Incidental Mutation 'IGL03116:Ndufa10'
ID 419429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa10
Ensembl Gene ENSMUSG00000026260
Gene Name NADH:ubiquinone oxidoreductase subunit A10
Synonyms 2900053E13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03116
Quality Score
Status
Chromosome 1
Chromosomal Location 92367208-92401547 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 92392109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 215 (Q215*)
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: Q215*
SMART Domains Protein: ENSMUSP00000027478
Gene: ENSMUSG00000026260
AA Change: Q215*

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 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

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Cpd A T 11: 76,702,539 (GRCm39) Y610N probably damaging Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Gcsam T C 16: 45,440,431 (GRCm39) F136S possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Kcnn2 A T 18: 45,788,273 (GRCm39) D192V probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sohlh1 C T 2: 25,735,660 (GRCm39) probably null Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Zfp382 T C 7: 29,833,614 (GRCm39) S422P probably damaging Het
Other mutations in Ndufa10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Ndufa10 APN 1 92,397,639 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2016-08-02