Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Ndufaf4'

407349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf4

Ensembl Gene

ENSMUSG00000028261

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 4

Synonyms

3000003G13Rik, 1110007M04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

24898083-24905001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24901747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 95 (N95K)

Ref Sequence

ENSEMBL: ENSMUSP00000117141 (fasta)

Gene Model

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

AlphaFold

Q9D1H6

Predicted Effect

probably benign
Transcript: ENSMUST00000029925
AA Change: N98K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: N98K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146721

Predicted Effect

probably benign
Transcript: ENSMUST00000151249
AA Change: N95K

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261
AA Change: N95K

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

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,761,042 (GRCm39)	D1918A	probably damaging	Het
Ahcy	C	A	2: 154,906,748 (GRCm39)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm39)	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602 (GRCm39)	M53L	probably benign	Het
Aqr	T	C	2: 113,977,400 (GRCm39)	D363G	probably benign	Het
Asxl3	A	G	18: 22,650,455 (GRCm39)	R815G	probably damaging	Het
Atf4	T	A	15: 80,140,858 (GRCm39)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,969,896 (GRCm39)	M587K	possibly damaging	Het
Btbd8	T	C	5: 107,645,708 (GRCm39)	I9T	probably damaging	Het
Cactin	T	A	10: 81,161,568 (GRCm39)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,424,504 (GRCm39)	S95G	probably benign	Het
Cd1d1	C	T	3: 86,905,468 (GRCm39)	S175N	probably benign	Het
Chd4	C	A	6: 125,078,529 (GRCm39)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,175,554 (GRCm39)		probably null	Het
Cntnap5c	G	A	17: 58,362,634 (GRCm39)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,719,040 (GRCm39)	D238V	unknown	Het
Cuedc1	T	C	11: 88,073,315 (GRCm39)	V160A	probably benign	Het
Depdc5	T	C	5: 33,102,434 (GRCm39)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,126,123 (GRCm39)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,710,891 (GRCm39)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,545,374 (GRCm39)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,056,712 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,934,680 (GRCm38)	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,820,968 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,716,113 (GRCm39)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,308,586 (GRCm39)		probably benign	Het
Lingo4	C	T	3: 94,309,703 (GRCm39)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,817,901 (GRCm39)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,100,450 (GRCm39)	L342P	probably damaging	Het
Mmp15	T	C	8: 96,094,845 (GRCm39)	S240P	probably damaging	Het
Nms	C	T	1: 38,980,993 (GRCm39)	P60S	probably benign	Het
Npas3	A	T	12: 53,547,975 (GRCm39)	Y77F	probably damaging	Het
Or2ak7	T	G	11: 58,574,702 (GRCm39)	M1R	probably null	Het
Or51f5	G	T	7: 102,424,460 (GRCm39)	C243F	probably damaging	Het
Or5d43	T	A	2: 88,105,189 (GRCm39)	D68V	probably damaging	Het
Or8d2b	A	G	9: 38,789,374 (GRCm39)	M301V	probably benign	Het
Or9m2	T	A	2: 87,820,493 (GRCm39)	Y13N	probably benign	Het
Or9s27	T	A	1: 92,516,273 (GRCm39)	S74T	probably damaging	Het
Picalm	T	C	7: 89,831,454 (GRCm39)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,421,400 (GRCm39)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,134,338 (GRCm39)	M286I	probably benign	Het
Popdc2	A	T	16: 38,189,881 (GRCm39)	Y176F	probably benign	Het
Psg21	A	T	7: 18,386,410 (GRCm39)	M192K	probably benign	Het
Psma1	C	A	7: 113,865,674 (GRCm39)	A219S	probably benign	Het
Rad21l	T	G	2: 151,510,389 (GRCm39)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,370,767 (GRCm39)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,712,452 (GRCm39)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,291,057 (GRCm39)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,218,858 (GRCm39)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 24,040,767 (GRCm39)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,184,159 (GRCm39)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,383,827 (GRCm39)	I173V	probably benign	Het
Synpo2	T	C	3: 122,873,604 (GRCm39)	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,426,302 (GRCm39)	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,216,455 (GRCm39)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,786 (GRCm39)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,647,329 (GRCm39)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,565,267 (GRCm39)	N19993S	probably benign	Het
Vps53	T	C	11: 76,029,150 (GRCm39)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,705,495 (GRCm39)	W69R	probably damaging	Het
Zng1	T	C	19: 24,900,002 (GRCm39)	K301E	probably benign	Het
Zswim8	T	C	14: 20,764,459 (GRCm39)	S610P	probably damaging	Het

Other mutations in Ndufaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7393:Ndufaf4	UTSW	4	24,903,177 (GRCm39)	missense	probably benign	0.00
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

Posted On

2016-08-02