Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Ndufaf1'

418178

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf1

Ensembl Gene

ENSMUSG00000027305

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 1

Synonyms

2410001M24Rik, CIA30, CGI-65

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

119485927-119493302 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 119486280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000028771] [ENSMUST00000110801] [ENSMUST00000110802]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028768

SMART Domains

Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305

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 benign
Transcript: ENSMUST00000028771

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	119	129	N/A	INTRINSIC
coiled coil region	360	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110801

SMART Domains

Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305

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 benign
Transcript: ENSMUST00000110802

SMART Domains

Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	Het

Other mutations in Ndufaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Ndufaf1	APN	2	119,490,950 (GRCm39)	missense	probably damaging	1.00
IGL01871:Ndufaf1	APN	2	119,488,768 (GRCm39)	nonsense	probably null
IGL02452:Ndufaf1	APN	2	119,486,907 (GRCm39)	missense	probably damaging	1.00
R1211:Ndufaf1	UTSW	2	119,486,156 (GRCm39)	missense	probably damaging	1.00
R2420:Ndufaf1	UTSW	2	119,486,218 (GRCm39)	missense	probably damaging	1.00
R2421:Ndufaf1	UTSW	2	119,486,218 (GRCm39)	missense	probably damaging	1.00
R2422:Ndufaf1	UTSW	2	119,486,218 (GRCm39)	missense	probably damaging	1.00
R3824:Ndufaf1	UTSW	2	119,490,752 (GRCm39)	missense	probably benign	0.30
R4942:Ndufaf1	UTSW	2	119,490,547 (GRCm39)	missense	possibly damaging	0.83
R5382:Ndufaf1	UTSW	2	119,490,893 (GRCm39)	missense	possibly damaging	0.75
R5460:Ndufaf1	UTSW	2	119,490,958 (GRCm39)	missense	probably benign	0.02
R5732:Ndufaf1	UTSW	2	119,490,521 (GRCm39)	nonsense	probably null
R5777:Ndufaf1	UTSW	2	119,490,963 (GRCm39)	nonsense	probably null
R5919:Ndufaf1	UTSW	2	119,490,709 (GRCm39)	missense	possibly damaging	0.51
R6371:Ndufaf1	UTSW	2	119,490,534 (GRCm39)	missense	probably damaging	1.00
R6378:Ndufaf1	UTSW	2	119,486,207 (GRCm39)	missense	probably damaging	0.99
R7202:Ndufaf1	UTSW	2	119,488,907 (GRCm39)	missense	probably benign	0.39
R7224:Ndufaf1	UTSW	2	119,488,877 (GRCm39)	missense	probably damaging	1.00
R7847:Ndufaf1	UTSW	2	119,490,534 (GRCm39)	missense	probably damaging	1.00
R8208:Ndufaf1	UTSW	2	119,490,827 (GRCm39)	missense	probably benign	0.01
R8319:Ndufaf1	UTSW	2	119,490,568 (GRCm39)	missense	probably damaging	1.00
R9236:Ndufaf1	UTSW	2	119,490,712 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02