Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Ndufa10'

653729

Institutional Source

Beutler Lab

Gene Symbol

Ndufa10

Ensembl Gene

ENSMUSG00000026260

Gene Name

NADH:ubiquinone oxidoreductase subunit A10

Synonyms

2900053E13Rik

MMRRC Submission

067776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92367208-92401547 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to G at 92379732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027478 (fasta)

Gene Model

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

AlphaFold

Q99LC3

Predicted Effect

probably null
Transcript: ENSMUST00000027478

SMART Domains

Protein: ENSMUSP00000027478
Gene: ENSMUSG00000026260

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,873 (GRCm39)	F273S		Het
Abhd14b	G	T	9: 106,328,612 (GRCm39)	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,181,228 (GRCm39)	P51L	probably benign	Het
Adap1	A	C	5: 139,259,180 (GRCm39)	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,248 (GRCm39)	N172S	probably damaging	Het
Arhgap24	A	G	5: 103,040,464 (GRCm39)	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,614,227 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Card6	A	T	15: 5,129,758 (GRCm39)	F546Y	probably damaging	Het
Cby3	T	G	11: 50,250,084 (GRCm39)	S2A	probably damaging	Het
Cct3	T	C	3: 88,225,831 (GRCm39)	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316 (GRCm39)	A408S	probably damaging	Het
Ctsr	A	C	13: 61,308,304 (GRCm39)	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Dlg4	A	G	11: 69,930,388 (GRCm39)	I388V	probably benign	Het
Ednrb	T	A	14: 104,080,633 (GRCm39)	I94F	probably benign	Het
Eftud2	C	A	11: 102,737,062 (GRCm39)	A573S	probably benign	Het
Fsip2	C	A	2: 82,811,910 (GRCm39)	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Ier5	C	A	1: 154,974,306 (GRCm39)	D291Y	probably benign	Het
Ifi207	T	C	1: 173,558,070 (GRCm39)	I223V	unknown	Het
Ifi208	T	C	1: 173,510,844 (GRCm39)	V333A	possibly damaging	Het
Kank4	T	C	4: 98,667,509 (GRCm39)	I313V	probably benign	Het
Klhl7	T	C	5: 24,343,473 (GRCm39)	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,605,122 (GRCm39)	D314G	probably benign	Het
Lrr1	T	C	12: 69,225,470 (GRCm39)	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,830,190 (GRCm39)	Q48L	probably benign	Het
Marchf6	C	T	15: 31,505,892 (GRCm39)	W43*	probably null	Het
Mepe	A	G	5: 104,486,047 (GRCm39)	T396A	possibly damaging	Het
Myh8	T	G	11: 67,174,440 (GRCm39)	L229R	possibly damaging	Het
Nek1	C	A	8: 61,487,066 (GRCm39)	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,199,767 (GRCm39)	Y384C	probably damaging	Het
Or4c118	C	A	2: 88,974,723 (GRCm39)	V215F	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Phf2	A	G	13: 48,975,078 (GRCm39)	F294S	unknown	Het
Polr3e	A	T	7: 120,530,528 (GRCm39)	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,671,952 (GRCm39)	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456 (GRCm39)	S860T	probably benign	Het
Rnf144a	T	C	12: 26,377,300 (GRCm39)	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,673,894 (GRCm39)	E3390G	probably benign	Het
Scn7a	T	C	2: 66,534,164 (GRCm39)	T504A	possibly damaging	Het
Slc26a5	T	G	5: 22,018,904 (GRCm39)	D645A	probably damaging	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Ston2	T	A	12: 91,615,071 (GRCm39)	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,530,314 (GRCm39)	P57S	probably damaging	Het
Th	G	T	7: 142,446,801 (GRCm39)	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,095,661 (GRCm39)	I61N	probably benign	Het
Wdtc1	A	G	4: 133,049,481 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 52,983,937 (GRCm39)	N596S	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
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
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
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'- GCCATCAGCTAGTGAATGGAG -3'
(R):5'- TGAACATGCCTGCTTGTGAAC -3'

Sequencing Primer
(F):5'- TGAATGGAGGATATGTGTCCAAC -3'
(R):5'- TGAAGCCAGATTCTCTTAGCATCCAG -3'

Posted On

2020-10-20