Mutagenetix > Incidental Mutation

Incidental Mutation 'R1654:Ndufaf5'

188908

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf5

Ensembl Gene

ENSMUSG00000027384

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 5

Synonyms

2310003L22Rik

MMRRC Submission

039690-MU

Accession Numbers

Essential gene?

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

Stock #

R1654 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140012569-140045609 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 140019220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035325 (fasta)

Gene Model

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

AlphaFold

A2APY7

Predicted Effect

probably null
Transcript: ENSMUST00000044825

SMART Domains

Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384

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: ENSMUST00000123078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125913

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	T	11: 109,688,225 (GRCm39)	S90N	probably benign	Het
Apc2	C	T	10: 80,137,676 (GRCm39)	T39I	possibly damaging	Het
Arfgef3	C	T	10: 18,500,896 (GRCm39)	R1118K	probably null	Het
Arhgef12	T	C	9: 42,908,956 (GRCm39)	D658G	possibly damaging	Het
Asph	G	T	4: 9,453,315 (GRCm39)	R736S	probably benign	Het
Bcas1	C	T	2: 170,191,166 (GRCm39)	G542E	probably damaging	Het
Brd8	A	T	18: 34,744,279 (GRCm39)	V183E	probably damaging	Het
C1rl	G	A	6: 124,470,869 (GRCm39)	G59E	probably damaging	Het
Cacna1i	C	A	15: 80,273,411 (GRCm39)	A1699D	probably damaging	Het
Card6	G	T	15: 5,128,214 (GRCm39)	Q1061K	probably benign	Het
Cd163	G	T	6: 124,294,540 (GRCm39)	C566F	probably damaging	Het
Cd84	C	T	1: 171,712,173 (GRCm39)	T263I	possibly damaging	Het
Cep63	T	C	9: 102,464,112 (GRCm39)	I740V	possibly damaging	Het
Chaf1b	C	A	16: 93,691,791 (GRCm39)	A279D	probably damaging	Het
Chsy3	A	T	18: 59,309,488 (GRCm39)	Y247F	probably damaging	Het
Cpxm1	G	A	2: 130,235,466 (GRCm39)	L509F	possibly damaging	Het
Disc1	A	T	8: 125,875,204 (GRCm39)	Q558L	possibly damaging	Het
Dnah3	A	T	7: 119,525,672 (GRCm39)	L3894Q	probably damaging	Het
Dnmt1	G	T	9: 20,847,870 (GRCm39)	T105N	possibly damaging	Het
Dock6	A	T	9: 21,716,139 (GRCm39)	L1732Q	probably damaging	Het
Dsc2	T	C	18: 20,179,303 (GRCm39)	N255S	probably benign	Het
Dsel	A	T	1: 111,790,242 (GRCm39)	Y98N	probably damaging	Het
Enox1	T	A	14: 77,848,814 (GRCm39)	I375N	possibly damaging	Het
Epha4	T	A	1: 77,351,405 (GRCm39)		probably null	Het
Fktn	A	G	4: 53,761,220 (GRCm39)	I446V	probably benign	Het
Garin4	T	C	1: 190,895,678 (GRCm39)	R322G	probably benign	Het
Gm7361	G	T	5: 26,466,097 (GRCm39)	R153L	probably damaging	Het
Grin2c	C	T	11: 115,151,679 (GRCm39)	V94I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Krt80	T	C	15: 101,249,590 (GRCm39)	K255E	probably damaging	Het
Lcn6	T	A	2: 25,570,787 (GRCm39)		probably null	Het
Lonp2	T	G	8: 87,358,078 (GRCm39)	L100V	probably damaging	Het
Lyn	G	A	4: 3,789,912 (GRCm39)	A482T	probably damaging	Het
Mapk4	A	G	18: 74,064,010 (GRCm39)	F404S	probably damaging	Het
Mast2	T	C	4: 116,173,747 (GRCm39)		probably null	Het
Medag	T	C	5: 149,345,600 (GRCm39)	Y94H	probably damaging	Het
Megf8	T	C	7: 25,037,911 (GRCm39)	L809P	possibly damaging	Het
Mgam	T	C	6: 40,734,421 (GRCm39)	S743P	probably damaging	Het
Mia2	C	A	12: 59,155,619 (GRCm39)	T445K	possibly damaging	Het
Mtcl3	A	T	10: 29,022,931 (GRCm39)		probably null	Het
Nars1	C	G	18: 64,645,120 (GRCm39)	A43P	probably damaging	Het
Nav3	T	C	10: 109,688,984 (GRCm39)	N431S	possibly damaging	Het
Nlrp1b	T	G	11: 71,072,124 (GRCm39)	E573A	probably damaging	Het
Nlrp3	T	C	11: 59,433,949 (GRCm39)	V4A	probably benign	Het
Or2y1d	G	A	11: 49,321,329 (GRCm39)	G9R	probably benign	Het
Or56b2	A	T	7: 104,337,420 (GRCm39)	Y66F	probably benign	Het
Or5ac15	T	C	16: 58,940,052 (GRCm39)	N127S	possibly damaging	Het
Pcdhb12	A	T	18: 37,569,754 (GRCm39)	D300V	probably damaging	Het
Pik3c2a	A	T	7: 115,968,083 (GRCm39)	C804S	probably benign	Het
Pkp4	A	T	2: 59,167,963 (GRCm39)	Q725L	probably damaging	Het
Ptpre	T	A	7: 135,255,657 (GRCm39)	S119T	probably benign	Het
Ptprk	G	A	10: 28,259,643 (GRCm39)	R361H	probably damaging	Het
Ptprr	T	C	10: 116,024,268 (GRCm39)	V193A	probably benign	Het
Rfx2	C	T	17: 57,115,263 (GRCm39)	A19T	probably benign	Het
Rgs4	T	A	1: 169,572,880 (GRCm39)	M19L	probably benign	Het
Rnf157	T	C	11: 116,249,541 (GRCm39)	H225R	probably damaging	Het
Rnf44	A	T	13: 54,829,592 (GRCm39)	D341E	possibly damaging	Het
Sct	T	A	7: 140,858,767 (GRCm39)	Q55L	probably damaging	Het
Sh3rf1	A	T	8: 61,814,779 (GRCm39)	H446L	possibly damaging	Het
Shisa3	A	T	5: 67,768,402 (GRCm39)	I101F	probably damaging	Het
Slc6a13	A	G	6: 121,313,885 (GRCm39)	I543V	probably benign	Het
Spef2	G	A	15: 9,634,738 (GRCm39)	A1024V	probably damaging	Het
St6galnac6	T	C	2: 32,509,521 (GRCm39)	S330P	probably damaging	Het
Stard9	G	T	2: 120,534,203 (GRCm39)	A3487S	probably benign	Het
Suclg2	T	C	6: 95,632,532 (GRCm39)	S46G	probably damaging	Het
Syne2	T	C	12: 76,147,868 (GRCm39)	V6469A	possibly damaging	Het
Tada2b	C	T	5: 36,641,139 (GRCm39)	G88D	probably damaging	Het
Tll1	A	T	8: 64,570,937 (GRCm39)		probably null	Het
Tph2	T	A	10: 115,020,712 (GRCm39)	H28L	probably benign	Het
Trmt6	C	A	2: 132,657,755 (GRCm39)	V34L	possibly damaging	Het
Ttc22	A	G	4: 106,491,408 (GRCm39)	T204A	probably damaging	Het
Umodl1	A	T	17: 31,206,942 (GRCm39)	M778L	probably benign	Het
Vcan	T	C	13: 89,810,065 (GRCm39)	H2282R	probably damaging	Het
Vmn2r77	T	A	7: 86,461,123 (GRCm39)	S816R	probably damaging	Het
Vps13c	T	A	9: 67,858,969 (GRCm39)	F2806L	probably damaging	Het
Zbtb4	C	A	11: 69,669,995 (GRCm39)	A906D	probably damaging	Het
Zscan29	A	G	2: 120,995,260 (GRCm39)	V421A	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
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

Predicted Primers

PCR Primer
(F):5'- CGTATGCCAGGTTTTCCCATGTGA -3'
(R):5'- TGTGCTCTGACCTCCATGTACACCA -3'

Sequencing Primer
(F):5'- gtctttttgtctgttttctgcttg -3'
(R):5'- catgtacaccagcacacaag -3'

Posted On

2014-05-09