Incidental Mutation 'R5914:Ndufv3'
ID 461232
Institutional Source Beutler Lab
Gene Symbol Ndufv3
Ensembl Gene ENSMUSG00000024038
Gene Name NADH dehydrogenase (ubiquinone) flavoprotein 3
Synonyms 1500032D16Rik
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31520115-31531326 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 31531232 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 99 (R99*)
Ref Sequence ENSEMBL: ENSMUSP00000066303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046288] [ENSMUST00000064798] [ENSMUST00000191598]
AlphaFold Q8BK30
Predicted Effect probably null
Transcript: ENSMUST00000046288
AA Change: R463*
SMART Domains Protein: ENSMUSP00000049000
Gene: ENSMUSG00000024038
AA Change: R463*

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 null
Transcript: ENSMUST00000064798
AA Change: R99*
SMART Domains Protein: ENSMUSP00000066303
Gene: ENSMUSG00000024038
AA Change: R99*

low complexity region 36 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189436
Predicted Effect probably benign
Transcript: ENSMUST00000191598
SMART Domains Protein: ENSMUSP00000140032
Gene: ENSMUSG00000024038

low complexity region 36 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193280
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,538,370 (GRCm38) R286H possibly damaging Het
Ank3 A T 10: 69,992,944 (GRCm38) probably benign Het
Arhgap24 G A 5: 102,552,159 (GRCm38) probably null Het
Arhgef2 T C 3: 88,635,869 (GRCm38) Y396H probably benign Het
Asap3 G T 4: 136,241,409 (GRCm38) G722C probably benign Het
Birc3 A C 9: 7,857,342 (GRCm38) *377E probably null Het
Cdc123 G T 2: 5,798,363 (GRCm38) Q282K possibly damaging Het
Cdkl4 C T 17: 80,547,691 (GRCm38) probably null Het
Cep97 T C 16: 55,905,457 (GRCm38) N689S probably benign Het
Cfap97 T G 8: 46,181,858 (GRCm38) S407A probably damaging Het
Cfh A T 1: 140,136,229 (GRCm38) N436K probably benign Het
Chpf2 A T 5: 24,592,423 (GRCm38) probably benign Het
Cnnm2 A G 19: 46,763,177 (GRCm38) T469A probably benign Het
Col6a3 T A 1: 90,776,200 (GRCm38) I2275F unknown Het
Ctdspl2 A T 2: 121,978,933 (GRCm38) N122Y probably damaging Het
Dcaf6 A T 1: 165,351,155 (GRCm38) C602S probably benign Het
Dda1 T A 8: 71,474,650 (GRCm38) probably benign Het
Dixdc1 T C 9: 50,698,588 (GRCm38) probably benign Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Emilin3 T A 2: 160,909,070 (GRCm38) N253I probably damaging Het
Epg5 T A 18: 77,959,632 (GRCm38) probably null Het
Fam204a A T 19: 60,221,093 (GRCm38) Y68* probably null Het
Fbln5 T G 12: 101,760,743 (GRCm38) D329A possibly damaging Het
Fkbp15 T A 4: 62,327,810 (GRCm38) probably null Het
Fnbp4 C G 2: 90,774,793 (GRCm38) probably benign Het
Foxn2 C A 17: 88,462,710 (GRCm38) probably null Het
Frem1 T C 4: 83,001,775 (GRCm38) D448G probably damaging Het
Fzd9 T C 5: 135,249,345 (GRCm38) Y562C probably benign Het
Gcn1 A G 5: 115,610,135 (GRCm38) silent Het
Gm6003 A G 7: 33,165,266 (GRCm38) noncoding transcript Het
Gnl3 C A 14: 31,016,896 (GRCm38) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,997,940 (GRCm38) probably benign Het
Hk2 C T 6: 82,736,634 (GRCm38) R461K probably benign Het
Ice1 A G 13: 70,606,377 (GRCm38) F530S possibly damaging Het
Ing3 T A 6: 21,968,905 (GRCm38) S129T probably benign Het
Ino80 G A 2: 119,458,216 (GRCm38) S3L probably damaging Het
Ints2 T A 11: 86,222,174 (GRCm38) Q839H probably benign Het
Kcnrg T C 14: 61,611,831 (GRCm38) M247T probably benign Het
Kpna6 T C 4: 129,672,692 (GRCm38) probably benign Het
Krtap28-13 T A 1: 83,061,323 (GRCm38) probably benign Het
Lgr4 T A 2: 109,918,272 (GRCm38) V51E possibly damaging Het
Map3k5 A C 10: 20,104,255 (GRCm38) E836D probably benign Het
Mapk11 T C 15: 89,145,835 (GRCm38) I193V probably benign Het
Marchf10 A T 11: 105,385,482 (GRCm38) V660E probably damaging Het
Matn4 T C 2: 164,393,224 (GRCm38) E435G probably damaging Het
Mre11a G T 9: 14,811,936 (GRCm38) R402M probably damaging Het
Msr1 C T 8: 39,581,827 (GRCm38) G428R probably damaging Het
Nkx6-1 C T 5: 101,663,981 (GRCm38) S85N unknown Het
Nop2 A T 6: 125,134,728 (GRCm38) E141D probably benign Het
Or5b3 A G 19: 13,410,962 (GRCm38) H131R probably benign Het
Or8b1 G C 9: 38,488,361 (GRCm38) E111Q probably damaging Het
Paox T C 7: 140,129,188 (GRCm38) S205P probably damaging Het
Pcdh15 T C 10: 74,630,936 (GRCm38) V995A probably benign Het
Pdcd1 T A 1: 94,040,825 (GRCm38) K161N probably benign Het
Pfkfb2 C A 1: 130,700,095 (GRCm38) V372L probably damaging Het
Phldb1 G A 9: 44,711,651 (GRCm38) T19I probably damaging Het
Pik3c2g G T 6: 139,622,479 (GRCm38) V198L probably benign Het
Pnpla8 T A 12: 44,295,970 (GRCm38) L41* probably null Het
Postn C T 3: 54,373,800 (GRCm38) Q449* probably null Het
Ppp1r3a C T 6: 14,718,989 (GRCm38) S642N probably benign Het
Ptpn23 G A 9: 110,385,443 (GRCm38) probably benign Het
Ptprj T C 2: 90,453,340 (GRCm38) N923S possibly damaging Het
Rai1 T C 11: 60,187,804 (GRCm38) V898A probably benign Het
Rasgef1a A T 6: 118,080,554 (GRCm38) Y72F possibly damaging Het
Serpinb7 T C 1: 107,451,850 (GRCm38) V329A probably damaging Het
Slc24a4 T A 12: 102,234,790 (GRCm38) I311N probably damaging Het
Slc45a1 C A 4: 150,629,540 (GRCm38) L749F possibly damaging Het
Spon1 G A 7: 114,030,821 (GRCm38) D428N probably damaging Het
Tcf7l2 G A 19: 55,898,560 (GRCm38) E2K probably benign Het
Thoc5 A G 11: 4,920,416 (GRCm38) M472V possibly damaging Het
Tm6sf2 T C 8: 70,075,563 (GRCm38) Y121H probably damaging Het
Tmc4 T A 7: 3,672,009 (GRCm38) D221V probably benign Het
Trim30b A T 7: 104,357,365 (GRCm38) S95T probably damaging Het
Trip12 T C 1: 84,763,458 (GRCm38) E571G probably damaging Het
Ttn T C 2: 76,951,312 (GRCm38) probably null Het
Ubp1 A T 9: 113,956,739 (GRCm38) R161W probably benign Het
Usp21 G A 1: 171,282,171 (GRCm38) probably benign Het
Vmn1r61 T A 7: 5,610,530 (GRCm38) R262W probably damaging Het
Vmn2r67 A T 7: 85,151,836 (GRCm38) D297E probably damaging Het
Vwa5a T C 9: 38,741,742 (GRCm38) L784S probably benign Het
Vwc2 G A 11: 11,154,244 (GRCm38) V259M probably damaging Het
Zeb2 T C 2: 44,997,052 (GRCm38) I596M probably benign Het
Zgrf1 T A 3: 127,561,023 (GRCm38) L97H probably damaging Het
Other mutations in Ndufv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Ndufv3 APN 17 31,527,486 (GRCm38) missense possibly damaging 0.92
IGL01974:Ndufv3 APN 17 31,521,609 (GRCm38) missense probably benign 0.00
IGL02616:Ndufv3 APN 17 31,527,669 (GRCm38) missense probably damaging 0.98
R1823:Ndufv3 UTSW 17 31,531,245 (GRCm38) missense probably damaging 0.96
R1824:Ndufv3 UTSW 17 31,531,245 (GRCm38) missense probably damaging 0.96
R2095:Ndufv3 UTSW 17 31,527,486 (GRCm38) missense possibly damaging 0.92
R4852:Ndufv3 UTSW 17 31,528,069 (GRCm38) missense probably benign
R5791:Ndufv3 UTSW 17 31,527,408 (GRCm38) missense probably benign 0.12
R7081:Ndufv3 UTSW 17 31,527,433 (GRCm38) missense possibly damaging 0.80
R7570:Ndufv3 UTSW 17 31,527,622 (GRCm38) missense probably damaging 0.98
R8949:Ndufv3 UTSW 17 31,527,768 (GRCm38) missense possibly damaging 0.61
R9296:Ndufv3 UTSW 17 31,520,223 (GRCm38) missense probably benign
R9587:Ndufv3 UTSW 17 31,528,132 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-28