Incidental Mutation 'R6186:Ndufa8'
ID 502152
Institutional Source Beutler Lab
Gene Symbol Ndufa8
Ensembl Gene ENSMUSG00000026895
Gene Name NADH:ubiquinone oxidoreductase subunit A8
Synonyms 0610033L03Rik
MMRRC Submission 044326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 35926336-35939350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35929752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 118 (V118A)
Ref Sequence ENSEMBL: ENSMUSP00000065352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070112]
AlphaFold Q9DCJ5
Predicted Effect probably benign
Transcript: ENSMUST00000070112
AA Change: V118A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: V118A

DomainStartEndE-ValueType
low complexity region 5 29 N/A INTRINSIC
Pfam:CHCH 78 113 3.6e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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 belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,298,502 (GRCm39) S409P probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akap8l C T 17: 32,552,018 (GRCm39) V420I probably benign Het
Ankrd36 T G 11: 5,593,812 (GRCm39) D472E possibly damaging Het
Apbb1 T C 7: 105,216,933 (GRCm39) E250G probably damaging Het
Cacna2d4 G A 6: 119,258,650 (GRCm39) E579K possibly damaging Het
Capn7 G T 14: 31,092,875 (GRCm39) G780W probably damaging Het
Celsr1 T C 15: 85,805,394 (GRCm39) E2419G possibly damaging Het
Cep164 A T 9: 45,705,407 (GRCm39) S363R probably damaging Het
Cfap221 T A 1: 119,862,340 (GRCm39) I581F probably damaging Het
Cog2 C A 8: 125,273,425 (GRCm39) T588N probably damaging Het
Cyp2a5 T C 7: 26,542,813 (GRCm39) probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Evx1 T C 6: 52,291,203 (GRCm39) probably null Het
Fam186a T C 15: 99,845,206 (GRCm39) H346R unknown Het
Fam53b T A 7: 132,317,445 (GRCm39) D399V possibly damaging Het
Fcho2 T A 13: 98,951,591 (GRCm39) N9I probably benign Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fkbpl T C 17: 34,865,153 (GRCm39) F307S probably benign Het
Fn1 A G 1: 71,676,449 (GRCm39) I594T probably damaging Het
Inpp4b T A 8: 82,772,863 (GRCm39) V719E probably damaging Het
Ldlr C T 9: 21,635,055 (GRCm39) probably benign Het
Macf1 A G 4: 123,377,968 (GRCm39) V1419A probably damaging Het
Mapkap1 A G 2: 34,453,126 (GRCm39) T340A possibly damaging Het
Mark2 A G 19: 7,260,567 (GRCm39) V403A probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Mrtfa T C 15: 80,900,853 (GRCm39) K546R probably damaging Het
Myo1h C T 5: 114,457,864 (GRCm39) T125I possibly damaging Het
Nphs1 A G 7: 30,165,059 (GRCm39) T551A probably damaging Het
Or2k2 T C 4: 58,784,948 (GRCm39) Y258C probably damaging Het
Or4k15c T A 14: 50,321,982 (GRCm39) D52V probably damaging Het
Pcm1 T C 8: 41,746,830 (GRCm39) L1343P probably benign Het
Pdcd1 T A 1: 93,967,846 (GRCm39) R202* probably null Het
Pramel52-ps T A 5: 94,531,835 (GRCm39) Y240N probably benign Het
Prkab2 A G 3: 97,571,307 (GRCm39) probably null Het
Ptdss2 T C 7: 140,734,862 (GRCm39) probably benign Het
Rap1b G T 10: 117,656,457 (GRCm39) F78L probably damaging Het
Rbl2 C T 8: 91,833,358 (GRCm39) T711I probably damaging Het
Rhobtb2 A G 14: 70,035,693 (GRCm39) I126T probably damaging Het
Rimoc1 C A 15: 4,015,851 (GRCm39) D238Y possibly damaging Het
Rnf123 A C 9: 107,947,157 (GRCm39) S210A possibly damaging Het
Shank1 T A 7: 44,001,990 (GRCm39) F1228L probably benign Het
Spata31f3 T C 4: 42,872,000 (GRCm39) K125R possibly damaging Het
Sumo1 C A 1: 59,683,729 (GRCm39) V38L probably benign Het
Sycp2 C T 2: 178,025,353 (GRCm39) S363N probably damaging Het
Tbx2 G T 11: 85,728,672 (GRCm39) E352* probably null Het
Timm44 T C 8: 4,316,824 (GRCm39) N270D probably damaging Het
Topaz1 A T 9: 122,577,891 (GRCm39) Q267L probably benign Het
Trp63 T C 16: 25,695,483 (GRCm39) probably benign Het
Ushbp1 T A 8: 71,843,647 (GRCm39) T264S possibly damaging Het
Vav3 A G 3: 109,423,383 (GRCm39) Y334C probably damaging Het
Wdr36 G C 18: 32,985,954 (GRCm39) A553P probably benign Het
Zfhx2 A T 14: 55,300,617 (GRCm39) I2378K probably damaging Het
Zfp276 T A 8: 123,982,672 (GRCm39) Y145* probably null Het
Zfp458 T C 13: 67,405,701 (GRCm39) E246G probably damaging Het
Zfp526 A G 7: 24,925,561 (GRCm39) T607A probably benign Het
Other mutations in Ndufa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Ndufa8 APN 2 35,934,467 (GRCm39) missense probably damaging 0.99
IGL02603:Ndufa8 APN 2 35,934,470 (GRCm39) missense probably damaging 1.00
R0322:Ndufa8 UTSW 2 35,926,634 (GRCm39) missense probably benign 0.11
R2161:Ndufa8 UTSW 2 35,926,527 (GRCm39) missense probably damaging 1.00
R2287:Ndufa8 UTSW 2 35,926,554 (GRCm39) missense probably benign 0.36
R3001:Ndufa8 UTSW 2 35,926,571 (GRCm39) missense possibly damaging 0.83
R3002:Ndufa8 UTSW 2 35,926,571 (GRCm39) missense possibly damaging 0.83
R7068:Ndufa8 UTSW 2 35,934,447 (GRCm39) missense possibly damaging 0.95
R8536:Ndufa8 UTSW 2 35,939,312 (GRCm39) start gained probably benign
R9558:Ndufa8 UTSW 2 35,926,605 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTGTTAGAACATGCCAAGTCCTC -3'
(R):5'- TTTGACATCTCTGCCTGTGG -3'

Sequencing Primer
(F):5'- CCTTTGTCTGGTGAATAGGGACAAC -3'
(R):5'- CTATCTCTGTTTTGTGAGGAGCTATC -3'
Posted On 2018-02-27