Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Ndufaf5'

283917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufaf5

Ensembl Gene

ENSMUSG00000027384

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 5

Synonyms

2310003L22Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

140012569-140045609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140030663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000035325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044825]

AlphaFold

A2APY7

Predicted Effect

probably benign
Transcript: ENSMUST00000044825
AA Change: V183A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: V183A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Methyltransf_29	45	196	7.1e-8	PFAM
Pfam:Methyltransf_23	53	239	6.4e-16	PFAM
Pfam:Ubie_methyltran	78	204	3e-10	PFAM
Pfam:Methyltransf_18	89	187	1.1e-8	PFAM
Pfam:Methyltransf_31	92	243	9.6e-13	PFAM
Pfam:Methyltransf_25	93	182	1.3e-9	PFAM
Pfam:Methyltransf_12	94	184	2.4e-14	PFAM
Pfam:Methyltransf_11	94	186	6.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125913

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Ndufaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0373:Ndufaf5	UTSW	2	140,012,801 (GRCm39)	missense	probably benign	0.03
R1654:Ndufaf5	UTSW	2	140,019,220 (GRCm39)	splice site	probably null
R1710:Ndufaf5	UTSW	2	140,035,522 (GRCm39)	missense	possibly damaging	0.92
R1868:Ndufaf5	UTSW	2	140,023,509 (GRCm39)	missense	probably benign	0.00
R2226:Ndufaf5	UTSW	2	140,030,780 (GRCm39)	missense	probably benign	0.02
R3794:Ndufaf5	UTSW	2	140,044,843 (GRCm39)	missense	possibly damaging	0.89
R4440:Ndufaf5	UTSW	2	140,012,645 (GRCm39)	missense	probably benign	0.00
R4621:Ndufaf5	UTSW	2	140,025,845 (GRCm39)	missense	probably benign	0.02
R4669:Ndufaf5	UTSW	2	140,029,675 (GRCm39)	missense	probably benign	0.11
R5683:Ndufaf5	UTSW	2	140,044,843 (GRCm39)	missense	possibly damaging	0.89
R6904:Ndufaf5	UTSW	2	140,030,700 (GRCm39)	nonsense	probably null
R6937:Ndufaf5	UTSW	2	140,023,522 (GRCm39)	missense	probably damaging	1.00
R8302:Ndufaf5	UTSW	2	140,030,698 (GRCm39)	missense	possibly damaging	0.93
R8539:Ndufaf5	UTSW	2	140,025,894 (GRCm39)	missense	possibly damaging	0.69
R8855:Ndufaf5	UTSW	2	140,025,840 (GRCm39)	missense	possibly damaging	0.95
R9328:Ndufaf5	UTSW	2	140,030,752 (GRCm39)	missense	possibly damaging	0.46
R9333:Ndufaf5	UTSW	2	140,035,513 (GRCm39)	missense	probably benign	0.29
R9731:Ndufaf5	UTSW	2	140,012,807 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-04-16