Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Ndufaf7'

231326

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf7

Ensembl Gene

ENSMUSG00000024082

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Synonyms

2410091C18Rik

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79244565-79255481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79252442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 284 (I284F)

Ref Sequence

ENSEMBL: ENSMUSP00000024887 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000024887
AA Change: I284F

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
AA Change: I284F

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

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCAGACCATATTCAAGCTG -3'
(R):5'- AGGCTCTGTGCTAAGAATGAC -3'

Sequencing Primer
(F):5'- GGCCAGACCATATTCAAGCTGAATTC -3'
(R):5'- GCTCTGTGCTAAGAATGACTGTAAG -3'

Posted On

2014-09-18