Mutagenetix > Incidental Mutation

Incidental Mutation 'R4289:Nfkbie'

322358

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

041654-MU

Accession Numbers

Essential gene?

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

Stock #

R4289 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45866629-45874095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45869516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 157 (L157P)

Ref Sequence

ENSEMBL: ENSMUSP00000024742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024742]

AlphaFold

O54910

Predicted Effect

probably damaging
Transcript: ENSMUST00000024742
AA Change: L157P

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

SMART Domains

Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: L157P

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

Meta Mutation Damage Score

0.3037

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	C	T	3: 32,766,263 (GRCm39)	T39M	possibly damaging	Het
Arhgdib	T	C	6: 136,901,156 (GRCm39)	N191S	probably benign	Het
Arhgef39	A	G	4: 43,497,353 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,947,233 (GRCm39)	R1139C	probably damaging	Het
Cdhr5	A	T	7: 140,852,752 (GRCm39)	I78N	probably damaging	Het
Cfap97	T	A	8: 46,645,698 (GRCm39)	N525K	probably benign	Het
Cntn2	T	A	1: 132,455,481 (GRCm39)	Y252F	probably benign	Het
Cyp3a57	G	A	5: 145,286,207 (GRCm39)	G48S	probably damaging	Het
Cyp4v3	A	C	8: 45,781,260 (GRCm39)	F73V	possibly damaging	Het
Ear10	T	C	14: 44,160,404 (GRCm39)	D141G	probably benign	Het
Fbn2	T	C	18: 58,168,411 (GRCm39)	I2309V	probably damaging	Het
Fcrl5	A	G	3: 87,349,531 (GRCm39)	D102G	probably benign	Het
Fdxacb1	A	T	9: 50,683,879 (GRCm39)	Q614L	probably damaging	Het
Gm10267	T	C	18: 44,290,331 (GRCm39)	T59A	probably damaging	Het
Gm5581	C	T	6: 131,144,519 (GRCm39)		noncoding transcript	Het
Gm5592	G	T	7: 40,808,336 (GRCm39)		probably benign	Het
Gtf2a1l	A	G	17: 89,001,884 (GRCm39)	T200A	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift122	T	C	6: 115,900,852 (GRCm39)	C1057R	probably damaging	Het
Kirrel3	A	T	9: 34,934,769 (GRCm39)	N73I	probably benign	Het
Kndc1	A	G	7: 139,490,798 (GRCm39)	I433M	probably benign	Het
Mks1	T	C	11: 87,747,530 (GRCm39)		probably benign	Het
Mmp14	A	T	14: 54,673,665 (GRCm39)	K110*	probably null	Het
Mms19	A	G	19: 41,933,992 (GRCm39)	L938P	probably damaging	Het
Mrpl36	A	T	13: 73,479,777 (GRCm39)		probably null	Het
Mypn	T	C	10: 62,966,961 (GRCm39)	E905G	probably damaging	Het
Ncam1	G	T	9: 49,468,472 (GRCm39)	T329N	probably damaging	Het
Or14c45	T	A	7: 86,176,262 (GRCm39)	I99N	probably damaging	Het
Or4f47	T	A	2: 111,972,319 (GRCm39)	S10T	probably benign	Het
Pappa	C	T	4: 65,074,100 (GRCm39)	A218V	probably benign	Het
Plekhg5	T	C	4: 152,196,884 (GRCm39)	Y737H	probably benign	Het
Plod2	G	A	9: 92,485,041 (GRCm39)	R514Q	possibly damaging	Het
Plxnb1	C	T	9: 108,943,420 (GRCm39)	R1888W	probably damaging	Het
Prss45	A	G	9: 110,669,997 (GRCm39)	T269A	probably benign	Het
Ptpn13	A	G	5: 103,681,151 (GRCm39)	T784A	probably damaging	Het
Pycr3	T	C	15: 75,790,655 (GRCm39)	N68S	probably benign	Het
Rbis	T	C	3: 14,674,714 (GRCm39)	M1V	probably null	Het
Rdh14	A	T	12: 10,444,949 (GRCm39)	N267Y	probably benign	Het
Rph3a	G	A	5: 121,111,368 (GRCm39)	R71C	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Spata13	T	A	14: 60,928,523 (GRCm39)	V27E	probably damaging	Het
Tbc1d1	T	A	5: 64,417,771 (GRCm39)	S312T	probably damaging	Het
Tcp11l2	T	C	10: 84,440,937 (GRCm39)		probably null	Het
Trdn	C	T	10: 33,340,578 (GRCm39)	S604L	probably benign	Het
Ttn	T	C	2: 76,640,742 (GRCm39)	T13669A	probably benign	Het
Tyw3	A	T	3: 154,302,645 (GRCm39)	F30I	probably damaging	Het
Vmn1r227	G	T	17: 20,956,092 (GRCm39)		noncoding transcript	Het
Vmn2r74	C	T	7: 85,606,562 (GRCm39)	M261I	probably benign	Het
Zfp217	C	T	2: 169,956,707 (GRCm39)	G764S	probably benign	Het
Zfp267	A	G	3: 36,213,747 (GRCm39)	N27S	possibly damaging	Het
Zfp748	T	A	13: 67,689,202 (GRCm39)	H686L	probably damaging	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
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
R7304:Nfkbie	UTSW	17	45,871,067 (GRCm39)	missense	possibly damaging	0.95
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'- GAGCTCCCATCTCCAGAATC -3'
(R):5'- TCAGGTGCCAGTGATGAGTC -3'

Sequencing Primer
(F):5'- AGCTAGTTAAGAGGTCGATGCATTC -3'
(R):5'- CAGTGATGAGTCTGTGGGCAC -3'

Posted On

2015-06-20