Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01715:Ndufa7'

104910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufa7

Ensembl Gene

ENSMUSG00000041881

Gene Name

NADH:ubiquinone oxidoreductase subunit A7

Synonyms

NADH oxidoreductase, 14.5kDa, 2400007M02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL01715

Quality Score

Status

Chromosome

Chromosomal Location

34043546-34057290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34057122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 101 (M101L)

Ref Sequence

ENSEMBL: ENSMUSP00000039692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002379] [ENSMUST00000048249] [ENSMUST00000173132]

AlphaFold

Q9Z1P6

Predicted Effect

probably benign
Transcript: ENSMUST00000002379

SMART Domains

Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LDLa	46	84	1.16e-14	SMART
LDLa	123	161	4.24e-8	SMART
transmembrane domain	207	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048249
AA Change: M101L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881
AA Change: M101L

Domain	Start	End	E-Value	Type
Pfam:CI-B14_5a	5	102	2.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174847

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. Complex I has been biochemically separated into four fractions. The bovine ortholog of this protein has been reported to be part of the I-lambda fraction, which forms the extrinsic globular domain. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. Pseudogenes of this gene are located on chromosomes 7 and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,258,182 (GRCm39)	N498D	possibly damaging	Het
Ap5s1	T	C	2: 131,053,293 (GRCm39)	S26P	probably damaging	Het
Apaf1	T	C	10: 90,894,216 (GRCm39)	Y473C	probably benign	Het
Cdc42ep4	C	T	11: 113,620,268 (GRCm39)	G41D	probably damaging	Het
Ddx42	T	A	11: 106,115,101 (GRCm39)	Y60N	probably damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Drd3	T	A	16: 43,641,631 (GRCm39)	L316M	probably damaging	Het
Hadha	C	T	5: 30,325,082 (GRCm39)	G703R	probably damaging	Het
Lrrc74a	A	C	12: 86,801,189 (GRCm39)	M347L	probably benign	Het
Macf1	G	T	4: 123,284,879 (GRCm39)	Q4208K	probably damaging	Het
Myh15	C	T	16: 48,877,847 (GRCm39)		probably benign	Het
Pla2g6	A	G	15: 79,202,057 (GRCm39)	V38A	probably benign	Het
Sar1a	A	G	10: 61,521,406 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,378 (GRCm39)	T246A	probably damaging	Het
Sds	C	T	5: 120,617,272 (GRCm39)	R43*	probably null	Het
Slc9a9	A	G	9: 94,842,499 (GRCm39)	Y350C	probably damaging	Het
Strc	T	A	2: 121,196,218 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,555,890 (GRCm39)	V108A	probably damaging	Het
Vmn2r111	G	T	17: 22,788,054 (GRCm39)		probably benign	Het
Wnk1	G	A	6: 119,925,358 (GRCm39)	P1369S	probably damaging	Het
Zfhx4	T	A	3: 5,307,105 (GRCm39)	D110E	probably benign	Het
Zfp462	A	G	4: 55,008,586 (GRCm39)	Y184C	probably benign	Het

Other mutations in Ndufa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Ndufa7	APN	17	34,048,786 (GRCm39)	nonsense	probably null
IGL02902:Ndufa7	APN	17	34,048,632 (GRCm39)	splice site	probably benign
R4799:Ndufa7	UTSW	17	34,057,187 (GRCm39)	utr 3 prime	probably benign
R5023:Ndufa7	UTSW	17	34,043,577 (GRCm39)	unclassified	probably benign
R7302:Ndufa7	UTSW	17	34,048,687 (GRCm39)	missense	probably benign	0.02
R7459:Ndufa7	UTSW	17	34,057,140 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-01-21