Mutagenetix > Incidental Mutation

Incidental Mutation 'R5514:Ndufaf7'

440267

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Synonyms

2410091C18Rik

MMRRC Submission

043074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79244565-79255481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79245051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 57 (Y57H)

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 damaging
Transcript: ENSMUST00000024887
AA Change: Y57H

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

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: Y57H

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

Coding Region Coverage

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,390,520 (GRCm39)	S382G	probably damaging	Het
Agr2	G	A	12: 36,046,090 (GRCm39)	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,108,867 (GRCm39)	S423P	probably damaging	Het
Ampd1	C	T	3: 102,986,488 (GRCm39)	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,550,304 (GRCm39)	P670T	probably benign	Het
Blk	T	G	14: 63,615,930 (GRCm39)	D333A	probably damaging	Het
Bmi1	T	C	2: 18,686,714 (GRCm39)	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,072,790 (GRCm39)	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,879,698 (GRCm39)	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,961,270 (GRCm39)	A100T	probably damaging	Het
Cfap251	G	T	5: 123,425,829 (GRCm39)		probably null	Het
Chst4	G	T	8: 110,756,606 (GRCm39)	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,649,844 (GRCm39)	I680T	probably damaging	Het
Ddx55	T	C	5: 124,694,875 (GRCm39)	V101A	probably damaging	Het
Ddx60	A	T	8: 62,411,091 (GRCm39)	E451V	probably damaging	Het
Dffa	T	A	4: 149,190,772 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,861,832 (GRCm39)	R796G	probably damaging	Het
Dzank1	T	A	2: 144,323,605 (GRCm39)	M614L	probably benign	Het
Elf2	G	T	3: 51,215,555 (GRCm39)	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,741,793 (GRCm39)	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,258,858 (GRCm39)	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm4787	A	G	12: 81,425,102 (GRCm39)	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,336,802 (GRCm39)	Q13R	probably benign	Het
Itpkb	G	A	1: 180,241,474 (GRCm39)	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,053,928 (GRCm39)	S263T	probably damaging	Het
Krba1	T	G	6: 48,390,429 (GRCm39)	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Mtor	T	A	4: 148,630,901 (GRCm39)	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,341,462 (GRCm39)	V1100E	possibly damaging	Het
Myo5a	G	A	9: 75,061,048 (GRCm39)	G518D	probably damaging	Het
Nalcn	A	T	14: 123,521,123 (GRCm39)	I1594N	probably benign	Het
Nav1	C	G	1: 135,398,299 (GRCm39)	G761A	probably benign	Het
Ncoa2	A	T	1: 13,251,445 (GRCm39)	L276H	probably damaging	Het
Nfkb2	A	G	19: 46,299,847 (GRCm39)	Y807C	probably damaging	Het
Nid2	A	T	14: 19,852,535 (GRCm39)	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,827,189 (GRCm39)	I134F	probably damaging	Het
Nmu	A	C	5: 76,497,979 (GRCm39)	S69A	probably damaging	Het
Or4c15b	A	T	2: 89,112,817 (GRCm39)	I220N	probably damaging	Het
Or5t7	T	C	2: 86,507,225 (GRCm39)	I151V	probably benign	Het
Pard3	A	G	8: 128,153,086 (GRCm39)	R886G	probably damaging	Het
Pde6b	G	T	5: 108,571,317 (GRCm39)	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,327,505 (GRCm39)	D450E	probably damaging	Het
Plcg1	T	C	2: 160,595,275 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,103,246 (GRCm39)	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,175,797 (GRCm39)	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,246,228 (GRCm39)	L70P	probably damaging	Het
Prr5	C	A	15: 84,587,096 (GRCm39)	P282Q	probably benign	Het
Reln	A	T	5: 22,176,883 (GRCm39)	W1928R	possibly damaging	Het
Sacm1l	A	T	9: 123,415,419 (GRCm39)	R465*	probably null	Het
Sema7a	A	G	9: 57,863,046 (GRCm39)	Y239C	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054 (GRCm39)	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,004,609 (GRCm39)	W19R	probably damaging	Het
Tmc2	T	A	2: 130,083,564 (GRCm39)	M507K	possibly damaging	Het
Unc13a	A	G	8: 72,095,795 (GRCm39)	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,081,771 (GRCm39)	P103S	probably damaging	Het
Vldlr	A	G	19: 27,221,624 (GRCm39)	E663G	probably damaging	Het
Vmn2r68	G	A	7: 84,886,767 (GRCm39)	T49I	possibly damaging	Het
Xirp2	A	T	2: 67,335,465 (GRCm39)	M95L	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
IGL01613:Ndufaf7	APN	17	79,244,931 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTGATGAACGAGGCATCC -3'
(R):5'- ACTGCCCTTTAACGCAAATG -3'

Sequencing Primer
(F):5'- CGAGGCATCCTTACAAGCTTTAGG -3'
(R):5'- GCCCTTTAACGCAAATGACAGATAAG -3'

Posted On

2016-11-08