Mutagenetix > Incidental Mutations

Incidental Mutation 'R3002:Ndufa8'

477296

Institutional Source

Beutler Lab

Gene Symbol

Ndufa8

Ensembl Gene

ENSMUSG00000026895

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8

Synonyms

0610033L03Rik

MMRRC Submission

040531-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36036326-36049406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36036559 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 155 (E155V)

Ref Sequence

ENSEMBL: ENSMUSP00000065352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070112]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070112
AA Change: E155V

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: E155V

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:CHCH	78	113	3.6e-10	PFAM

Meta Mutation Damage Score

0.2899

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,080	W40R	possibly damaging	Het
A2m	A	G	6: 121,661,447	S873G	possibly damaging	Het
Acd	C	T	8: 105,700,281		probably null	Het
Acly	T	C	11: 100,504,227	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,596,660	T767A	probably benign	Het
Bnip3	T	C	7: 138,894,701	I93V	probably benign	Het
Casq2	A	G	3: 102,145,201	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988	D182G	probably benign	Het
Cep112	A	G	11: 108,440,503	E178G	probably damaging	Het
Chrd	T	G	16: 20,737,445	Y585*	probably null	Het
Cnksr3	T	C	10: 7,152,856		probably benign	Het
Csmd1	A	G	8: 16,196,170	F1072L	probably damaging	Het
Dnaic2	C	T	11: 114,750,471	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,692,384	F1289I	probably damaging	Het
Eprs	T	C	1: 185,424,391		probably null	Het
Fam105a	T	C	15: 27,664,706	T55A	probably benign	Het
Fasn	T	C	11: 120,809,845	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,225,077	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162	R1245L	probably benign	Het
Folh1	A	C	7: 86,723,311	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139		probably benign	Het
Hal	G	A	10: 93,507,519	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,500,687	M252K	probably damaging	Het
Il27ra	G	T	8: 84,032,031	S499*	probably null	Het
Klhdc1	T	A	12: 69,256,209	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lnx2	A	G	5: 147,019,015	V657A	probably benign	Het
Lrig1	G	A	6: 94,608,777	S810L	probably damaging	Het
Lyst	A	T	13: 13,696,705	M2676L	probably benign	Het
Mindy4	T	A	6: 55,218,364	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,643,484	M106I	probably benign	Het
Ncam1	A	G	9: 49,557,226	I311T	probably damaging	Het
Nr4a1	A	G	15: 101,270,972		probably null	Het
Olfr446	A	G	6: 42,927,954	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790	T660A	probably benign	Het
Otub2	T	C	12: 103,404,277	S273P	probably damaging	Het
Phf11c	A	G	14: 59,384,840	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,462,797	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,155,557	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,793,218	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,913,016	N73S	probably benign	Het
Polr1a	T	A	6: 71,965,644	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976		probably null	Het
Ptcd1	G	A	5: 145,159,576	L236F	probably damaging	Het
Rgl2	A	G	17: 33,932,605	I208V	probably benign	Het
Rhox2e	C	A	X: 37,530,863	P69Q	probably damaging	Het
Rptor	G	A	11: 119,872,371	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 5,171,882	Y230C	probably damaging	Het
Sele	G	T	1: 164,053,571	G447C	probably damaging	Het
Slc17a1	G	A	13: 23,878,581		probably null	Het
Slc2a4	A	T	11: 69,945,925	Y159*	probably null	Het
Slitrk5	A	G	14: 111,679,582	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,861,750	Y981*	probably null	Het
Tex15	T	C	8: 33,574,528	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,844,194	S2W	probably damaging	Het
Thoc5	A	G	11: 4,928,688	M620V	probably benign	Het
Tmeff2	C	T	1: 51,181,835	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588	L34W	probably damaging	Het
Tmtc4	A	T	14: 122,932,818		probably null	Het
Trpm2	A	T	10: 77,930,534		probably null	Het
Tyk2	C	A	9: 21,109,321	R938L	probably benign	Het
Usp33	A	T	3: 152,357,942	T18S	probably damaging	Het
V1rd19	A	T	7: 24,003,885	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,804,272	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,065,863	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,580,305	V125I	probably benign	Het
Zcchc11	G	A	4: 108,512,928	E714K	probably damaging	Het
Zkscan17	A	G	11: 59,487,251	C369R	probably damaging	Het

Other mutations in Ndufa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Ndufa8	APN	2	36044455	missense	probably damaging	0.99
IGL02603:Ndufa8	APN	2	36044458	missense	probably damaging	1.00
R0322:Ndufa8	UTSW	2	36036622	missense	probably benign	0.11
R2161:Ndufa8	UTSW	2	36036515	missense	probably damaging	1.00
R2287:Ndufa8	UTSW	2	36036542	missense	probably benign	0.36
R3001:Ndufa8	UTSW	2	36036559	missense	possibly damaging	0.83
R6186:Ndufa8	UTSW	2	36039740	missense	probably benign	0.16
R7068:Ndufa8	UTSW	2	36044435	missense	possibly damaging	0.95

Predicted Primers

Posted On

2017-05-15