Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Ndufaf2'

380671

Institutional Source

Beutler Lab

Gene Symbol

Ndufaf2

Ensembl Gene

ENSMUSG00000068184

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 2

Synonyms

Ndufa12l, mimitin, 1810058I14Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108189123-108295189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108295010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 32 (Y32H)

Ref Sequence

ENSEMBL: ENSMUSP00000153480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054835] [ENSMUST00000120672] [ENSMUST00000123182] [ENSMUST00000123657] [ENSMUST00000129117] [ENSMUST00000133957] [ENSMUST00000163558] [ENSMUST00000223734] [ENSMUST00000225702] [ENSMUST00000152634] [ENSMUST00000142931]

AlphaFold

Q59J78

Predicted Effect

probably benign
Transcript: ENSMUST00000054835

SMART Domains

Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART
WD40	175	215	2.71e-10	SMART
WD40	234	273	9.24e-4	SMART
WD40	323	362	7.5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120672

SMART Domains

Protein: ENSMUSP00000112746
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART
Blast:WD40	137	172	6e-6	BLAST
low complexity region	186	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123138

SMART Domains

Protein: ENSMUSP00000119212
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	2	54	4e-29	PDB
Blast:WD40	28	54	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123182

SMART Domains

Protein: ENSMUSP00000121777
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123657

SMART Domains

Protein: ENSMUSP00000117492
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129117

SMART Domains

Protein: ENSMUSP00000116507
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000133957

SMART Domains

Protein: ENSMUSP00000116226
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	54	3e-30	PDB
Blast:WD40	28	54	2e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000163558
AA Change: Y32H

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

SMART Domains

Protein: ENSMUSP00000130532
Gene: ENSMUSG00000068184
AA Change: Y32H

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:NDUFA12	20	135	3.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137425

Predicted Effect

probably damaging
Transcript: ENSMUST00000223734
AA Change: Y32H

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

Predicted Effect

unknown
Transcript: ENSMUST00000225702
AA Change: Y32H

Predicted Effect

unknown
Transcript: ENSMUST00000225830
AA Change: Y3H

Predicted Effect

probably benign
Transcript: ENSMUST00000152634

SMART Domains

Protein: ENSMUSP00000122802
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142931

SMART Domains

Protein: ENSMUSP00000118154
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART

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.] NADH:ubiquinone oxidoreductase (complex I) 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. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired complex I mitochondrial activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,342 (GRCm39)	V616E	possibly damaging	Het
Adam21	A	G	12: 81,605,692 (GRCm39)	V690A	probably benign	Het
Afg3l1	A	T	8: 124,228,119 (GRCm39)	T635S	probably damaging	Het
Ahcyl2	T	A	6: 29,890,700 (GRCm39)	M390K	probably benign	Het
Ank3	T	A	10: 69,734,053 (GRCm39)		probably null	Het
Antkmt	T	G	17: 26,010,652 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 27,106,170 (GRCm39)	K151N	probably damaging	Het
Ccr3	T	G	9: 123,829,043 (GRCm39)	F126C	probably damaging	Het
Ccser1	A	G	6: 61,695,175 (GRCm39)	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,310,074 (GRCm39)	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,675,820 (GRCm39)	L265F	probably damaging	Het
Chrna9	C	T	5: 66,126,533 (GRCm39)	R92*	probably null	Het
Cog3	A	T	14: 75,970,394 (GRCm39)	V341D	probably damaging	Het
Csmd1	C	A	8: 16,073,779 (GRCm39)	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,448,039 (GRCm39)	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,579,078 (GRCm39)	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,297,110 (GRCm39)	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,069,603 (GRCm39)	W643R	probably damaging	Het
Dip2c	A	G	13: 9,674,008 (GRCm39)	K1091E	probably damaging	Het
Dis3	T	A	14: 99,326,340 (GRCm39)	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,542,737 (GRCm39)	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Doc2a	T	C	7: 126,447,752 (GRCm39)		probably benign	Het
Dph5	A	T	3: 115,693,456 (GRCm39)	M125L	probably benign	Het
Dst	A	T	1: 34,267,764 (GRCm39)	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,952,889 (GRCm39)	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,636,711 (GRCm39)	I207V	possibly damaging	Het
Fat4	T	A	3: 39,061,352 (GRCm39)	S4312T	probably benign	Het
Fgfr2	T	C	7: 129,843,007 (GRCm39)	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,315,983 (GRCm39)	T799A	unknown	Het
Gcn1	A	T	5: 115,730,203 (GRCm39)	D839V	probably benign	Het
Gprin3	A	G	6: 59,331,158 (GRCm39)	V383A	probably benign	Het
Gpt	T	C	15: 76,583,040 (GRCm39)	V361A	probably benign	Het
Hepacam	G	A	9: 37,293,060 (GRCm39)	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,660,151 (GRCm39)	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,879,462 (GRCm39)	N30K	probably benign	Het
Jhy	A	T	9: 40,872,299 (GRCm39)	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,529,174 (GRCm39)	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,501,447 (GRCm39)	Q171*	probably null	Het
Mcm8	G	A	2: 132,680,629 (GRCm39)	M544I	probably benign	Het
Mdga1	C	T	17: 30,076,580 (GRCm39)	G64E	probably damaging	Het
Mmp3	A	G	9: 7,446,994 (GRCm39)	D58G	probably benign	Het
Ms4a10	T	C	19: 10,942,132 (GRCm39)	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,535,296 (GRCm39)	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,930,241 (GRCm39)	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,566,606 (GRCm39)	S567R	probably benign	Het
Nup153	T	A	13: 46,866,213 (GRCm39)	K182*	probably null	Het
Or4c100	A	G	2: 88,356,079 (GRCm39)	T51A	probably benign	Het
Or52p2	A	G	7: 102,237,623 (GRCm39)	F109S	probably damaging	Het
Or5p4	T	A	7: 107,680,781 (GRCm39)	V260E	probably damaging	Het
Otoa	T	C	7: 120,754,358 (GRCm39)	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,216,496 (GRCm39)	D295G	probably benign	Het
P4ha2	C	A	11: 54,015,846 (GRCm39)	T411K	probably benign	Het
Plcg2	A	T	8: 118,333,822 (GRCm39)	Q865L	probably benign	Het
Prepl	G	T	17: 85,385,932 (GRCm39)	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,388,103 (GRCm39)	K776*	probably null	Het
Rc3h2	T	C	2: 37,279,844 (GRCm39)	K462E	possibly damaging	Het
Scn10a	A	G	9: 119,516,940 (GRCm39)		probably null	Het
Serpinb1c	A	G	13: 33,066,147 (GRCm39)	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,433,861 (GRCm39)	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,508,038 (GRCm39)	G16D	possibly damaging	Het
Spns3	T	C	11: 72,390,321 (GRCm39)	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,618,556 (GRCm39)	D49G	probably damaging	Het
Tec	A	T	5: 72,917,736 (GRCm39)	C494*	probably null	Het
Tecpr1	A	T	5: 144,141,476 (GRCm39)	Y798N	probably damaging	Het
Tex56	A	T	13: 35,116,613 (GRCm39)	T121S	possibly damaging	Het
Tmt1a	T	A	15: 100,202,987 (GRCm39)	F87Y	probably benign	Het
Trim56	C	T	5: 137,143,343 (GRCm39)	E58K	probably damaging	Het
Ttn	A	T	2: 76,626,478 (GRCm39)	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,686,790 (GRCm39)	K46*	probably null	Het
Ucn	G	T	5: 31,295,842 (GRCm39)	T8K	probably benign	Het
Usp25	T	C	16: 76,830,870 (GRCm39)		probably null	Het
Usp48	A	T	4: 137,343,144 (GRCm39)	Q430L	probably benign	Het
Usp48	A	T	4: 137,343,145 (GRCm39)		probably null	Het
Vill	A	T	9: 118,890,579 (GRCm39)	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,356,751 (GRCm39)	M806K	possibly damaging	Het
Wdfy4	T	A	14: 32,750,970 (GRCm39)	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,141,826 (GRCm39)	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,552,350 (GRCm39)	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,729,014 (GRCm39)	D126G	probably damaging	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,251,635 (GRCm39)	H89L	possibly damaging	Het
Zfp82	T	A	7: 29,756,312 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het

Other mutations in Ndufaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02249:Ndufaf2	APN	13	108,217,925 (GRCm39)	missense	probably damaging	0.99
R1607:Ndufaf2	UTSW	13	108,228,107 (GRCm39)	missense	probably benign	0.05
R4707:Ndufaf2	UTSW	13	108,189,314 (GRCm39)	missense	probably damaging	0.97
R4784:Ndufaf2	UTSW	13	108,189,314 (GRCm39)	missense	probably damaging	0.97
R4785:Ndufaf2	UTSW	13	108,189,314 (GRCm39)	missense	probably damaging	0.97
R8378:Ndufaf2	UTSW	13	108,189,387 (GRCm39)	missense	probably damaging	1.00
R8984:Ndufaf2	UTSW	13	108,189,316 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCAAACTTCGTCGCCCAAG -3'
(R):5'- CATTGGCCAATCAGCGATGTG -3'

Sequencing Primer
(F):5'- AAGGCAACCGCCAAGTCCTGGG -3'
(R):5'- AATCAGCGATGTGGCCTGAC -3'

Posted On

2016-04-15