Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Ndufaf7'

687803

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Synonyms

2410091C18Rik

MMRRC Submission

068869-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79244565-79255481 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 79245968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000024887

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,152,134 (GRCm39)	K208R	probably benign	Het
Amh	T	C	10: 80,642,443 (GRCm39)	M242T	possibly damaging	Het
Anpep	T	C	7: 79,488,510 (GRCm39)	Y440C	probably damaging	Het
Atf7ip	G	T	6: 136,538,263 (GRCm39)	E499*	probably null	Het
Clasp2	A	G	9: 113,735,065 (GRCm39)	I967V	probably benign	Het
Cpa6	T	C	1: 10,407,515 (GRCm39)	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,553,590 (GRCm39)	Y263F	probably benign	Het
Ecm2	C	A	13: 49,682,439 (GRCm39)	Y489*	probably null	Het
Gpr22	C	A	12: 31,759,853 (GRCm39)	V90L	probably benign	Het
Grip1	G	A	10: 119,836,438 (GRCm39)	V516M	probably benign	Het
Ipo5	C	T	14: 121,160,547 (GRCm39)	S188L	probably benign	Het
Kcnh6	T	A	11: 105,908,464 (GRCm39)	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,392,029 (GRCm39)	D512Y		Het
Lrpprc	C	T	17: 85,059,736 (GRCm39)		probably null	Het
Lta4h	A	G	10: 93,318,850 (GRCm39)	K547R	probably benign	Het
Nacad	G	C	11: 6,548,948 (GRCm39)	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,156,301 (GRCm39)	K495E	probably benign	Het
Nsrp1	A	G	11: 76,941,477 (GRCm39)	V77A	probably benign	Het
Or1f19	A	T	16: 3,411,132 (GRCm39)	S291C	probably damaging	Het
Or8k3b	T	C	2: 86,521,139 (GRCm39)	Y60C	probably damaging	Het
P2ry12	A	G	3: 59,125,456 (GRCm39)	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,574,493 (GRCm39)	T231I	probably benign	Het
Parp11	C	A	6: 127,448,615 (GRCm39)	Y77*	probably null	Het
Phc3	T	A	3: 30,983,916 (GRCm39)	T712S	unknown	Het
Pkm	T	A	9: 59,579,220 (GRCm39)	I335N	probably damaging	Het
Pmpca	A	G	2: 26,283,581 (GRCm39)	T417A	probably benign	Het
Pot1b	C	T	17: 56,006,991 (GRCm39)		probably null	Het
Prrc1	T	A	18: 57,507,764 (GRCm39)		probably null	Het
Psg18	A	T	7: 18,083,047 (GRCm39)	N369K	probably benign	Het
Pum3	T	A	19: 27,399,791 (GRCm39)	Y214F	probably damaging	Het
Reln	G	A	5: 22,253,036 (GRCm39)	T637M	probably damaging	Het
Rpe65	A	T	3: 159,321,292 (GRCm39)	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,199,731 (GRCm39)	L263F	probably damaging	Het
Slc25a23	C	T	17: 57,352,553 (GRCm39)	V444I	probably damaging	Het
Slc40a1	C	T	1: 45,948,621 (GRCm39)	G553D	probably benign	Het
Spata31e5	T	C	1: 28,816,037 (GRCm39)	Q665R	possibly damaging	Het
Spata31h1	A	G	10: 82,123,185 (GRCm39)	I3275T	probably benign	Het
Taf7	C	A	18: 37,776,223 (GRCm39)	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,673,766 (GRCm39)	A1624P	probably benign	Het
Tmed4	T	C	11: 6,224,405 (GRCm39)	D85G	probably benign	Het
Tmed6	A	G	8: 107,790,385 (GRCm39)	V138A	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Ttc38	A	G	15: 85,720,310 (GRCm39)	T91A	probably benign	Het
Ube4b	C	G	4: 149,444,833 (GRCm39)	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,315,435 (GRCm39)	C795R	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
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
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'- GCTGTTTGGTGAGTTTTGCAAAA -3'
(R):5'- GGCAGTTAGCTCACTTGCTTC -3'

Sequencing Primer
(F):5'- GGTGAGTTTTGCAAAATGACTACTAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2021-11-19