Incidental Mutation 'R4457:Ndufa12'
ID 329961
Institutional Source Beutler Lab
Gene Symbol Ndufa12
Ensembl Gene ENSMUSG00000020022
Gene Name NADH:ubiquinone oxidoreductase subunit A12
Synonyms 2410011G03Rik
MMRRC Submission 041717-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4457 (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 T at 94056680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 136 (K136M)
Ref Sequence ENSEMBL: ENSMUSP00000136313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020209] [ENSMUST00000135292] [ENSMUST00000179990]
AlphaFold Q7TMF3
Predicted Effect probably damaging
Transcript: ENSMUST00000020209
AA Change: K132M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022
AA Change: K132M

DomainStartEndE-ValueType
Pfam:NDUFA12 36 141 2.1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135292
SMART Domains Protein: ENSMUSP00000119625
Gene: ENSMUSG00000020022

DomainStartEndE-ValueType
Pfam:NDUFA12 36 85 1.3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179990
AA Change: K136M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022
AA Change: K136M

DomainStartEndE-ValueType
Pfam:NDUFA12 40 143 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (62/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A G 16: 90,351,260 (GRCm39) noncoding transcript Het
1700025G04Rik T C 1: 151,796,805 (GRCm39) R87G probably damaging Het
9030619P08Rik T A 15: 75,303,249 (GRCm39) noncoding transcript Het
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Arhgef5 T C 6: 43,251,027 (GRCm39) S593P probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cfap73 T C 5: 120,768,215 (GRCm39) K181R possibly damaging Het
Chn1 A G 2: 73,443,427 (GRCm39) I383T probably damaging Het
Cmtr2 A G 8: 110,948,884 (GRCm39) D398G probably benign Het
Dnah12 T C 14: 26,537,464 (GRCm39) Y2238H probably damaging Het
Dnah7c A G 1: 46,779,781 (GRCm39) N3161S probably damaging Het
Dnah8 C A 17: 31,032,125 (GRCm39) H4148Q probably benign Het
Ehbp1l1 T C 19: 5,766,321 (GRCm39) S397G possibly damaging Het
Eya4 A T 10: 22,992,566 (GRCm39) S462R probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Frrs1 G A 3: 116,690,377 (GRCm39) V7I probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gja10 A T 4: 32,601,073 (GRCm39) M437K probably benign Het
Gm2840 T G 5: 96,322,187 (GRCm39) noncoding transcript Het
Gm4956 A G 1: 21,368,319 (GRCm39) noncoding transcript Het
Gria4 A G 9: 4,427,074 (GRCm39) W789R probably damaging Het
Hoxb5 A G 11: 96,194,546 (GRCm39) D36G probably damaging Het
Hps5 A T 7: 46,433,037 (GRCm39) C228S probably benign Het
Hspa4 A T 11: 53,171,395 (GRCm39) C270S probably damaging Het
Htra4 C A 8: 25,528,674 (GRCm39) A73S possibly damaging Het
Ikzf2 T C 1: 69,723,347 (GRCm39) probably benign Het
Ivl G A 3: 92,479,673 (GRCm39) H131Y probably benign Het
Kat6a A G 8: 23,422,129 (GRCm39) probably null Het
Lamp3 T A 16: 19,492,279 (GRCm39) M322L probably benign Het
Letmd1 T C 15: 100,373,011 (GRCm39) V37A possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh1 G A 11: 67,111,441 (GRCm39) G1627R probably benign Het
Myo9b A G 8: 71,743,643 (GRCm39) I235V probably damaging Het
Ndor1 A G 2: 25,138,128 (GRCm39) probably null Het
Or2t49 A G 11: 58,392,944 (GRCm39) L146P probably damaging Het
Or4a78 A T 2: 89,497,427 (GRCm39) S268T probably benign Het
Or51g2 C T 7: 102,622,734 (GRCm39) S155N probably damaging Het
Or5d44 A G 2: 88,141,173 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,073,599 (GRCm39) D410G probably damaging Het
Pcyox1l T A 18: 61,830,939 (GRCm39) N311I probably benign Het
Pif1 A G 9: 65,495,058 (GRCm39) probably benign Het
Pkp1 CTCTTCTT CTCTT 1: 135,803,362 (GRCm39) probably null Het
Pogz G A 3: 94,763,374 (GRCm39) V49I probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rnf4 A G 5: 34,508,705 (GRCm39) Y189C probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sgms2 A C 3: 131,118,665 (GRCm39) Y273D probably damaging Het
Slc25a10 G A 11: 120,387,915 (GRCm39) V203I probably benign Het
Slc4a2 T A 5: 24,639,328 (GRCm39) probably benign Het
Tbc1d13 A G 2: 30,025,450 (GRCm39) probably benign Het
Tdrd7 A G 4: 46,007,526 (GRCm39) N526S probably benign Het
Tet2 C T 3: 133,191,324 (GRCm39) D1037N possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Usp9y T A Y: 1,394,078 (GRCm39) I551L possibly damaging Het
Vwde T C 6: 13,196,100 (GRCm39) I308M probably damaging Het
Zan T C 5: 137,409,778 (GRCm39) I3488V unknown Het
Zgrf1 A T 3: 127,389,578 (GRCm39) I375F probably damaging Het
Zic4 A G 9: 91,261,315 (GRCm39) K183R probably damaging Het
Other mutations in Ndufa12
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4280001:Ndufa12 UTSW 10 94,034,994 (GRCm39) critical splice donor site probably null
R1455:Ndufa12 UTSW 10 94,039,176 (GRCm39) missense probably benign 0.22
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
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'- TGCTGCAGTCTGACTTTGAC -3'
(R):5'- AGATCTATGTCAGTCACCTCCC -3'

Sequencing Primer
(F):5'- GCAGTCTGACTTTGACCATAACTCAG -3'
(R):5'- CATGTGCGAGCTTCTACTTTGCAG -3'
Posted On 2015-07-21