Mutagenetix > Incidental Mutation

Incidental Mutation 'R6904:Ndufaf5'

538670

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf5

Ensembl Gene

ENSMUSG00000027384

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 5

Synonyms

2310003L22Rik

MMRRC Submission

045033-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R6904 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140012569-140045609 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140030700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 195 (Y195*)

Ref Sequence

ENSEMBL: ENSMUSP00000035325 (fasta)

Gene Model

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

AlphaFold

A2APY7

Predicted Effect

probably null
Transcript: ENSMUST00000044825
AA Change: Y195*

SMART Domains

Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: Y195*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,516 (GRCm39)	Y406*	probably null	Het
Acadvl	T	C	11: 69,905,159 (GRCm39)	D109G	probably benign	Het
Adam24	G	A	8: 41,134,542 (GRCm39)	G670E	probably damaging	Het
Angpt1	T	C	15: 42,323,136 (GRCm39)	M378V	probably benign	Het
Ankrd33	G	A	15: 101,014,993 (GRCm39)		probably null	Het
Apol7b	G	A	15: 77,307,625 (GRCm39)	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,553,180 (GRCm39)	W54R	probably damaging	Het
B3glct	A	G	5: 149,663,069 (GRCm39)		probably null	Het
Bmp7	A	G	2: 172,714,706 (GRCm39)	S368P	probably damaging	Het
Boc	A	G	16: 44,312,154 (GRCm39)	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,259,002 (GRCm39)	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,002,980 (GRCm39)	D697G	probably benign	Het
Cep85l	T	C	10: 53,225,194 (GRCm39)	T132A	probably benign	Het
Ces1b	T	A	8: 93,787,038 (GRCm39)	Y447F	probably damaging	Het
Cfhr4	T	G	1: 139,659,391 (GRCm39)	N642H	possibly damaging	Het
Cntn4	A	T	6: 106,674,544 (GRCm39)	T1015S	probably benign	Het
Eea1	T	G	10: 95,838,741 (GRCm39)		probably null	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Hipk1	A	T	3: 103,684,828 (GRCm39)	N262K	possibly damaging	Het
Jmjd8	G	A	17: 26,048,026 (GRCm39)	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,178,259 (GRCm39)	T344S	probably damaging	Het
Krt39	T	C	11: 99,410,647 (GRCm39)	D175G	probably damaging	Het
Map4k1	A	G	7: 28,686,227 (GRCm39)	Y81C	probably damaging	Het
Mpdu1	T	A	11: 69,549,411 (GRCm39)	T95S	probably benign	Het
Myl12b	A	T	17: 71,284,135 (GRCm39)	I31N	probably damaging	Het
Or4c119	G	A	2: 88,987,157 (GRCm39)	R121C	possibly damaging	Het
Or4d5	T	C	9: 40,012,652 (GRCm39)	I45V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,790 (GRCm39)	F126I	probably benign	Het
Or52z12	T	A	7: 103,233,727 (GRCm39)	I166N	possibly damaging	Het
Or5w17	A	G	2: 87,584,223 (GRCm39)	V38A	probably benign	Het
Oxgr1	T	A	14: 120,259,431 (GRCm39)	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,534,970 (GRCm39)	D321E	probably benign	Het
Pi4kb	G	T	3: 94,900,461 (GRCm39)	R392L	probably damaging	Het
Pramel18	G	A	4: 101,767,291 (GRCm39)	C180Y	possibly damaging	Het
Prss41	T	C	17: 24,056,622 (GRCm39)	K151R	probably benign	Het
Rev3l	T	A	10: 39,697,477 (GRCm39)	V658D	probably benign	Het
Snx4	A	G	16: 33,115,108 (GRCm39)	I430V	probably damaging	Het
Tanc2	C	T	11: 105,726,056 (GRCm39)	H407Y	possibly damaging	Het
Tcf25	G	A	8: 124,127,437 (GRCm39)		probably null	Het
Tsc22d1	A	T	14: 76,743,923 (GRCm39)	K24*	probably null	Het
Vmn2r30	A	G	7: 7,315,547 (GRCm39)	F762S	probably damaging	Het
Xrcc6	A	G	15: 81,913,323 (GRCm39)	T319A	probably benign	Het
Zbtb1	C	T	12: 76,432,985 (GRCm39)	R324*	probably null	Het
Zc3h7a	A	G	16: 10,963,535 (GRCm39)	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,540,457 (GRCm39)		probably benign	Het
Zfp456	A	T	13: 67,514,384 (GRCm39)	S441T	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
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
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'- ACAAGGGAGTGTCCTGTCTG -3'
(R):5'- GTAGGCTACTTGTGGACTACTTAG -3'

Sequencing Primer
(F):5'- CATACATCATAGAGCAGTGACTCTAG -3'
(R):5'- GTGGACTACTTAGTTCTCCTGATAC -3'

Posted On

2018-11-06