Mutagenetix > Incidental Mutation

Incidental Mutation 'R4440:Ndufaf5'

329706

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf5

Ensembl Gene

ENSMUSG00000027384

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 5

Synonyms

2310003L22Rik

MMRRC Submission

041705-MU

Accession Numbers

Essential gene?

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

Stock #

R4440 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

140012569-140045609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140012645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 5 (V5D)

Ref Sequence

ENSEMBL: ENSMUSP00000035325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044825] [ENSMUST00000046030]

AlphaFold

A2APY7

Predicted Effect

probably benign
Transcript: ENSMUST00000044825
AA Change: V5D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: V5D

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

probably benign
Transcript: ENSMUST00000046030

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624

Domain	Start	End	E-Value	Type
coiled coil region	91	114	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	230	258	N/A	INTRINSIC
coiled coil region	261	293	N/A	INTRINSIC
low complexity region	539	552	N/A	INTRINSIC
coiled coil region	628	652	N/A	INTRINSIC
low complexity region	667	692	N/A	INTRINSIC
low complexity region	730	740	N/A	INTRINSIC
Pfam:NUC153	753	781	4.1e-15	PFAM
low complexity region	784	798	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125913

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (46/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	G	T	2: 168,026,721 (GRCm39)	H191Q	possibly damaging	Het
Afdn	T	C	17: 14,071,152 (GRCm39)	W782R	probably damaging	Het
Alpl	A	T	4: 137,475,124 (GRCm39)	W270R	probably damaging	Het
Angpt4	G	T	2: 151,786,566 (GRCm39)	G508C	probably damaging	Het
Armc8	T	A	9: 99,366,087 (GRCm39)	H609L	probably benign	Het
Atg2a	T	C	19: 6,305,859 (GRCm39)		probably null	Het
Bicdl2	C	T	17: 23,886,590 (GRCm39)	A393V	probably benign	Het
C6	A	T	15: 4,764,733 (GRCm39)	K143M	possibly damaging	Het
Cfc1	T	A	1: 34,583,183 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 64,096,714 (GRCm39)	I417M	probably benign	Het
Dnhd1	G	A	7: 105,345,935 (GRCm39)	W2307*	probably null	Het
Dpysl5	T	C	5: 30,949,612 (GRCm39)	F461L	probably damaging	Het
Fip1l1	T	C	5: 74,697,446 (GRCm39)		probably benign	Het
Fpgs	C	T	2: 32,577,513 (GRCm39)	C219Y	probably damaging	Het
Fsip2	A	G	2: 82,821,550 (GRCm39)	D5761G	possibly damaging	Het
Hdac4	C	A	1: 91,873,717 (GRCm39)	G957C	probably damaging	Het
Klhl8	A	G	5: 104,015,433 (GRCm39)	I421T	probably benign	Het
Kntc1	T	C	5: 123,932,216 (GRCm39)	C1337R	probably damaging	Het
Lpin3	A	G	2: 160,740,565 (GRCm39)	N370S	probably benign	Het
Man2a2	C	A	7: 80,001,463 (GRCm39)	R1148L	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nav2	C	T	7: 49,201,785 (GRCm39)	T1453I	possibly damaging	Het
Nav2	A	G	7: 49,225,011 (GRCm39)		probably benign	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Ntrk2	G	C	13: 59,208,126 (GRCm39)	Q657H	probably damaging	Het
Or4a75	G	T	2: 89,448,512 (GRCm39)	T8K	probably damaging	Het
Or4c107	G	A	2: 88,789,685 (GRCm39)	E292K	probably benign	Het
Polr1a	A	G	6: 71,927,832 (GRCm39)	D861G	probably damaging	Het
Pramel15	A	T	4: 144,099,437 (GRCm39)	F443I	probably benign	Het
Pwwp2b	T	C	7: 138,835,555 (GRCm39)	I332T	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Slc14a2	A	G	18: 78,238,962 (GRCm39)	V219A	probably benign	Het
Slc7a2	T	C	8: 41,355,686 (GRCm39)	I245T	probably benign	Het
Smok3c	T	A	5: 138,062,866 (GRCm39)	Y118N	possibly damaging	Het
Taok2	C	T	7: 126,465,693 (GRCm39)	R367Q	possibly damaging	Het
Tbl1xr1	A	G	3: 22,254,752 (GRCm39)		probably null	Het
Tbr1	A	T	2: 61,635,182 (GRCm39)	D44V	possibly damaging	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Vmn1r231	T	C	17: 21,110,718 (GRCm39)	R66G	possibly damaging	Het
Xab2	T	C	8: 3,666,353 (GRCm39)	E185G	probably benign	Het

Other mutations in Ndufaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Ndufaf5	APN	2	140,030,663 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGGCTACTCACAAATCCC -3'
(R):5'- CAAATTTCATGGGGTCGGGC -3'

Sequencing Primer
(F):5'- ATCCCAGTCTGAGTTCACATGGAG -3'
(R):5'- GTCGAAGATGTTTAGGGC -3'

Posted On

2015-07-21