Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Ndufaf1'

275253

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf1

Ensembl Gene

ENSMUSG00000027305

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 1

Synonyms

2410001M24Rik, CIA30, CGI-65

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

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

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119485927-119493302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119490752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 105 (V105M)

Ref Sequence

ENSEMBL: ENSMUSP00000028768 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028768
AA Change: V105M

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: V105M

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: ENSMUST00000110801
AA Change: V103M

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: V103M

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
AA Change: V103M

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: V103M

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

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,664,635 (GRCm39)	T308S	probably benign	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Or2o1	A	G	11: 49,051,620 (GRCm39)	S260G	possibly damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31e3	G	A	13: 50,399,548 (GRCm39)	S926F	possibly damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
St8sia1	A	G	6: 142,774,751 (GRCm39)	L276P	probably damaging	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	probably benign	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
IGL03087:Ndufaf1	APN	2	119,486,280 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCATAAAGCAGGGCACTTCG -3'
(R):5'- TTACCTCCATTTGTGGGTAGTCAC -3'

Sequencing Primer
(F):5'- CAGGGCACTTCGGTTGTTC -3'
(R):5'- AGTCACTGTGTAGACTATTCTTCCAG -3'

Posted On

2015-04-02