Mutagenetix > Incidental Mutation

Incidental Mutation 'R7393:Ndufaf4'

573578

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf4

Ensembl Gene

ENSMUSG00000028261

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 4

Synonyms

3000003G13Rik, 1110007M04Rik

MMRRC Submission

045475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24898083-24905001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24903177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 122 (M122K)

Ref Sequence

ENSEMBL: ENSMUSP00000117141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]

AlphaFold

Q9D1H6

Predicted Effect

probably benign
Transcript: ENSMUST00000029925

SMART Domains

Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261

Domain	Start	End	E-Value	Type
Pfam:UPF0240	1	169	6.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151249
AA Change: M122K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261
AA Change: M122K

Domain	Start	End	E-Value	Type
Pfam:UPF0240	1	116	2.4e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abi2	T	C	1: 60,473,541 (GRCm39)	M86T	possibly damaging	Het
Adam26a	T	C	8: 44,022,725 (GRCm39)	N255S	probably benign	Het
Adam4	G	A	12: 81,466,434 (GRCm39)	S729L	probably benign	Het
Adcy1	G	T	11: 7,087,381 (GRCm39)	W418C	probably damaging	Het
Add2	T	A	6: 86,075,629 (GRCm39)	Y259*	probably null	Het
Agl	A	T	3: 116,584,805 (GRCm39)	C172S	probably benign	Het
Ankfy1	A	G	11: 72,629,134 (GRCm39)	T319A	possibly damaging	Het
Armc8	A	T	9: 99,366,052 (GRCm39)	C621S	possibly damaging	Het
Atp5mj	A	G	12: 111,929,711 (GRCm39)	V26A	probably benign	Het
Bbc3	A	G	7: 16,047,714 (GRCm39)	D146G	probably benign	Het
Btnl10	T	C	11: 58,814,532 (GRCm39)	L404P	probably damaging	Het
Cbl	A	G	9: 44,065,485 (GRCm39)		probably null	Het
Ccdc170	T	A	10: 4,464,314 (GRCm39)		probably null	Het
Ccdc91	T	A	6: 147,435,527 (GRCm39)	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,937,045 (GRCm39)	T343K	probably benign	Het
Chfr	T	A	5: 110,300,224 (GRCm39)	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,136,756 (GRCm39)	M370L	probably benign	Het
Col11a1	A	G	3: 113,890,755 (GRCm39)	D364G	unknown	Het
Ctbp2	A	G	7: 132,590,021 (GRCm39)	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,099,393 (GRCm39)	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,280,354 (GRCm39)	D382G	probably benign	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam234a	T	C	17: 26,435,598 (GRCm39)	D262G	probably benign	Het
Fnbp4	C	A	2: 90,609,660 (GRCm39)	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,475,443 (GRCm39)	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,694,698 (GRCm39)	T172S	unknown	Het
Hamp2	A	T	7: 30,622,030 (GRCm39)	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,308,314 (GRCm39)	D246G	probably damaging	Het
Kctd20	T	C	17: 29,182,312 (GRCm39)	F209L	probably damaging	Het
Klra2	T	C	6: 131,207,165 (GRCm39)	Y148C	probably damaging	Het
Krtap15-1	T	C	16: 88,625,985 (GRCm39)		probably null	Het
Mrps23	T	C	11: 88,095,284 (GRCm39)	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo7a	G	A	7: 97,712,906 (GRCm39)	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,443,493 (GRCm39)	S1183P	probably damaging	Het
Nop2	C	A	6: 125,110,509 (GRCm39)	S45*	probably null	Het
Nop56	T	A	2: 130,116,558 (GRCm39)	L3Q	probably benign	Het
Nrp2	T	C	1: 62,784,583 (GRCm39)	I244T	probably damaging	Het
Or4d10c	T	A	19: 12,065,992 (GRCm39)	T55S	probably benign	Het
Or51v14	A	G	7: 103,261,198 (GRCm39)	S121P	possibly damaging	Het
Otof	T	C	5: 30,527,614 (GRCm39)	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,830,712 (GRCm39)	K387E	probably benign	Het
Plcg2	A	G	8: 118,306,564 (GRCm39)	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,805,188 (GRCm39)	P333S	probably damaging	Het
Rcc2	A	G	4: 140,444,341 (GRCm39)	D344G	probably damaging	Het
Reln	A	T	5: 22,181,349 (GRCm39)	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,151,149 (GRCm39)	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scg2	T	C	1: 79,412,948 (GRCm39)	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,667,872 (GRCm39)	I190V	probably benign	Het
Sele	C	A	1: 163,881,492 (GRCm39)	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,072,170 (GRCm39)	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,841,093 (GRCm39)	S106P	probably benign	Het
Spidr	C	T	16: 15,964,695 (GRCm39)		probably benign	Het
Stk36	A	T	1: 74,650,352 (GRCm39)	K295*	probably null	Het
Synj1	A	T	16: 90,748,887 (GRCm39)	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,210 (GRCm39)	S1046P	probably benign	Het
Ttc27	T	G	17: 75,077,259 (GRCm39)	F385V	possibly damaging	Het
Ttn	C	A	2: 76,774,689 (GRCm39)	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764 (GRCm39)	L326*	probably null	Het
Ubr4	A	G	4: 139,154,096 (GRCm39)	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,570,778 (GRCm39)	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,574 (GRCm39)	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,605,099 (GRCm39)	I137M	probably benign	Het
Vmn2r67	A	T	7: 84,805,086 (GRCm39)	W9R	probably null	Het
Zfp101	T	C	17: 33,605,674 (GRCm39)	N45D	possibly damaging	Het

Other mutations in Ndufaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03001:Ndufaf4	APN	4	24,901,747 (GRCm39)	missense	probably benign	0.44
R2128:Ndufaf4	UTSW	4	24,898,608 (GRCm39)	missense	probably damaging	1.00
R2129:Ndufaf4	UTSW	4	24,898,608 (GRCm39)	missense	probably damaging	1.00
R5666:Ndufaf4	UTSW	4	24,898,636 (GRCm39)	missense	probably damaging	1.00
R5670:Ndufaf4	UTSW	4	24,898,636 (GRCm39)	missense	probably damaging	1.00
R6021:Ndufaf4	UTSW	4	24,901,760 (GRCm39)	missense	probably benign	0.02
R7519:Ndufaf4	UTSW	4	24,901,847 (GRCm39)	missense	probably damaging	0.99
R7586:Ndufaf4	UTSW	4	24,901,829 (GRCm39)	missense	probably damaging	0.98
R7997:Ndufaf4	UTSW	4	24,901,919 (GRCm39)	missense	probably benign	0.01
R8201:Ndufaf4	UTSW	4	24,898,197 (GRCm39)	missense	possibly damaging	0.94
R8245:Ndufaf4	UTSW	4	24,898,648 (GRCm39)	missense	probably benign	0.18
R9733:Ndufaf4	UTSW	4	24,903,177 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGGGTGTCTACAAAACACAC -3'
(R):5'- GGCACTTTCCACCATAATCAGC -3'

Sequencing Primer
(F):5'- CCTGTAGTTTATGATGCAAGGAAGCC -3'
(R):5'- GCAATGATTGGAATTAGTAGGTTCCC -3'

Posted On

2019-09-13