Incidental Mutation 'R9689:Ndufa12'
ID 729056
Institutional Source Beutler Lab
Gene Symbol Ndufa12
Ensembl Gene ENSMUSG00000020022
Gene Name NADH:ubiquinone oxidoreductase subunit A12
Synonyms 2410011G03Rik
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 94034897-94057302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94035832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 40 (G40D)
Ref Sequence ENSEMBL: ENSMUSP00000136313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020209] [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290] [ENSMUST00000135292] [ENSMUST00000179990]
AlphaFold Q7TMF3
Predicted Effect probably damaging
Transcript: ENSMUST00000020209
AA Change: G36D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022
AA Change: G36D

DomainStartEndE-ValueType
Pfam:NDUFA12 36 141 2.1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092213
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099343
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105290
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135292
AA Change: G36D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119625
Gene: ENSMUSG00000020022
AA Change: G36D

DomainStartEndE-ValueType
Pfam:NDUFA12 36 85 1.3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179990
AA Change: G40D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022
AA Change: G40D

DomainStartEndE-ValueType
Pfam:NDUFA12 40 143 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,942,780 (GRCm39) V1538E probably damaging Het
Ank1 T C 8: 23,631,253 (GRCm39) V1833A probably benign Het
Apc2 G A 10: 80,150,733 (GRCm39) R1929Q probably damaging Het
Asb1 A G 1: 91,474,708 (GRCm39) I85V probably damaging Het
Bco2 A T 9: 50,445,938 (GRCm39) I486K probably damaging Het
Braf T A 6: 39,591,084 (GRCm39) I792F probably damaging Het
Cacng2 T C 15: 77,879,399 (GRCm39) K308E possibly damaging Het
Ccr6 G T 17: 8,475,821 (GRCm39) R342L possibly damaging Het
Cdh16 T A 8: 105,341,108 (GRCm39) I802F probably benign Het
Cftr T C 6: 18,313,649 (GRCm39) I1291T probably damaging Het
CN725425 T A 15: 91,120,030 (GRCm39) D50E possibly damaging Het
Cnga1 T C 5: 72,762,170 (GRCm39) Y448C probably benign Het
Cntnap1 T C 11: 101,072,178 (GRCm39) I477T probably damaging Het
Col18a1 G A 10: 76,916,578 (GRCm39) Q366* probably null Het
Csf3 C A 11: 98,592,949 (GRCm39) A104D probably benign Het
Dmbt1 A G 7: 130,660,015 (GRCm39) H422R unknown Het
Dnah12 A G 14: 26,590,871 (GRCm39) D3325G probably null Het
Dnah17 T C 11: 117,963,731 (GRCm39) D2514G probably damaging Het
Fgf9 T A 14: 58,310,680 (GRCm39) H56Q probably damaging Het
Fgfr3 A T 5: 33,892,248 (GRCm39) Y689F probably damaging Het
Fhip2a G A 19: 57,369,710 (GRCm39) V418I probably benign Het
Gar1 A T 3: 129,624,269 (GRCm39) D74E probably damaging Het
Helq T C 5: 100,934,927 (GRCm39) K488E possibly damaging Het
Hmg20a A G 9: 56,381,823 (GRCm39) H33R possibly damaging Het
Igsf10 T C 3: 59,233,624 (GRCm39) D1703G probably damaging Het
Jph3 A T 8: 122,480,377 (GRCm39) I352F probably benign Het
Kng1 T C 16: 22,879,224 (GRCm39) F96S probably damaging Het
Krtap5-2 C A 7: 141,729,029 (GRCm39) S217I unknown Het
Lamp3 T C 16: 19,518,455 (GRCm39) S261G possibly damaging Het
Macf1 A G 4: 123,365,654 (GRCm39) F3036L probably benign Het
Map4k4 G A 1: 40,058,722 (GRCm39) R972H possibly damaging Het
Mccc1 C T 3: 36,030,903 (GRCm39) D388N probably benign Het
Mcoln1 T A 8: 3,557,436 (GRCm39) Y147* probably null Het
Mei1 T C 15: 81,997,129 (GRCm39) S622P Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Nav3 A G 10: 109,605,034 (GRCm39) L1013P probably damaging Het
Ndrg2 T C 14: 52,146,071 (GRCm39) N170S probably damaging Het
Ogdhl T A 14: 32,059,523 (GRCm39) V390E probably damaging Het
Or10ak12 A C 4: 118,666,999 (GRCm39) S21A probably benign Het
Or1e26 T C 11: 73,479,686 (GRCm39) R293G probably damaging Het
Or4d10 A T 19: 12,051,567 (GRCm39) I143K possibly damaging Het
Or4f6 T A 2: 111,839,124 (GRCm39) M136L probably benign Het
Or8g37 A T 9: 39,731,801 (GRCm39) I289F possibly damaging Het
Osgin1 A G 8: 120,172,247 (GRCm39) D347G possibly damaging Het
Oxct2a A T 4: 123,216,687 (GRCm39) N231K probably damaging Het
Pak6 C T 2: 118,520,243 (GRCm39) T78M probably benign Het
Pde4dip T C 3: 97,649,841 (GRCm39) Y1006C probably damaging Het
Psg18 A G 7: 18,084,880 (GRCm39) I193T probably benign Het
Psmd2 C A 16: 20,479,173 (GRCm39) H677Q probably benign Het
Resf1 T A 6: 149,229,766 (GRCm39) C937* probably null Het
Scaf11 C T 15: 96,316,195 (GRCm39) R1123H probably damaging Het
Setx A T 2: 29,051,555 (GRCm39) S2036C probably damaging Het
Skint6 A G 4: 113,093,546 (GRCm39) F199S probably damaging Het
Slc3a2 A T 19: 8,686,594 (GRCm39) S367R probably damaging Het
Spidr T C 16: 15,871,304 (GRCm39) D222G probably damaging Het
Styxl1 T C 5: 135,799,190 (GRCm39) E8G probably null Het
Sycp2l T A 13: 41,295,256 (GRCm39) F308I probably damaging Het
Syk A C 13: 52,778,808 (GRCm39) K298T probably benign Het
Tcp11 T A 17: 28,286,028 (GRCm39) Q529L possibly damaging Het
Tgfbi A G 13: 56,762,100 (GRCm39) Y61C probably damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Top2a A C 11: 98,914,883 (GRCm39) S4A probably benign Het
Ttc4 G T 4: 106,528,919 (GRCm39) H166N probably benign Het
Ube2o C A 11: 116,435,639 (GRCm39) R383L possibly damaging Het
Umod A G 7: 119,076,517 (GRCm39) V83A possibly 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
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
R9777:Ndufa12 UTSW 10 94,056,692 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTAGAGGTGTACAAGCAGCG -3'
(R):5'- TGCATGATGTCAAAACTAGACTCTG -3'

Sequencing Primer
(F):5'- GAGCATCCCCCGTAGCATCTC -3'
(R):5'- TTCCAGAGGTCCTGAGTTCAAAC -3'
Posted On 2022-10-06