Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Ndufa10'

220363

Institutional Source

Beutler Lab

Gene Symbol

Ndufa10

Ensembl Gene

ENSMUSG00000026260

Gene Name

NADH:ubiquinone oxidoreductase subunit A10

Synonyms

2900053E13Rik

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92367208-92401547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92367614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 339 (Y339H)

Ref Sequence

ENSEMBL: ENSMUSP00000027478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027478] [ENSMUST00000189503]

AlphaFold

Q99LC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027478
AA Change: Y339H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027478
Gene: ENSMUSG00000026260
AA Change: Y339H

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:dNK	60	287	2.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153897

Predicted Effect

probably benign
Transcript: ENSMUST00000189503

SMART Domains

Protein: ENSMUSP00000140576
Gene: ENSMUSG00000026260

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,790,737 (GRCm39)	M757V	probably benign	Het
Abitram	T	A	4: 56,805,916 (GRCm39)	I138N	probably damaging	Het
Acan	T	G	7: 78,750,970 (GRCm39)	S1914A	probably benign	Het
Axin2	T	A	11: 108,833,904 (GRCm39)	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,109,975 (GRCm39)	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Ccdc34	A	G	2: 109,862,731 (GRCm39)	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,432,629 (GRCm39)	T208A	probably damaging	Het
Crabp1	C	T	9: 54,675,752 (GRCm39)	R112*	probably null	Het
Cstdc1	T	C	2: 148,624,148 (GRCm39)	F41L	probably damaging	Het
D130040H23Rik	A	G	8: 69,755,525 (GRCm39)	N310S	probably benign	Het
Dalrd3	T	C	9: 108,448,284 (GRCm39)	I278T	probably benign	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dennd2c	A	G	3: 103,039,005 (GRCm39)	D51G	possibly damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Disp1	G	T	1: 182,869,767 (GRCm39)	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,540,782 (GRCm39)	D193G	probably damaging	Het
Dnah8	A	G	17: 30,950,133 (GRCm39)	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,952,781 (GRCm39)	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,599,693 (GRCm39)	Q770*	probably null	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,966,703 (GRCm39)	I1249N	probably benign	Het
F5	A	G	1: 164,037,044 (GRCm39)	K1928E	probably benign	Het
Fhip1b	A	G	7: 105,038,143 (GRCm39)	V260A	probably damaging	Het
Gdf11	T	A	10: 128,727,314 (GRCm39)	I81F	probably damaging	Het
Gm10518	T	A	1: 179,631,483 (GRCm39)		probably benign	Het
Grb10	G	C	11: 11,920,576 (GRCm39)	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221 (GRCm39)	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,392,788 (GRCm39)	E789G	probably damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hpx	A	G	7: 105,244,311 (GRCm39)	S266P	probably damaging	Het
Hs6st3	A	G	14: 120,106,801 (GRCm39)	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Itga11	C	T	9: 62,670,093 (GRCm39)	T739I	probably damaging	Het
Kalrn	T	C	16: 34,010,106 (GRCm39)	I702V	probably damaging	Het
Kif2b	C	T	11: 91,468,172 (GRCm39)	S37N	probably damaging	Het
Kng2	T	A	16: 22,819,325 (GRCm39)	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,468,173 (GRCm39)	V124L	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Msh5	T	A	17: 35,251,768 (GRCm39)	I431F	possibly damaging	Het
Nin	T	A	12: 70,076,782 (GRCm39)	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,651,849 (GRCm39)	D729A	probably damaging	Het
Or52e8	C	A	7: 104,624,451 (GRCm39)	G247V	probably benign	Het
P2ry14	A	T	3: 59,022,866 (GRCm39)	V207E	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,170,964 (GRCm39)	L804R	probably damaging	Het
Poglut1	A	T	16: 38,358,267 (GRCm39)		probably null	Het
Prkcz	A	T	4: 155,374,167 (GRCm39)	V83D	probably damaging	Het
Prss50	T	C	9: 110,690,328 (GRCm39)	F157S	probably benign	Het
Psors1c2	A	G	17: 35,845,099 (GRCm39)		probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab7	G	A	6: 87,981,161 (GRCm39)	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,073,083 (GRCm39)	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,315,533 (GRCm39)	V503L	probably damaging	Het
Sbf1	T	A	15: 89,186,933 (GRCm39)	E815V	probably damaging	Het
Setd3	T	A	12: 108,126,526 (GRCm39)	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,234,279 (GRCm39)	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,234,280 (GRCm39)	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,956,541 (GRCm39)	S166C	probably damaging	Het
Stard9	T	A	2: 120,532,879 (GRCm39)	D3045E	probably benign	Het
Stk4	C	A	2: 163,938,751 (GRCm39)	D206E	probably damaging	Het
Syn3	T	C	10: 86,302,846 (GRCm39)	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,115,051 (GRCm39)	Y369F	probably benign	Het
Tenm2	G	T	11: 35,938,091 (GRCm39)	Y1527*	probably null	Het
Tfg	T	C	16: 56,525,988 (GRCm39)	K85R	possibly damaging	Het
Timp3	T	C	10: 86,136,749 (GRCm39)	L11P	probably damaging	Het
Tmem144	A	T	3: 79,735,018 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnks2	C	T	19: 36,843,466 (GRCm39)	L464F	probably damaging	Het
Trank1	T	C	9: 111,221,107 (GRCm39)	F2615L	probably benign	Het
Trio	T	C	15: 27,744,223 (GRCm39)	K2570E	probably damaging	Het
Trio	T	A	15: 27,774,013 (GRCm39)	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,356,458 (GRCm39)	C87S	probably benign	Het
Unc13a	C	T	8: 72,092,412 (GRCm39)	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,155,456 (GRCm39)	H404Y	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp346	T	C	13: 55,280,121 (GRCm39)	S282P	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp78	T	A	7: 6,378,513 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,003,292 (GRCm39)	E186G	probably damaging	Het

Other mutations in Ndufa10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02793:Ndufa10	APN	1	92,397,639 (GRCm39)	missense	probably damaging	1.00
IGL03116:Ndufa10	APN	1	92,392,109 (GRCm39)	nonsense	probably null
R0136:Ndufa10	UTSW	1	92,390,850 (GRCm39)	nonsense	probably null
R0627:Ndufa10	UTSW	1	92,397,618 (GRCm39)	missense	probably damaging	1.00
R2024:Ndufa10	UTSW	1	92,367,614 (GRCm39)	missense	probably damaging	0.99
R2026:Ndufa10	UTSW	1	92,367,614 (GRCm39)	missense	probably damaging	0.99
R4694:Ndufa10	UTSW	1	92,379,824 (GRCm39)	missense	probably benign	0.00
R4895:Ndufa10	UTSW	1	92,397,618 (GRCm39)	missense	probably damaging	1.00
R5423:Ndufa10	UTSW	1	92,390,042 (GRCm39)	missense	probably benign
R5785:Ndufa10	UTSW	1	92,388,096 (GRCm39)	splice site	probably null
R7011:Ndufa10	UTSW	1	92,398,581 (GRCm39)	missense	probably damaging	0.99
R7383:Ndufa10	UTSW	1	92,392,183 (GRCm39)	missense	probably damaging	0.98
R7868:Ndufa10	UTSW	1	92,388,169 (GRCm39)	missense	probably damaging	0.99
R8290:Ndufa10	UTSW	1	92,390,869 (GRCm39)	missense	possibly damaging	0.57
R8431:Ndufa10	UTSW	1	92,379,732 (GRCm39)	critical splice donor site	probably null
R8885:Ndufa10	UTSW	1	92,397,693 (GRCm39)	missense	probably damaging	1.00
R9410:Ndufa10	UTSW	1	92,367,614 (GRCm39)	missense	probably damaging	0.97
R9758:Ndufa10	UTSW	1	92,379,752 (GRCm39)	missense	probably benign	0.02
R9789:Ndufa10	UTSW	1	92,397,610 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGTGGACGCTGATTCTTTCATC -3'
(R):5'- ATCTGGATCTCTGTCCTGGAC -3'

Sequencing Primer
(F):5'- TCATCTCTGCCCAGGCGTG -3'
(R):5'- CAGGACTTCTGTGGGCAAG -3'

Posted On

2014-08-25