Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Ndufaf7'

635892

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Synonyms

2410091C18Rik

MMRRC Submission

067628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79244565-79255481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79254461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 418 (C418Y)

Ref Sequence

ENSEMBL: ENSMUSP00000024887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003191] [ENSMUST00000024887] [ENSMUST00000118768] [ENSMUST00000119284] [ENSMUST00000168887]

AlphaFold

Q9CWG8

Predicted Effect

probably benign
Transcript: ENSMUST00000003191

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	575	831	4.5e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000024887
AA Change: C418Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: C418Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118768

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070

Domain	Start	End	E-Value	Type
C1	60	109	1.95e-13	SMART
C1	177	226	1.26e-16	SMART
PH	322	439	1.18e-10	SMART
S_TKc	481	737	4.5e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119284

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	576	832	4.5e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168887

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	575	831	4.5e-90	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,080 (GRCm39)	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,117,650 (GRCm39)	*204W	probably null	Het
Add2	A	G	6: 86,063,899 (GRCm39)	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,192,175 (GRCm39)	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,678,070 (GRCm39)	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,331,009 (GRCm39)	M166K	probably damaging	Het
Brd7	A	G	8: 89,070,243 (GRCm39)	F388L	probably damaging	Het
Cap2	G	A	13: 46,768,739 (GRCm39)	V182M	probably damaging	Het
Col22a1	A	T	15: 71,732,918 (GRCm39)	V1100E	unknown	Het
Cracdl	T	C	1: 37,664,047 (GRCm39)	D617G	probably benign	Het
Crisp2	T	C	17: 41,095,969 (GRCm39)	E63G	possibly damaging	Het
Dst	T	G	1: 34,253,685 (GRCm39)	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,456,156 (GRCm39)	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,704 (GRCm39)	H108Q	probably benign	Het
Fgd3	T	C	13: 49,449,823 (GRCm39)	D142G	probably benign	Het
Gbp8	T	A	5: 105,198,846 (GRCm39)	H23L	probably benign	Het
Glt1d1	A	G	5: 127,768,080 (GRCm39)	E229G	probably benign	Het
Gpatch8	T	C	11: 102,371,213 (GRCm39)	D775G	unknown	Het
Heatr1	T	C	13: 12,430,928 (GRCm39)	Y1008H	probably benign	Het
Heatr5a	T	A	12: 52,005,792 (GRCm39)	N61I	probably benign	Het
Hydin	A	T	8: 111,319,270 (GRCm39)	H4391L	possibly damaging	Het
Ifi206	T	C	1: 173,309,450 (GRCm39)	E182G		Het
Mbtps1	A	G	8: 120,247,077 (GRCm39)	S789P	probably damaging	Het
Mex3a	T	C	3: 88,444,159 (GRCm39)	S412P	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,542 (GRCm39)	V318I	possibly damaging	Het
Mup2	T	A	4: 60,137,659 (GRCm39)	D128V	probably benign	Het
Nlrp4a	A	G	7: 26,150,219 (GRCm39)	S609G	probably benign	Het
Obscn	T	A	11: 58,898,697 (GRCm39)	Y6554F	unknown	Het
Odf2l	A	G	3: 144,856,495 (GRCm39)		probably benign	Het
Or14j2	A	T	17: 37,885,892 (GRCm39)	C141S	probably damaging	Het
Or1o11	T	C	17: 37,757,180 (GRCm39)	V245A	probably damaging	Het
Or4c104	A	T	2: 88,587,016 (GRCm39)	M1K	probably null	Het
Plod2	G	T	9: 92,424,371 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,541,418 (GRCm39)	V30A	probably benign	Het
Pxdn	T	G	12: 30,056,566 (GRCm39)	L1259R	probably damaging	Het
Rnf6	A	G	5: 146,147,714 (GRCm39)	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,415,724 (GRCm39)		probably null	Het
Scgb2b26	T	C	7: 33,643,833 (GRCm39)	T36A	probably benign	Het
Slc1a7	A	G	4: 107,865,508 (GRCm39)	N332S	probably benign	Het
Slfn5	T	C	11: 82,851,544 (GRCm39)	F614L	probably benign	Het
Smad7	C	A	18: 75,527,119 (GRCm39)	Q322K	probably damaging	Het
Smap1	T	C	1: 23,888,507 (GRCm39)	T253A	probably benign	Het
Socs5	G	T	17: 87,441,138 (GRCm39)	R26L	probably benign	Het
Steap4	A	T	5: 8,026,795 (GRCm39)	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,672,803 (GRCm39)	H142Y	probably benign	Het
Tent5c	A	G	3: 100,380,138 (GRCm39)	F206S	probably benign	Het
Tmem117	G	A	15: 94,992,679 (GRCm39)	M446I	probably benign	Het
Trav7-6	G	A	14: 53,954,550 (GRCm39)	D47N	probably benign	Het
Trim2	C	A	3: 84,100,646 (GRCm39)	A162S	probably damaging	Het
Ttc28	A	G	5: 111,373,596 (GRCm39)	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,425 (GRCm39)	V809A	probably damaging	Het
Wfikkn1	T	A	17: 26,097,071 (GRCm39)	T418S	probably benign	Het
Zbtb41	T	A	1: 139,356,919 (GRCm39)	D391E	possibly damaging	Het
Zfp109	G	A	7: 23,928,635 (GRCm39)	S266F	probably damaging	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
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'- AAAGGCCTTTCTTTCCGCTCAG -3'
(R):5'- ACAAACCAATCAGTGCTCATATGTG -3'

Sequencing Primer
(F):5'- CTCAGGTTCTCTTGGATAAAGCAG -3'
(R):5'- CCTCCCGAGTGCTAGGATTAAAG -3'

Posted On

2020-07-13