Incidental Mutation 'R9777:Ndufa12'
ID 733794
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 # R9777 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 94034897-94057302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94056692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 140 (E140G)
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: E136G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022
AA Change: E136G

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: E140G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022
AA Change: E140G

DomainStartEndE-ValueType
Pfam:NDUFA12 40 143 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A C 10: 10,283,214 (GRCm39) M164R possibly damaging Het
Alg10b T A 15: 90,111,656 (GRCm39) C167S probably benign Het
Ap2m1 C A 16: 20,358,113 (GRCm39) R44S probably damaging Het
Atrip T C 9: 108,902,964 (GRCm39) S37G probably benign Het
Bicra C T 7: 15,705,987 (GRCm39) V1485M probably benign Het
Brca2 C T 5: 150,480,579 (GRCm39) T2755I probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Ccdc7a C T 8: 129,618,860 (GRCm39) A895T possibly damaging Het
Cep290 T C 10: 100,354,529 (GRCm39) M871T probably benign Het
Col19a1 A G 1: 24,318,904 (GRCm39) V1062A unknown Het
Col24a1 T A 3: 145,021,103 (GRCm39) Y491* probably null Het
Cyp2c66 A T 19: 39,102,520 (GRCm39) I50F probably benign Het
Dbn1 C A 13: 55,625,639 (GRCm39) R261L probably benign Het
Dlat G A 9: 50,562,208 (GRCm39) A272V probably damaging Het
Dlgap3 A T 4: 127,130,127 (GRCm39) E967V possibly damaging Het
Dnhd1 A G 7: 105,369,456 (GRCm39) M4360V probably benign Het
Dock7 C T 4: 98,877,464 (GRCm39) R1058Q unknown Het
Dpp4 T A 2: 62,195,340 (GRCm39) I313F probably benign Het
Dus1l C T 11: 120,683,858 (GRCm39) V197I possibly damaging Het
Eef2k TATTCATTCATTCATTCATTCATTCATTCA TATTCATTCATTCATTCATTCATTCA 7: 120,499,453 (GRCm39) probably benign Het
Fat3 A G 9: 15,826,537 (GRCm39) S324P probably benign Het
Fkbp9 C T 6: 56,855,181 (GRCm39) H567Y possibly damaging Het
Galnt10 C A 11: 57,672,065 (GRCm39) P452T probably damaging Het
Glb1 A T 9: 114,246,084 (GRCm39) D45V probably damaging Het
Grm1 A T 10: 10,573,826 (GRCm39) V904E possibly damaging Het
Gsdma3 T G 11: 98,526,071 (GRCm39) V274G probably damaging Het
Gsn A G 2: 35,194,600 (GRCm39) E681G probably damaging Het
Hpdl A G 4: 116,678,062 (GRCm39) L133P probably damaging Het
Ighv1-75 A G 12: 115,797,655 (GRCm39) L89P probably damaging Het
Igsf21 T A 4: 139,755,407 (GRCm39) Q416L probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Ildr1 A G 16: 36,528,659 (GRCm39) T35A probably benign Het
Ints13 G T 6: 146,463,326 (GRCm39) H235Q probably damaging Het
Lama4 C T 10: 38,924,101 (GRCm39) T503I probably benign Het
Mapk13 T A 17: 28,997,075 (GRCm39) L289Q probably damaging Het
Med13l T C 5: 118,887,024 (GRCm39) S1642P probably benign Het
Megf6 T A 4: 154,343,617 (GRCm39) S713R probably damaging Het
Mical3 A G 6: 120,959,529 (GRCm39) V922A possibly damaging Het
Mug1 C T 6: 121,857,864 (GRCm39) T1119M probably damaging Het
Myo18a T A 11: 77,733,080 (GRCm39) M1370K possibly damaging Het
Nek4 T A 14: 30,706,401 (GRCm39) D696E probably benign Het
Oas1f A G 5: 120,994,429 (GRCm39) T317A probably benign Het
Or14c39 T C 7: 86,343,988 (GRCm39) V108A probably benign Het
Or2r11 A G 6: 42,437,029 (GRCm39) I308T probably benign Het
Or6c210 T C 10: 129,495,705 (GRCm39) I10T probably benign Het
Pcdh17 C T 14: 84,683,683 (GRCm39) P50L probably benign Het
Pgs1 A G 11: 117,894,256 (GRCm39) E261G probably benign Het
Pira12 T G 7: 3,897,612 (GRCm39) R494S probably damaging Het
Ppp1r1a T C 15: 103,439,857 (GRCm39) E145G possibly damaging Het
Ppp1r37 T C 7: 19,295,783 (GRCm39) E58G probably benign Het
Ptprc A T 1: 138,047,901 (GRCm39) V77E Het
Rhag A G 17: 41,139,416 (GRCm39) E117G probably benign Het
Sh3d19 C T 3: 86,028,483 (GRCm39) S653L probably benign Het
Sirpd C A 3: 15,385,813 (GRCm39) E30* probably null Het
Slc35a5 C T 16: 44,972,939 (GRCm39) probably null Het
Smc4 C T 3: 68,929,655 (GRCm39) R510* probably null Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sp140 A G 1: 85,569,461 (GRCm39) N357S probably damaging Het
Spic T A 10: 88,514,421 (GRCm39) T60S possibly damaging Het
Steap1 C A 5: 5,786,517 (GRCm39) A307S probably benign Het
Stk3 A T 15: 35,114,791 (GRCm39) S40R probably damaging Het
Taar1 T C 10: 23,796,676 (GRCm39) C125R probably damaging Het
Tep1 T A 14: 51,076,443 (GRCm39) K1664* probably null Het
Tmem198b C A 10: 128,638,273 (GRCm39) V97L possibly damaging Het
Xirp2 C A 2: 67,347,379 (GRCm39) P3207T possibly damaging Het
Zbtb38 C G 9: 96,570,355 (GRCm39) S243T possibly damaging Het
Zbtb38 T A 9: 96,570,356 (GRCm39) S243C probably damaging Het
Zfp692 C T 11: 58,199,638 (GRCm39) R76W probably benign Het
Zwilch A T 9: 64,054,170 (GRCm39) L509H 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
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
Predicted Primers PCR Primer
(F):5'- TGCTGCAGTCTGACTTTGACC -3'
(R):5'- CCAGAGATCTATGTCAGTCACCTC -3'

Sequencing Primer
(F):5'- GCAGTCTGACTTTGACCATAACTCAG -3'
(R):5'- CTCCCTCATGTGCGAGC -3'
Posted On 2022-11-14