Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Ndufaf7'

92277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Synonyms

2410091C18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

79244565-79255481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79244931 bp (GRCm39)

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]

AlphaFold

Q9CWG8

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: 125,589,716 (GRCm39)	M446R	possibly damaging	Het
Abca16	A	G	7: 120,140,500 (GRCm39)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,763,146 (GRCm39)	Q528*	probably null	Het
Ano10	A	T	9: 122,088,606 (GRCm39)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,361,992 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,086,191 (GRCm39)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,638,053 (GRCm39)	T450N	probably benign	Het
Cbr3	A	T	16: 93,480,331 (GRCm39)	E40V	probably benign	Het
Cdk10	T	C	8: 123,955,126 (GRCm39)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,152,382 (GRCm39)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,219,502 (GRCm39)		probably benign	Het
Cyp2b19	C	T	7: 26,462,886 (GRCm39)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,497,713 (GRCm39)	H687R	probably benign	Het
Elovl1	T	C	4: 118,288,467 (GRCm39)	V108A	probably benign	Het
Emb	T	A	13: 117,408,614 (GRCm39)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,617,339 (GRCm39)	L36P	probably damaging	Het
Esco2	T	G	14: 66,064,044 (GRCm39)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,211,809 (GRCm39)		probably benign	Het
Golga1	A	G	2: 38,910,138 (GRCm39)	M603T	probably benign	Het
Hsph1	A	G	5: 149,550,743 (GRCm39)	V411A	probably benign	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Ints11	T	C	4: 155,969,655 (GRCm39)		probably null	Het
Jakmip1	G	T	5: 37,258,112 (GRCm39)	A253S	probably damaging	Het
Met	A	G	6: 17,540,576 (GRCm39)	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,024,984 (GRCm39)	T2A	probably benign	Het
Myh2	G	T	11: 67,088,170 (GRCm39)	V1929L	probably benign	Het
Myh8	T	C	11: 67,192,536 (GRCm39)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,248,555 (GRCm39)		probably benign	Het
Or4a47	T	C	2: 89,666,152 (GRCm39)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,230,515 (GRCm39)	D121N	probably damaging	Het
Or5h25	A	T	16: 58,930,284 (GRCm39)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,541,492 (GRCm39)	I248M	probably benign	Het
Or7g18	T	A	9: 18,786,617 (GRCm39)		probably benign	Het
Or8b50	A	G	9: 38,517,850 (GRCm39)	I30V	probably null	Het
Or8k1	T	G	2: 86,047,505 (GRCm39)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,383,679 (GRCm39)	E477G	probably benign	Het
Scmh1	T	A	4: 120,387,097 (GRCm39)		probably benign	Het
Scn1a	C	A	2: 66,116,281 (GRCm39)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 118,389,676 (GRCm39)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,658,940 (GRCm39)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,035,960 (GRCm39)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm39)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,805,308 (GRCm39)	N177S	probably benign	Het
Tyk2	T	C	9: 21,031,872 (GRCm39)	D401G	probably damaging	Het
Vav1	T	C	17: 57,614,067 (GRCm39)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,119,718 (GRCm39)	H385R	probably damaging	Het
Xab2	T	C	8: 3,660,880 (GRCm39)	M745V	probably benign	Het

Other mutations in Ndufaf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Ndufaf7	APN	17	79,254,520 (GRCm39)	unclassified	probably benign
IGL01571:Ndufaf7	APN	17	79,251,281 (GRCm39)	missense	probably damaging	0.96
IGL01763:Ndufaf7	APN	17	79,253,771 (GRCm39)	missense	possibly damaging	0.76
IGL03149:Ndufaf7	APN	17	79,252,439 (GRCm39)	missense	possibly damaging	0.86
R0540:Ndufaf7	UTSW	17	79,253,885 (GRCm39)	missense	probably benign	0.02
R1728:Ndufaf7	UTSW	17	79,245,058 (GRCm39)	missense	probably damaging	0.99
R1729:Ndufaf7	UTSW	17	79,245,058 (GRCm39)	missense	probably damaging	0.99
R1784:Ndufaf7	UTSW	17	79,245,058 (GRCm39)	missense	probably damaging	0.99
R1907:Ndufaf7	UTSW	17	79,249,546 (GRCm39)	missense	possibly damaging	0.95
R2119:Ndufaf7	UTSW	17	79,252,442 (GRCm39)	missense	possibly damaging	0.76
R2369:Ndufaf7	UTSW	17	79,252,461 (GRCm39)	missense	probably damaging	0.99
R4167:Ndufaf7	UTSW	17	79,252,415 (GRCm39)	missense	probably benign	0.00
R4555:Ndufaf7	UTSW	17	79,249,516 (GRCm39)	missense	probably benign	0.05
R4556:Ndufaf7	UTSW	17	79,249,516 (GRCm39)	missense	probably benign	0.05
R5236:Ndufaf7	UTSW	17	79,247,060 (GRCm39)	missense	probably benign	0.23
R5405:Ndufaf7	UTSW	17	79,246,044 (GRCm39)	missense	probably damaging	1.00
R5514:Ndufaf7	UTSW	17	79,245,051 (GRCm39)	missense	probably damaging	1.00
R6377:Ndufaf7	UTSW	17	79,250,739 (GRCm39)	missense	probably null	0.99
R7440:Ndufaf7	UTSW	17	79,249,546 (GRCm39)	missense	probably damaging	0.98
R8205:Ndufaf7	UTSW	17	79,254,461 (GRCm39)	missense	probably benign
R8280:Ndufaf7	UTSW	17	79,251,275 (GRCm39)	missense	possibly damaging	0.95
R8931:Ndufaf7	UTSW	17	79,244,950 (GRCm39)	missense	possibly damaging	0.55
R9042:Ndufaf7	UTSW	17	79,245,968 (GRCm39)	critical splice acceptor site	probably null
R9463:Ndufaf7	UTSW	17	79,253,900 (GRCm39)	critical splice donor site	probably null
R9573:Ndufaf7	UTSW	17	79,246,036 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09