Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00931:Ndufs3'

26908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufs3

Ensembl Gene

ENSMUSG00000005510

Gene Name

NADH:ubiquinone oxidoreductase core subunit S3

Synonyms

0610010M09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00931

Quality Score

Status

Chromosome

Chromosomal Location

90724971-90735065 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 90732846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000090682] [ENSMUST00000111464]

AlphaFold

Q9DCT2

Predicted Effect

probably benign
Transcript: ENSMUST00000005647
AA Change: L80P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510
AA Change: L80P

Domain	Start	End	E-Value	Type
Pfam:Complex1_30kDa	85	207	1.9e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000090682

SMART Domains

Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505

Domain	Start	End	E-Value	Type
BTB	45	142	1.43e-25	SMART
BACK	147	239	6.08e-10	SMART
SCOP:d1k3ia3	279	467	8e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111464

SMART Domains

Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505

Domain	Start	End	E-Value	Type
BTB	61	158	1.43e-25	SMART
BACK	163	255	6.08e-10	SMART
SCOP:d1k3ia3	295	483	9e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140945

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 one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	G	A	9: 71,123,251 (GRCm39)		probably benign	Het
Col24a1	A	G	3: 145,167,225 (GRCm39)	M1101V	probably benign	Het
Cyp4a12a	G	A	4: 115,159,153 (GRCm39)	R141Q	possibly damaging	Het
Ddx60	C	T	8: 62,422,617 (GRCm39)	S618L	probably benign	Het
Dnmt3b	T	A	2: 153,528,170 (GRCm39)		probably benign	Het
Dzip3	A	T	16: 48,755,860 (GRCm39)		probably null	Het
Fads2	A	T	19: 10,043,649 (GRCm39)	D348E	probably benign	Het
Gpcpd1	G	T	2: 132,380,038 (GRCm39)	F434L	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hoxa7	T	C	6: 52,194,286 (GRCm39)	N34D	possibly damaging	Het
Ifitm1	A	T	7: 140,548,169 (GRCm39)	M1L	probably damaging	Het
Lama2	G	A	10: 26,882,772 (GRCm39)	S605L	possibly damaging	Het
Myh7b	A	G	2: 155,472,212 (GRCm39)	D1261G	probably damaging	Het
Nedd4l	T	C	18: 65,305,470 (GRCm39)	I297T	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,342 (GRCm39)	V586A	probably damaging	Het
Slc1a2	T	A	2: 102,586,457 (GRCm39)	W354R	probably damaging	Het
Slc35c1	T	C	2: 92,289,239 (GRCm39)	D89G	probably benign	Het
Tcaf3	T	C	6: 42,574,162 (GRCm39)	T17A	probably benign	Het
Vmn2r72	T	A	7: 85,398,854 (GRCm39)	M500L	probably benign	Het

Other mutations in Ndufs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0416:Ndufs3	UTSW	2	90,728,732 (GRCm39)	missense	probably damaging	0.99
R1618:Ndufs3	UTSW	2	90,729,016 (GRCm39)	missense	probably benign	0.00
R1796:Ndufs3	UTSW	2	90,729,050 (GRCm39)	nonsense	probably null
R4088:Ndufs3	UTSW	2	90,728,689 (GRCm39)	intron	probably benign
R5022:Ndufs3	UTSW	2	90,729,004 (GRCm39)	missense	probably benign	0.44
R5023:Ndufs3	UTSW	2	90,729,004 (GRCm39)	missense	probably benign	0.44
R5057:Ndufs3	UTSW	2	90,729,004 (GRCm39)	missense	probably benign	0.44
R5439:Ndufs3	UTSW	2	90,732,690 (GRCm39)	splice site	probably null
R6631:Ndufs3	UTSW	2	90,732,744 (GRCm39)	missense	probably damaging	1.00
R8082:Ndufs3	UTSW	2	90,725,208 (GRCm39)	missense	probably damaging	0.98
R8786:Ndufs3	UTSW	2	90,732,778 (GRCm39)	missense	probably benign	0.07
R8969:Ndufs3	UTSW	2	90,732,773 (GRCm39)	missense	probably damaging	0.99
R9035:Ndufs3	UTSW	2	90,725,217 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17