Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01871:Ndufaf1'

178727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf1

Ensembl Gene

ENSMUSG00000027305

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

Synonyms

CGI-65, 2410001M24Rik, CIA30

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

119655446-119662827 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 119658287 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 250 (W250*)

Ref Sequence

ENSEMBL: ENSMUSP00000106426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000110801] [ENSMUST00000110802]

Predicted Effect

probably null
Transcript: ENSMUST00000028768
AA Change: W252*

SMART Domains

Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: W252*

Domain	Start	End	E-Value	Type
Pfam:CIA30	128	301	3e-51	PFAM
Pfam:CBM_11	193	315	1.7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110801
AA Change: W250*

SMART Domains

Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: W250*

Domain	Start	End	E-Value	Type
Pfam:CIA30	126	299	1.1e-47	PFAM
Pfam:CBM_11	127	312	1.3e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110802
AA Change: W250*

SMART Domains

Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: W250*

Domain	Start	End	E-Value	Type
Pfam:CIA30	126	299	1.1e-47	PFAM
Pfam:CBM_11	127	312	1.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154127

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 complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,472,394		probably null	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Asxl2	G	T	12: 3,502,112	V1285L	probably benign	Het
Bdp1	A	T	13: 100,066,053	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,688,969	I357F	probably damaging	Het
Clasp1	A	T	1: 118,570,889	I884F	probably damaging	Het
Cpne4	T	G	9: 104,925,757	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,403,885	D180V	probably damaging	Het
Dicer1	A	T	12: 104,704,180	V1042D	probably damaging	Het
Dlc1	G	A	8: 36,850,180	T447I	probably damaging	Het
Efl1	T	C	7: 82,763,319	M972T	possibly damaging	Het
Erbin	A	G	13: 103,834,766	S781P	probably damaging	Het
Fam46b	A	G	4: 133,486,309	I164V	possibly damaging	Het
Galnt4	G	A	10: 99,109,241	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gmppa	A	G	1: 75,437,017	I41V	probably damaging	Het
Golga1	C	T	2: 39,050,198		probably benign	Het
H2-Ob	G	T	17: 34,242,545	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,339,574	R482H	unknown	Het
L2hgdh	T	C	12: 69,722,095	E81G	probably damaging	Het
Mre11a	T	C	9: 14,811,897	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,842,801	T372A	probably benign	Het
Ncapg	T	A	5: 45,688,581	S593R	probably benign	Het
Neb	T	C	2: 52,153,069	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,312,674	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,662,355		probably benign	Het
Pitpnm3	T	A	11: 72,056,138	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,134,473		probably benign	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,198,360	T392A	possibly damaging	Het
Rhov	G	T	2: 119,270,738	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,860,794		probably benign	Het
Spaca1	T	A	4: 34,040,894	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,289,713	E107G	probably damaging	Het
Timm22	T	C	11: 76,407,437	V78A	probably damaging	Het
Usp47	T	C	7: 112,077,786		probably benign	Het
Utp4	A	C	8: 106,912,317	K419T	probably benign	Het
Zfp410	T	C	12: 84,325,791		probably null	Het

Other mutations in Ndufaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Ndufaf1	APN	2	119660469	missense	probably damaging	1.00
IGL02452:Ndufaf1	APN	2	119656426	missense	probably damaging	1.00
IGL03087:Ndufaf1	APN	2	119655799	splice site	probably benign
R1211:Ndufaf1	UTSW	2	119655675	missense	probably damaging	1.00
R2420:Ndufaf1	UTSW	2	119655737	missense	probably damaging	1.00
R2421:Ndufaf1	UTSW	2	119655737	missense	probably damaging	1.00
R2422:Ndufaf1	UTSW	2	119655737	missense	probably damaging	1.00
R3824:Ndufaf1	UTSW	2	119660271	missense	probably benign	0.30
R4942:Ndufaf1	UTSW	2	119660066	missense	possibly damaging	0.83
R5382:Ndufaf1	UTSW	2	119660412	missense	possibly damaging	0.75
R5460:Ndufaf1	UTSW	2	119660477	missense	probably benign	0.02
R5732:Ndufaf1	UTSW	2	119660040	nonsense	probably null
R5777:Ndufaf1	UTSW	2	119660482	nonsense	probably null
R5919:Ndufaf1	UTSW	2	119660228	missense	possibly damaging	0.51
R6371:Ndufaf1	UTSW	2	119660053	missense	probably damaging	1.00
R6378:Ndufaf1	UTSW	2	119655726	missense	probably damaging	0.99
R7202:Ndufaf1	UTSW	2	119658426	missense	probably benign	0.39
R7224:Ndufaf1	UTSW	2	119658396	missense	probably damaging	1.00
R7847:Ndufaf1	UTSW	2	119660053	missense	probably damaging	1.00
R8208:Ndufaf1	UTSW	2	119660346	missense	probably benign	0.01
R8319:Ndufaf1	UTSW	2	119660087	missense	probably damaging	1.00

Posted On

2014-05-07