Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01116:Ndufaf3'

51952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf3

Ensembl Gene

ENSMUSG00000070283

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 3

Synonyms

4733401H18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL01116

Quality Score

Status

Chromosome

Chromosomal Location

108442786-108444635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108444068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 20 (R20Q)

Ref Sequence

ENSEMBL: ENSMUSP00000073832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000195249] [ENSMUST00000193421] [ENSMUST00000193427] [ENSMUST00000194381] [ENSMUST00000194904]

AlphaFold

Q9JKL4

Predicted Effect

probably benign
Transcript: ENSMUST00000019183

SMART Domains

Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	288	301	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
DALR_1	399	538	2.09e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074208
AA Change: R20Q

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
AA Change: R20Q

Domain	Start	End	E-Value	Type
Pfam:DUF498	61	169	9.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081111

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194365

Predicted Effect

probably benign
Transcript: ENSMUST00000195249

Predicted Effect

probably benign
Transcript: ENSMUST00000193421

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	248	1.3e-18	SMART
CBS	92	143	4.5e-9	SMART
CBS	159	207	7.6e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193427

SMART Domains

Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

Domain	Start	End	E-Value	Type
low complexity region	55	66	N/A	INTRINSIC
DALR_1	68	171	1.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194381

Predicted Effect

probably benign
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195456

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,911 (GRCm39)	M951L	probably benign	Het
Als2	T	C	1: 59,225,163 (GRCm39)		probably benign	Het
Arhgap26	T	C	18: 39,244,856 (GRCm39)	V167A	probably damaging	Het
Bbs1	A	G	19: 4,952,867 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,949,806 (GRCm39)		probably benign	Het
Cenpl	G	T	1: 160,910,857 (GRCm39)	S268I	possibly damaging	Het
Coq8b	T	C	7: 26,939,282 (GRCm39)	V144A	possibly damaging	Het
Exo1	T	A	1: 175,728,963 (GRCm39)	C10S	possibly damaging	Het
Fam193b	A	T	13: 55,691,266 (GRCm39)	S203T	probably damaging	Het
Ggact	T	C	14: 123,129,167 (GRCm39)	N16S	probably damaging	Het
Gm3940	A	T	1: 52,129,882 (GRCm39)		probably benign	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Golm1	T	C	13: 59,797,470 (GRCm39)	K125R	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria1	A	G	11: 57,127,801 (GRCm39)	N337D	probably damaging	Het
Gripap1	G	A	X: 7,678,705 (GRCm39)	G464D	probably benign	Het
Grk1	A	G	8: 13,455,404 (GRCm39)	D96G	possibly damaging	Het
Hsf1	T	C	15: 76,382,403 (GRCm39)	V258A	probably benign	Het
Ighv7-4	A	G	12: 114,186,653 (GRCm39)	S40P	probably damaging	Het
Igkv4-50	G	A	6: 69,677,921 (GRCm39)	S61L	probably benign	Het
Igkv4-62	C	T	6: 69,377,035 (GRCm39)	G38E	probably damaging	Het
Ints1	T	C	5: 139,757,437 (GRCm39)	D358G	probably damaging	Het
Madd	A	G	2: 90,984,888 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,974,439 (GRCm39)	S580G	probably damaging	Het
Myef2	A	G	2: 124,940,402 (GRCm39)	M383T	probably damaging	Het
Myo3b	T	C	2: 70,119,730 (GRCm39)	L930P	probably damaging	Het
Npr2	T	C	4: 43,640,248 (GRCm39)	S328P	probably damaging	Het
Or1r1	A	T	11: 73,875,144 (GRCm39)	C97S	probably damaging	Het
Or4k15b	T	A	14: 50,272,507 (GRCm39)	M118L	probably benign	Het
Pdpr	T	C	8: 111,839,342 (GRCm39)	I155T	possibly damaging	Het
Phf11b	A	T	14: 59,560,631 (GRCm39)	I216K	probably benign	Het
Phkg1	T	C	5: 129,893,813 (GRCm39)		probably null	Het
Pik3r6	A	G	11: 68,422,276 (GRCm39)	Y225C	probably benign	Het
Plekhh2	A	T	17: 84,914,356 (GRCm39)	D1253V	possibly damaging	Het
Plppr3	T	C	10: 79,702,757 (GRCm39)	T155A	probably damaging	Het
Ppp6r2	T	C	15: 89,166,192 (GRCm39)	F732S	probably damaging	Het
Ryr1	A	G	7: 28,799,627 (GRCm39)		probably benign	Het
Slc16a8	T	G	15: 79,135,432 (GRCm39)	S459R	probably damaging	Het
Slc25a12	A	T	2: 71,123,696 (GRCm39)		probably benign	Het
Slc38a2	T	C	15: 96,591,066 (GRCm39)		probably benign	Het
Slit1	C	A	19: 41,594,824 (GRCm39)	W1182L	possibly damaging	Het
Snx2	C	T	18: 53,327,495 (GRCm39)		probably benign	Het
Sos1	A	T	17: 80,752,929 (GRCm39)	V335D	probably damaging	Het
St18	A	G	1: 6,872,856 (GRCm39)	D197G	probably damaging	Het
Ston2	G	T	12: 91,615,522 (GRCm39)	N295K	possibly damaging	Het
Stpg3	A	G	2: 25,103,191 (GRCm39)		probably benign	Het
Tmem63a	A	G	1: 180,799,654 (GRCm39)	I675V	probably damaging	Het
Vmn2r16	T	A	5: 109,488,294 (GRCm39)	L389Q	probably damaging	Het
Vps13d	C	A	4: 144,699,320 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,934 (GRCm39)	D3012E	probably damaging	Het

Other mutations in Ndufaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0594:Ndufaf3	UTSW	9	108,444,122 (GRCm39)	missense	probably benign	0.01
R1295:Ndufaf3	UTSW	9	108,443,892 (GRCm39)	missense	probably damaging	1.00
R1782:Ndufaf3	UTSW	9	108,443,210 (GRCm39)	missense	probably damaging	1.00
R2125:Ndufaf3	UTSW	9	108,443,936 (GRCm39)	missense	probably benign	0.16
R3803:Ndufaf3	UTSW	9	108,444,092 (GRCm39)	missense	probably benign	0.00
R5470:Ndufaf3	UTSW	9	108,443,643 (GRCm39)	unclassified	probably benign
R6601:Ndufaf3	UTSW	9	108,443,416 (GRCm39)	missense	probably benign	0.01
R7396:Ndufaf3	UTSW	9	108,443,802 (GRCm39)	missense	probably damaging	0.96
R7454:Ndufaf3	UTSW	9	108,444,125 (GRCm39)	start codon destroyed	probably null	0.69
R8298:Ndufaf3	UTSW	9	108,444,120 (GRCm39)	missense	probably benign
R8425:Ndufaf3	UTSW	9	108,444,182 (GRCm39)	unclassified	probably benign
R9348:Ndufaf3	UTSW	9	108,443,357 (GRCm39)	critical splice donor site	probably null
R9731:Ndufaf3	UTSW	9	108,443,158 (GRCm39)	makesense	probably null

Posted On

2013-06-21