Incidental Mutation 'R7081:Ndufv3'
ID 549561
Institutional Source Beutler Lab
Gene Symbol Ndufv3
Ensembl Gene ENSMUSG00000024038
Gene Name NADH:ubiquinone oxidoreductase core subunit V3
Synonyms 1500032D16Rik
MMRRC Submission 045175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 31739089-31750300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31746407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 99 (P99L)
Ref Sequence ENSEMBL: ENSMUSP00000049000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046288] [ENSMUST00000064798] [ENSMUST00000191598]
AlphaFold Q8BK30
Predicted Effect possibly damaging
Transcript: ENSMUST00000046288
AA Change: P99L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049000
Gene: ENSMUSG00000024038
AA Change: P99L

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
Pfam:NDUFV3 427 461 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064798
SMART Domains Protein: ENSMUSP00000066303
Gene: ENSMUSG00000024038

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191598
SMART Domains Protein: ENSMUSP00000140032
Gene: ENSMUSG00000024038

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,361,951 (GRCm39) H337L possibly damaging Het
Abcb4 T A 5: 8,984,263 (GRCm39) N664K probably benign Het
Adh7 A G 3: 137,934,606 (GRCm39) D343G probably benign Het
Als2cl G A 9: 110,723,650 (GRCm39) R682Q possibly damaging Het
Angptl6 A C 9: 20,786,644 (GRCm39) I334R probably damaging Het
Ankrd45 A G 1: 160,978,863 (GRCm39) N101D probably benign Het
Arhgef10 C T 8: 15,047,547 (GRCm39) Q1137* probably null Het
Asap3 T A 4: 135,968,881 (GRCm39) probably null Het
Bmp2k T C 5: 97,212,820 (GRCm39) S568P unknown Het
C4b A C 17: 34,954,417 (GRCm39) F917L probably benign Het
Cacna1e A T 1: 154,576,129 (GRCm39) V168E possibly damaging Het
Ccdc60 T A 5: 116,264,146 (GRCm39) I543F probably benign Het
Cd36 T C 5: 18,019,702 (GRCm39) D133G probably damaging Het
Chd4 T C 6: 125,106,948 (GRCm39) V1911A unknown Het
Cplx4 A T 18: 66,100,538 (GRCm39) probably null Het
Cyp1a2 A T 9: 57,586,272 (GRCm39) D415E possibly damaging Het
Cyp3a57 T C 5: 145,318,183 (GRCm39) I388T probably damaging Het
Dnajc5b T C 3: 19,601,025 (GRCm39) probably null Het
Dock4 A T 12: 40,671,285 (GRCm39) I35F probably damaging Het
Efna4 A T 3: 89,241,601 (GRCm39) L206Q unknown Het
Eif2a T C 3: 58,449,139 (GRCm39) probably null Het
Fam120a A G 13: 49,063,801 (GRCm39) F612L probably damaging Het
Fbxw21 A G 9: 108,990,990 (GRCm39) L23P probably damaging Het
Fcamr A T 1: 130,740,949 (GRCm39) E456V probably damaging Het
Fkbp8 G A 8: 70,983,644 (GRCm39) R106H probably benign Het
Galr2 T A 11: 116,173,874 (GRCm39) L168Q probably damaging Het
Gm11111 C T 5: 98,701,399 (GRCm39) S22L unknown Het
Gnpat T C 8: 125,590,008 (GRCm39) F11S possibly damaging Het
H2-T24 A T 17: 36,328,344 (GRCm39) D46E probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Ifna12 T C 4: 88,521,440 (GRCm39) R36G probably damaging Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Kif5c T A 2: 49,631,373 (GRCm39) D683E probably benign Het
Krit1 T C 5: 3,873,651 (GRCm39) Y477H possibly damaging Het
Lipm T A 19: 34,098,723 (GRCm39) V399D possibly damaging Het
Lrguk A T 6: 34,079,074 (GRCm39) T770S probably benign Het
Lrrc37a T C 11: 103,348,781 (GRCm39) N2638S unknown Het
Lrrc40 T C 3: 157,742,442 (GRCm39) V27A probably damaging Het
Map4k1 T C 7: 28,690,574 (GRCm39) V355A probably benign Het
Mylk3 T C 8: 86,091,422 (GRCm39) I128V probably benign Het
Myo1c A G 11: 75,551,789 (GRCm39) D289G probably benign Het
Mypn A G 10: 62,970,737 (GRCm39) F889S probably damaging Het
Nlrp10 A C 7: 108,523,855 (GRCm39) S542A probably benign Het
Noc2l T A 4: 156,331,477 (GRCm39) D718E possibly damaging Het
Ntng1 T A 3: 109,759,105 (GRCm39) I355F probably benign Het
Nup210 A G 6: 91,037,647 (GRCm39) V742A possibly damaging Het
Nup50l A G 6: 96,142,798 (GRCm39) V82A possibly damaging Het
Olig2 T A 16: 91,023,307 (GRCm39) L7Q probably damaging Het
Or51f23b A T 7: 102,402,395 (GRCm39) I247N probably benign Het
Or8u10 A T 2: 85,915,939 (GRCm39) F61I probably damaging Het
Parpbp A T 10: 87,929,517 (GRCm39) W444R probably damaging Het
Plekhg3 A G 12: 76,625,019 (GRCm39) E1287G probably benign Het
Pramel16 T C 4: 143,675,848 (GRCm39) D326G probably damaging Het
Pramel56 T A 5: 95,022,641 (GRCm39) N107K possibly damaging Het
Prrc2b A T 2: 32,103,075 (GRCm39) Q851L probably benign Het
Psg21 C T 7: 18,388,774 (GRCm39) W106* probably null Het
Rab18 T G 18: 6,778,529 (GRCm39) D53E probably benign Het
Rbm19 T A 5: 120,261,216 (GRCm39) probably null Het
Rhobtb1 T C 10: 69,102,127 (GRCm39) V136A probably benign Het
Rsph4a G A 10: 33,785,189 (GRCm39) V367I probably damaging Het
Sec24b T C 3: 129,781,391 (GRCm39) N1161S probably benign Het
Sgcd C A 11: 47,016,428 (GRCm39) G145* probably null Het
Sin3a A G 9: 57,001,755 (GRCm39) K134R probably null Het
Slc9b2 A G 3: 135,027,698 (GRCm39) E108G probably benign Het
Stk24 A T 14: 121,531,706 (GRCm39) S317T probably benign Het
Stra8 T A 6: 34,911,302 (GRCm39) probably null Het
Tmem131 A G 1: 36,928,376 (GRCm39) V71A possibly damaging Het
Tmem87a T C 2: 120,211,264 (GRCm39) D227G possibly damaging Het
Vnn1 T A 10: 23,770,903 (GRCm39) L44M possibly damaging Het
Wdr20 G A 12: 110,769,884 (GRCm39) V160I possibly damaging Het
Zfand4 T A 6: 116,292,581 (GRCm39) N667K possibly damaging Het
Zfp1005 A G 2: 150,110,189 (GRCm39) H293R possibly damaging Het
Zfp609 A G 9: 65,609,723 (GRCm39) V1080A possibly damaging Het
Zhx1 C T 15: 57,917,734 (GRCm39) V171I probably benign Het
Other mutations in Ndufv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Ndufv3 APN 17 31,746,460 (GRCm39) missense possibly damaging 0.92
IGL01974:Ndufv3 APN 17 31,740,583 (GRCm39) missense probably benign 0.00
IGL02616:Ndufv3 APN 17 31,746,643 (GRCm39) missense probably damaging 0.98
R1823:Ndufv3 UTSW 17 31,750,219 (GRCm39) missense probably damaging 0.96
R1824:Ndufv3 UTSW 17 31,750,219 (GRCm39) missense probably damaging 0.96
R2095:Ndufv3 UTSW 17 31,746,460 (GRCm39) missense possibly damaging 0.92
R4852:Ndufv3 UTSW 17 31,747,043 (GRCm39) missense probably benign
R5791:Ndufv3 UTSW 17 31,746,382 (GRCm39) missense probably benign 0.12
R5914:Ndufv3 UTSW 17 31,750,206 (GRCm39) nonsense probably null
R7570:Ndufv3 UTSW 17 31,746,596 (GRCm39) missense probably damaging 0.98
R8949:Ndufv3 UTSW 17 31,746,742 (GRCm39) missense possibly damaging 0.61
R9296:Ndufv3 UTSW 17 31,739,197 (GRCm39) missense probably benign
R9587:Ndufv3 UTSW 17 31,747,106 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAACATGCTGGTACGCAATG -3'
(R):5'- TCTGAATCTGAGGAGCTGGATG -3'

Sequencing Primer
(F):5'- CATGCTGGTACGCAATGAAATGTC -3'
(R):5'- TGAGGAAGATGAAGATGAATCGTTTG -3'
Posted On 2019-05-15