Incidental Mutation 'R1455:Ndufa12'
ID 161737
Institutional Source Beutler Lab
Gene Symbol Ndufa12
Ensembl Gene ENSMUSG00000020022
Gene Name NADH:ubiquinone oxidoreductase subunit A12
Synonyms 2410011G03Rik
MMRRC Submission 039510-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1455 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 94034897-94057302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94039176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 70 (T70A)
Ref Sequence ENSEMBL: ENSMUSP00000136313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020209] [ENSMUST00000135292] [ENSMUST00000179990]
AlphaFold Q7TMF3
Predicted Effect probably benign
Transcript: ENSMUST00000020209
AA Change: T66A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022
AA Change: T66A

DomainStartEndE-ValueType
Pfam:NDUFA12 36 141 2.1e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125379
Predicted Effect probably benign
Transcript: ENSMUST00000135292
AA Change: T66A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000119625
Gene: ENSMUSG00000020022
AA Change: T66A

DomainStartEndE-ValueType
Pfam:NDUFA12 36 85 1.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179990
AA Change: T70A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022
AA Change: T70A

DomainStartEndE-ValueType
Pfam:NDUFA12 40 143 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,824 (GRCm39) N285D possibly damaging Het
Adam9 T G 8: 25,483,125 (GRCm39) M227L probably benign Het
Ankrd35 A G 3: 96,585,471 (GRCm39) D21G probably damaging Het
Arhgap32 C T 9: 32,171,381 (GRCm39) A1387V probably benign Het
Atg4d T A 9: 21,182,097 (GRCm39) V306E probably damaging Het
Brsk1 G A 7: 4,707,250 (GRCm39) V268M probably damaging Het
Cfap300 T G 9: 8,022,457 (GRCm39) N255T probably benign Het
Clec4a4 A G 6: 122,989,758 (GRCm39) E133G possibly damaging Het
Col24a1 T A 3: 145,166,593 (GRCm39) L1076H probably damaging Het
Ddah1 G T 3: 145,594,864 (GRCm39) R208L probably benign Het
Dysf A G 6: 84,090,368 (GRCm39) N960S probably benign Het
Egln2 A G 7: 26,859,796 (GRCm39) Y306H probably damaging Het
Fgfr1 T C 8: 26,052,292 (GRCm39) V293A possibly damaging Het
Gja3 A G 14: 57,273,842 (GRCm39) Y177H probably damaging Het
Glul T A 1: 153,782,845 (GRCm39) probably null Het
Gprc5a G A 6: 135,056,245 (GRCm39) V231I probably benign Het
Kdm4d C A 9: 14,375,691 (GRCm39) A56S probably damaging Het
Lingo4 G A 3: 94,306,699 (GRCm39) probably benign Het
Map6 A G 7: 98,917,421 (GRCm39) T65A probably damaging Het
Mmrn2 T C 14: 34,121,089 (GRCm39) I653T probably benign Het
Nfe2l3 C A 6: 51,434,744 (GRCm39) P435T possibly damaging Het
Npc1l1 A T 11: 6,178,174 (GRCm39) V412E possibly damaging Het
Or51a39 A T 7: 102,363,205 (GRCm39) Y138* probably null Het
Or6aa1 A T 7: 86,043,803 (GRCm39) F301Y probably damaging Het
Pcnx1 T C 12: 82,020,008 (GRCm39) F1344L probably damaging Het
Pi4ka A G 16: 17,181,818 (GRCm39) V297A probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel7 T C 2: 87,320,067 (GRCm39) T409A probably benign Het
Proc C G 18: 32,256,451 (GRCm39) M405I probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Slc4a10 G T 2: 62,117,274 (GRCm39) K744N probably damaging Het
Spdye4c A T 2: 128,438,478 (GRCm39) I279F probably damaging Het
Srcap G T 7: 127,129,822 (GRCm39) R568L probably damaging Het
Stag3 T A 5: 138,309,997 (GRCm39) M1215K probably benign Het
Tenm3 C T 8: 48,732,083 (GRCm39) A1274T possibly damaging Het
Tet2 A G 3: 133,179,406 (GRCm39) V1253A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trip12 T C 1: 84,736,821 (GRCm39) I800V probably benign Het
Zfc3h1 T C 10: 115,248,013 (GRCm39) I1072T probably benign Het
Zfp148 T A 16: 33,315,835 (GRCm39) probably null Het
Zfp941 A G 7: 140,392,687 (GRCm39) V224A probably benign Het
Other mutations in Ndufa12
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4280001:Ndufa12 UTSW 10 94,034,994 (GRCm39) critical splice donor site probably null
R1700:Ndufa12 UTSW 10 94,035,855 (GRCm39) missense probably damaging 0.99
R2067:Ndufa12 UTSW 10 94,056,569 (GRCm39) missense probably damaging 0.99
R4457:Ndufa12 UTSW 10 94,056,680 (GRCm39) missense probably damaging 1.00
R4790:Ndufa12 UTSW 10 94,056,620 (GRCm39) missense probably benign 0.02
R7603:Ndufa12 UTSW 10 94,056,641 (GRCm39) missense probably benign 0.12
R9689:Ndufa12 UTSW 10 94,035,832 (GRCm39) missense probably damaging 1.00
R9777:Ndufa12 UTSW 10 94,056,692 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCACTGTGAAAAGGTTGTGAGCCC -3'
(R):5'- TGCCGCCTGCTTAGAGAACATGTC -3'

Sequencing Primer
(F):5'- TTGTGAGCCCAACCCTAGC -3'
(R):5'- AGAGACAGCCATCTTGCTTTG -3'
Posted On 2014-03-14