nfkbie	UTSW	17	45,870,153 (GRCm39)	missense	possibly damaging	0.85
R7472:Nfkbie	UTSW	17	45,870,233 (GRCm39)	missense	probably damaging	0.97
R8326:Nfkbie	UTSW	17	45,870,234 (GRCm39)	missense	probably damaging	1.00
R8915:Nfkbie	UTSW	17	45,871,067 (GRCm39)	missense	probably benign	0.01
R9038:Nfkbie	UTSW	17	45,870,183 (GRCm39)	missense	probably damaging	0.99
R9045:Nfkbie	UTSW	17	45,872,959 (GRCm39)	missense	probably damaging	1.00
R9485:Nfkbie	UTSW	17	45,871,353 (GRCm39)	missense	probably damaging	1.00
Z1177:Nfkbie	UTSW	17	45,871,434 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACCCTTGAAGCATAAAAGTTTC -3'
(R):5'- ATATGTTTGACGCTGCCAGGG -3'

Sequencing Primer
(F):5'- CCGAAAAAGTGGAAACTTTGAGTTCC -3'
(R):5'- GGACCTGTAGTTAGACCAGGTG -3'

Posted On

2019-06-26