Mutagenetix > Incidental Mutation

Incidental Mutation 'R7202:Ndufaf1'

560351

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

045280-MU

Accession Numbers

Essential gene?

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

Stock #

R7202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119485927-119493302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119488907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 206 (S206T)

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: S206T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: S206T

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: S204T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: S204T

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: S204T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: S204T

Domain	Start	End	E-Value	Type
Pfam:CIA30	126	299	1.1e-47	PFAM
Pfam:CBM_11	127	312	1.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,917,236 (GRCm39)	I1467T	probably damaging	Het
Abtb3	A	G	10: 85,223,629 (GRCm39)	E146G	unknown	Het
Adgrf3	T	A	5: 30,409,378 (GRCm39)	K38*	probably null	Het
Ahdc1	T	A	4: 132,789,198 (GRCm39)	C146*	probably null	Het
Ahnak	A	T	19: 8,995,163 (GRCm39)	K5482N	probably damaging	Het
Arhgap23	C	T	11: 97,342,819 (GRCm39)	A367V	possibly damaging	Het
Arvcf	T	C	16: 18,223,948 (GRCm39)	S960P	probably damaging	Het
Asb14	C	A	14: 26,622,394 (GRCm39)	P74Q	probably benign	Het
Atad5	T	C	11: 79,980,601 (GRCm39)	V2A	probably damaging	Het
Baz2a	A	G	10: 127,954,428 (GRCm39)	I691M	possibly damaging	Het
Brca2	A	G	5: 150,455,819 (GRCm39)	T187A	probably benign	Het
Calr4	T	A	4: 109,101,254 (GRCm39)	N152K	possibly damaging	Het
Ccnb2	C	T	9: 70,318,128 (GRCm39)	A215T	probably damaging	Het
Cdh16	C	T	8: 105,340,780 (GRCm39)	D140N	unknown	Het
Ces1g	T	C	8: 94,029,595 (GRCm39)	T546A	probably benign	Het
Cfap74	G	T	4: 155,510,654 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,155,959 (GRCm39)	Y88C	probably benign	Het
Col5a1	G	T	2: 27,842,390 (GRCm39)	D422Y	unknown	Het
Cyp2c66	A	T	19: 39,130,348 (GRCm39)	Y61F	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,158,688 (GRCm39)		probably null	Het
Dop1a	T	G	9: 86,386,220 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,954,834 (GRCm39)	F106L	probably damaging	Het
Gfy	T	C	7: 44,827,596 (GRCm39)	T167A	probably benign	Het
Gm6525	A	T	3: 84,082,341 (GRCm39)	R87S	probably benign	Het
Gramd1c	C	A	16: 43,879,584 (GRCm39)	A19S	possibly damaging	Het
Herc2	T	C	7: 55,781,034 (GRCm39)	V1233A	probably damaging	Het
Hibch	G	A	1: 52,892,874 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,027 (GRCm39)	S9C	probably benign	Het
Il17ra	A	G	6: 120,452,572 (GRCm39)	I252V	probably benign	Het
Ino80	A	T	2: 119,204,918 (GRCm39)	M1536K	probably benign	Het
Ipo11	A	T	13: 107,012,078 (GRCm39)	L568Q	probably damaging	Het
Kcnu1	T	G	8: 26,409,609 (GRCm39)		probably null	Het
Kdm5b	T	G	1: 134,552,497 (GRCm39)	S1158A	probably benign	Het
Kmt2a	T	C	9: 44,759,012 (GRCm39)	T946A	probably benign	Het
Kmt2e	A	T	5: 23,697,292 (GRCm39)		probably benign	Het
Krba1	G	A	6: 48,389,261 (GRCm39)	V594M	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lig1	C	T	7: 13,025,175 (GRCm39)	P227S	probably benign	Het
Lims2	T	A	18: 32,090,017 (GRCm39)	D255E	probably benign	Het
Marchf3	C	T	18: 56,909,161 (GRCm39)	C208Y	probably benign	Het
Mei1	A	G	15: 81,976,843 (GRCm39)	E142G		Het
Melk	G	T	4: 44,351,106 (GRCm39)	R549L	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myorg	T	C	4: 41,498,268 (GRCm39)	Y454C	probably damaging	Het
Nae1	T	C	8: 105,250,215 (GRCm39)	Y226C	possibly damaging	Het
Nap1l1	T	C	10: 111,326,964 (GRCm39)	F175S	probably damaging	Het
Ndn	T	C	7: 61,998,709 (GRCm39)	L185P	probably damaging	Het
Ndst3	T	A	3: 123,465,388 (GRCm39)	I195F	possibly damaging	Het
Nek10	C	A	14: 14,836,171 (GRCm38)	H131N	probably benign	Het
Obsl1	T	A	1: 75,466,360 (GRCm39)	D1456V	possibly damaging	Het
Or10a2	A	G	7: 106,673,448 (GRCm39)	N138D	probably benign	Het
Or10ak7	C	T	4: 118,791,215 (GRCm39)	V277I	probably benign	Het
Or52s6	T	A	7: 103,092,292 (GRCm39)	T13S	probably benign	Het
Otog	C	T	7: 45,937,474 (GRCm39)	L1728F	probably damaging	Het
Pcx	A	T	19: 4,652,361 (GRCm39)	M150L	possibly damaging	Het
Pole	A	G	5: 110,444,973 (GRCm39)	D443G	possibly damaging	Het
Prr14	G	T	7: 127,075,648 (GRCm39)	R552L	probably damaging	Het
Rasgrf1	T	G	9: 89,899,125 (GRCm39)	S1156A	possibly damaging	Het
Rfc4	T	A	16: 22,946,359 (GRCm39)		probably benign	Het
Rfx5	G	T	3: 94,866,272 (GRCm39)	A524S	unknown	Het
Ryr3	G	A	2: 112,596,664 (GRCm39)	P2497S	probably damaging	Het
Scg3	T	C	9: 75,590,992 (GRCm39)	T6A	probably benign	Het
Slc26a9	A	T	1: 131,690,526 (GRCm39)	D510V	possibly damaging	Het
Stpg3	A	G	2: 25,104,586 (GRCm39)	F10L	probably damaging	Het
Tmc5	T	A	7: 118,239,179 (GRCm39)	H357Q	possibly damaging	Het
Tmem40	A	T	6: 115,707,420 (GRCm39)	L253H	probably damaging	Het
Tmie	A	G	9: 110,696,632 (GRCm39)	V83A	probably damaging	Het
Uck2	A	T	1: 167,054,084 (GRCm39)	I218N	probably damaging	Het
Vtn	A	G	11: 78,391,626 (GRCm39)	D310G	possibly damaging	Het
Wdr49	A	T	3: 75,240,580 (GRCm39)	S430T	probably benign	Het
Wtip	A	G	7: 33,832,087 (GRCm39)	V133A	probably benign	Het
Zbtb9	T	A	17: 27,193,666 (GRCm39)	V357E	probably damaging	Het
Zfp953	G	A	13: 67,491,706 (GRCm39)	T82M	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
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
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'- AGATCCCATTTTCCTAACAGTGAAG -3'
(R):5'- GATGGGCAGGTTTACCTTGC -3'

Sequencing Primer
(F):5'- CCCATTTTCCTAACAGTGAAGAATTG -3'
(R):5'- GTTCTATCTTTGGAACCCACAAGG -3'

Posted On

2019-06-26