Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Ndufaf7'

92277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 7

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

78937135-78948052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78937502 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 17 (I17V)

Ref Sequence

ENSEMBL: ENSMUSP00000024887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]

Predicted Effect

probably benign
Transcript: ENSMUST00000024885

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
coiled coil region	113	143	N/A	INTRINSIC
Pfam:CBF	523	732	5.7e-58	PFAM
low complexity region	834	851	N/A	INTRINSIC
low complexity region	881	904	N/A	INTRINSIC
low complexity region	957	969	N/A	INTRINSIC
low complexity region	1028	1042	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000024887
AA Change: I17V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: I17V

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_28	95	349	5.5e-75	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for a gene trap mutation die prenatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Ndufaf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Ndufaf7	APN	17	78947091	unclassified	probably benign
IGL01571:Ndufaf7	APN	17	78943852	missense	probably damaging	0.96
IGL01763:Ndufaf7	APN	17	78946342	missense	possibly damaging	0.76
IGL03149:Ndufaf7	APN	17	78945010	missense	possibly damaging	0.86
R0540:Ndufaf7	UTSW	17	78946456	missense	probably benign	0.02
R1728:Ndufaf7	UTSW	17	78937629	missense	probably damaging	0.99
R1729:Ndufaf7	UTSW	17	78937629	missense	probably damaging	0.99
R1784:Ndufaf7	UTSW	17	78937629	missense	probably damaging	0.99
R1907:Ndufaf7	UTSW	17	78942117	missense	possibly damaging	0.95
R2119:Ndufaf7	UTSW	17	78945013	missense	possibly damaging	0.76
R2369:Ndufaf7	UTSW	17	78945032	missense	probably damaging	0.99
R4167:Ndufaf7	UTSW	17	78944986	missense	probably benign	0.00
R4555:Ndufaf7	UTSW	17	78942087	missense	probably benign	0.05
R4556:Ndufaf7	UTSW	17	78942087	missense	probably benign	0.05
R5236:Ndufaf7	UTSW	17	78939631	missense	probably benign	0.23
R5405:Ndufaf7	UTSW	17	78938615	missense	probably damaging	1.00
R5514:Ndufaf7	UTSW	17	78937622	missense	probably damaging	1.00
R6377:Ndufaf7	UTSW	17	78943310	missense	probably null	0.99
R7440:Ndufaf7	UTSW	17	78942117	missense	probably damaging	0.98
R8205:Ndufaf7	UTSW	17	78947032	missense	probably benign
R8280:Ndufaf7	UTSW	17	78943846	missense	possibly damaging	0.95

Posted On

2013-12-09