Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Ndufaf1'

249268

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

040383-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119485927-119493302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119486218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 298 (E298G)

Ref Sequence

ENSEMBL: ENSMUSP00000106426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000028771] [ENSMUST00000110801] [ENSMUST00000110802]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028768
AA Change: E300G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: E300G

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: ENSMUST00000028771

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	119	129	N/A	INTRINSIC
coiled coil region	360	392	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110801
AA Change: E298G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: E298G

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 damaging
Transcript: ENSMUST00000110802
AA Change: E298G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: E298G

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

0.8961

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,168,643 (GRCm39)	T449A	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dnal1	C	T	12: 84,183,480 (GRCm39)	Q80*	probably null	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gart	A	G	16: 91,439,928 (GRCm39)		probably null	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Psmd2	T	A	16: 20,478,856 (GRCm39)		probably null	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vangl2	T	C	1: 171,835,526 (GRCm39)	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	probably damaging	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
R2422:Ndufaf1	UTSW	2	119,486,218 (GRCm39)	missense	probably damaging	1.00
R3824:Ndufaf1	UTSW	2	119,490,752 (GRCm39)	missense	probably benign	0.30
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'- TGTAAGCACTCAGAAGAACTTCCAC -3'
(R):5'- CGAAAAGTGTACCATGCTGAG -3'

Sequencing Primer
(F):5'- AGAGGCCATGCTGTACTTAC -3'
(R):5'- AAGTGTACCATGCTGAGGGCTG -3'

Posted On

2014-11-12