Incidental Mutation 'R7068:Ndufa8'
ID 548668
Institutional Source Beutler Lab
Gene Symbol Ndufa8
Ensembl Gene ENSMUSG00000026895
Gene Name NADH:ubiquinone oxidoreductase subunit A8
Synonyms 0610033L03Rik
MMRRC Submission 045164-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 35926336-35939350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35934447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 44 (M44V)
Ref Sequence ENSEMBL: ENSMUSP00000065352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070112]
AlphaFold Q9DCJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000070112
AA Change: M44V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: M44V

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
Acsm1 A G 7: 119,221,803 (GRCm39) H24R probably benign Het
Ago2 A T 15: 73,018,299 (GRCm39) F46L probably damaging Het
Amd1 A G 10: 40,166,508 (GRCm39) F123L probably benign Het
Arhgef10 T C 8: 15,008,639 (GRCm39) F546L probably damaging Het
Asic2 G A 11: 81,043,081 (GRCm39) H71Y probably benign Het
Asphd1 A G 7: 126,547,850 (GRCm39) V151A probably benign Het
Best3 T C 10: 116,824,543 (GRCm39) V3A probably damaging Het
C4b A G 17: 34,952,451 (GRCm39) L1196P probably damaging Het
Cd22 A G 7: 30,577,504 (GRCm39) V3A probably benign Het
Cdkl3 T C 11: 51,902,154 (GRCm39) probably null Het
Clcnka A T 4: 141,114,421 (GRCm39) V631E probably damaging Het
Cmya5 A G 13: 93,229,205 (GRCm39) V1961A possibly damaging Het
Dnah14 A G 1: 181,597,355 (GRCm39) E3559G probably benign Het
Emsy A T 7: 98,259,968 (GRCm39) D39E probably benign Het
Fbxl16 G T 17: 26,038,485 (GRCm39) V477F possibly damaging Het
Flt1 A T 5: 147,610,444 (GRCm39) I393N probably damaging Het
Gabra4 A T 5: 71,729,402 (GRCm39) N433K probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Ghsr T A 3: 27,425,986 (GRCm39) V14D probably benign Het
Glb1l A G 1: 75,179,381 (GRCm39) Y183H probably damaging Het
Hycc1 A G 5: 24,169,793 (GRCm39) S519P possibly damaging Het
Ighv3-4 T C 12: 114,217,274 (GRCm39) T106A probably damaging Het
Ik T G 18: 36,888,518 (GRCm39) F439V possibly damaging Het
Itih5 T C 2: 10,254,115 (GRCm39) S789P probably damaging Het
Kcnj8 T C 6: 142,511,965 (GRCm39) D214G probably damaging Het
Kdm5a C A 6: 120,407,176 (GRCm39) H1464N probably benign Het
Klb A T 5: 65,536,683 (GRCm39) Y671F probably damaging Het
Kremen2 C A 17: 23,960,859 (GRCm39) R421L possibly damaging Het
Mroh9 T A 1: 162,866,750 (GRCm39) D662V probably damaging Het
Mtmr12 T G 15: 12,257,756 (GRCm39) M278R probably null Het
Nedd4l A T 18: 65,338,722 (GRCm39) R695S probably damaging Het
Nuf2 G A 1: 169,349,988 (GRCm39) P97S probably damaging Het
Or14c46 A C 7: 85,918,745 (GRCm39) L84R probably damaging Het
Or2ah1 T C 2: 85,653,396 (GRCm39) V27A probably benign Het
Or5ac24 T C 16: 59,165,567 (GRCm39) T166A possibly damaging Het
P4ha2 A G 11: 54,001,820 (GRCm39) T33A probably benign Het
Parp1 A G 1: 180,416,233 (GRCm39) H544R probably damaging Het
Plec A G 15: 76,061,969 (GRCm39) L2678P probably damaging Het
Rad1 T A 15: 10,490,379 (GRCm39) Y85* probably null Het
Sema6d A G 2: 124,499,741 (GRCm39) I309V probably benign Het
Skint2 T C 4: 112,481,548 (GRCm39) V137A probably damaging Het
Slc23a3 T C 1: 75,109,877 (GRCm39) N130S probably benign Het
Slc35f1 T C 10: 52,938,596 (GRCm39) F176S probably damaging Het
Slc44a2 T A 9: 21,232,144 (GRCm39) Y10N probably benign Het
Smarcc1 A G 9: 110,014,952 (GRCm39) T506A probably damaging Het
Smchd1 A T 17: 71,694,087 (GRCm39) S1219R probably benign Het
Smco1 A G 16: 32,092,929 (GRCm39) N200S probably benign Het
Srcap A G 7: 127,141,115 (GRCm39) T1571A probably benign Het
Strip2 C T 6: 29,932,207 (GRCm39) T459I probably benign Het
Tarbp1 C T 8: 127,153,773 (GRCm39) A1560T probably damaging Het
Tcl1b1 T A 12: 105,125,952 (GRCm39) probably benign Het
Tdrd5 T C 1: 156,111,841 (GRCm39) E436G probably damaging Het
Trim31 T A 17: 37,209,408 (GRCm39) C55S probably damaging Het
Tsr1 G T 11: 74,794,745 (GRCm39) E467* probably null Het
Tulp4 T A 17: 6,235,564 (GRCm39) D178E probably damaging Het
Vmn1r30 A G 6: 58,411,995 (GRCm39) V279A possibly damaging Het
Vmn2r98 A G 17: 19,285,575 (GRCm39) R132G 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
R6186:Ndufa8 UTSW 2 35,929,752 (GRCm39) missense probably benign 0.16
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'- CTTAATTAGCCGGAAGTCACTTC -3'
(R):5'- GGGGATGTTTCTGGAAGACAC -3'

Sequencing Primer
(F):5'- AGTCACTTCCTCATTTTAGAATATGC -3'
(R):5'- AGCTGTGATAGTTAAGCACTCAG -3'
Posted On 2019-05-13