Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Ndufa10'

21922

Institutional Source

Beutler Lab

Gene Symbol

Ndufa10

Ensembl Gene

ENSMUSG00000026260

Gene Name

NADH:ubiquinone oxidoreductase subunit A10

Synonyms

2900053E13Rik

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

92367208-92401547 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 92390850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 233 (Y233*)

Ref Sequence

ENSEMBL: ENSMUSP00000027478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027478] [ENSMUST00000185251] [ENSMUST00000189503]

AlphaFold

Q99LC3

Predicted Effect

probably null
Transcript: ENSMUST00000027478
AA Change: Y233*

SMART Domains

Protein: ENSMUSP00000027478
Gene: ENSMUSG00000026260
AA Change: Y233*

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

noncoding transcript
Transcript: ENSMUST00000183483

Predicted Effect

probably benign
Transcript: ENSMUST00000185251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187141

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	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
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
R2025: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'- TAACTTCGCTGAAGAATGCCCGCC -3'
(R):5'- AGGAATCATTCTCACTGCCTGTCCC -3'

Sequencing Primer
(F):5'- AACCTGGATTGAAAAGGCTCC -3'
(R):5'- CCTGAAGCTGGTAGCTCTTTAGAAG -3'

Posted On

2013-04-12