Incidental Mutation 'R2024:Ndufa10'
ID 220217
Institutional Source Beutler Lab
Gene Symbol Ndufa10
Ensembl Gene ENSMUSG00000026260
Gene Name NADH:ubiquinone oxidoreductase subunit A10
Synonyms 2900053E13Rik
MMRRC Submission 040033-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2024 (G1)
Quality Score 225
Status Not validated
Chromosome 1
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 90.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 A G 15: 96,259,680 (GRCm39) D280G probably damaging Het
Atosa A G 9: 74,917,672 (GRCm39) D757G probably damaging Het
Azi2 C T 9: 117,878,390 (GRCm39) R77* probably null Het
Chd8 T C 14: 52,468,950 (GRCm39) D556G probably benign Het
Cit T C 5: 116,085,983 (GRCm39) M849T probably damaging Het
Cit T C 5: 116,143,899 (GRCm39) S1923P probably damaging Het
Col17a1 T A 19: 47,639,185 (GRCm39) H1120L probably benign Het
Col6a5 G T 9: 105,814,193 (GRCm39) H606Q unknown Het
Dnajc2 A C 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Dpp6 A G 5: 27,914,457 (GRCm39) D514G possibly damaging Het
Dync2h1 A G 9: 7,129,062 (GRCm39) S1818P probably damaging Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Emc1 G A 4: 139,088,257 (GRCm39) E342K possibly damaging Het
Fam3c T C 6: 22,329,592 (GRCm39) D45G probably benign Het
Fchsd2 A C 7: 100,847,740 (GRCm39) D210A possibly damaging Het
Flg T A 3: 93,186,722 (GRCm39) M58K probably damaging Het
Gabra5 G A 7: 57,138,698 (GRCm39) R117C probably damaging Het
Gm6741 G A 17: 91,544,309 (GRCm39) S24N probably benign Het
Grin2a T C 16: 9,462,107 (GRCm39) D675G possibly damaging Het
Hectd4 T G 5: 121,419,981 (GRCm39) V642G possibly damaging Het
Herc6 C T 6: 57,560,317 (GRCm39) T119M probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmgcs2 T C 3: 98,206,530 (GRCm39) S371P probably damaging Het
Idua C T 5: 108,828,600 (GRCm39) A271V probably damaging Het
Inpp5d T A 1: 87,623,072 (GRCm39) C125* probably null Het
Krt14 C T 11: 100,098,044 (GRCm39) G80R unknown Het
Lama5 T C 2: 179,820,923 (GRCm39) Y3176C probably benign Het
Lce1k C T 3: 92,713,809 (GRCm39) C125Y unknown 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
Meioc C T 11: 102,566,184 (GRCm39) A600V probably benign Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Mms22l A G 4: 24,588,365 (GRCm39) Y999C probably damaging Het
Ncbp3 T A 11: 72,944,346 (GRCm39) M116K possibly damaging Het
Nkx3-1 T C 14: 69,428,266 (GRCm39) I38T probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k49 T A 2: 111,495,168 (GRCm39) M199K possibly damaging Het
Padi6 T G 4: 140,456,279 (GRCm39) I572L possibly damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pkd1l2 A G 8: 117,746,272 (GRCm39) V1906A probably benign Het
Pom121 T C 5: 135,410,404 (GRCm39) probably benign Het
Psmd9 T C 5: 123,379,925 (GRCm39) F115L probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rai1 T C 11: 60,076,415 (GRCm39) F160L probably damaging Het
Rhbdl2 A T 4: 123,720,665 (GRCm39) R234S probably damaging Het
Rnase2a T A 14: 51,493,245 (GRCm39) Y40F probably damaging Het
Setd2 T C 9: 110,378,201 (GRCm39) V672A possibly damaging Het
Sgpp2 A G 1: 78,393,857 (GRCm39) I287V probably benign Het
Sh3pxd2a T C 19: 47,255,703 (GRCm39) E1033G probably benign Het
Slc5a9 G A 4: 111,747,728 (GRCm39) T284I probably damaging Het
Slfn9 A G 11: 82,872,507 (GRCm39) L743P probably damaging Het
Smchd1 T A 17: 71,677,923 (GRCm39) N1473I probably benign Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Tectb T C 19: 55,170,361 (GRCm39) F71L probably damaging Het
Tmem220 T C 11: 66,924,979 (GRCm39) I138T possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Tnc A G 4: 63,882,858 (GRCm39) V1921A probably damaging Het
Ubn1 T G 16: 4,882,487 (GRCm39) L316W probably damaging Het
Vwa5a T C 9: 38,647,357 (GRCm39) S579P probably damaging Het
Xdh A G 17: 74,228,300 (GRCm39) L367P possibly damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp990 A C 4: 145,263,974 (GRCm39) Y324S possibly damaging Het
Other mutations in Ndufa10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGTGGACGCTGATTCTTTCATC -3'
(R):5'- TCTGGATCTCTGTCCTGGAC -3'

Sequencing Primer
(F):5'- TCATCTCTGCCCAGGCGTG -3'
(R):5'- CAGGACTTCTGTGGGCAAG -3'
Posted On 2014-08-25