Incidental Mutation 'IGL00886:Ndufc2'
ID27747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufc2
Ensembl Gene ENSMUSG00000030647
Gene NameNADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2
Synonyms1810004I06Rik, 2010300P09Rik, 14.5b subunit of the NADH-ubiquinone dehydrogenase complex, G1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00886
Quality Score
Status
Chromosome7
Chromosomal Location97400003-97407802 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 97400190 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000032882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032882] [ENSMUST00000149122]
Predicted Effect probably null
Transcript: ENSMUST00000032882
AA Change: M1K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032882
Gene: ENSMUSG00000030647
AA Change: M1K

DomainStartEndE-ValueType
Pfam:NDUF_C2 8 120 3.4e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149122
AA Change: M1K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,163,275 R67H possibly damaging Het
Ak4 G T 4: 101,447,189 E59* probably null Het
Ano10 T C 9: 122,271,324 N116S probably benign Het
Arid1b T A 17: 5,126,979 H658Q probably damaging Het
Atf2 G A 2: 73,845,503 T208I possibly damaging Het
Bco1 T C 8: 117,130,637 W448R probably damaging Het
Cel A T 2: 28,559,385 C277S probably damaging Het
Chd5 T A 4: 152,359,699 D296E probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Fmo9 T C 1: 166,680,145 probably null Het
Gdpgp1 T G 7: 80,239,352 L377R probably damaging Het
Gm26938 T A 5: 139,826,336 D3V probably damaging Het
Gpld1 T A 13: 24,962,353 Y193* probably null Het
Gtf2h4 T C 17: 35,669,982 H265R probably damaging Het
Hadh G T 3: 131,249,816 T83K probably benign Het
Hao1 T C 2: 134,523,159 M183V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ift88 T C 14: 57,478,068 Y523H probably damaging Het
Il23r G T 6: 67,473,890 Q202K possibly damaging Het
Iyd T C 10: 3,540,444 D50A probably benign Het
Katnal2 A T 18: 77,002,754 L248Q probably damaging Het
Krtap26-1 A T 16: 88,647,379 V118E possibly damaging Het
Lzic T C 4: 149,493,296 probably null Het
Mical2 T A 7: 112,315,072 N316K probably benign Het
Net1 A G 13: 3,893,391 probably benign Het
Olfr309 G A 7: 86,307,051 L21F probably damaging Het
Pde1c A G 6: 56,173,674 Y287H probably damaging Het
Pitpnm1 T C 19: 4,110,665 probably null Het
Pla2r1 T A 2: 60,424,324 E1300V probably damaging Het
Polr3g T C 13: 81,694,677 Y73C probably damaging Het
Ryr1 T A 7: 29,024,229 E4137V probably damaging Het
Scrib T C 15: 76,048,794 D1425G possibly damaging Het
Slc25a12 A G 2: 71,344,032 Y23H possibly damaging Het
Spef2 C A 15: 9,663,095 G867W probably damaging Het
Strn3 A T 12: 51,610,150 Y698N probably damaging Het
Tldc1 T C 8: 119,773,268 probably benign Het
Ube3a T A 7: 59,284,737 F533I probably damaging Het
Other mutations in Ndufc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Ndufc2 APN 7 97400283 missense probably damaging 0.97
FR4589:Ndufc2 UTSW 7 97400290 missense probably benign
FR4976:Ndufc2 UTSW 7 97400274 missense probably damaging 0.99
R0437:Ndufc2 UTSW 7 97400337 missense probably benign 0.02
R5046:Ndufc2 UTSW 7 97407664 missense probably damaging 1.00
R6225:Ndufc2 UTSW 7 97406892 missense probably damaging 1.00
R8694:Ndufc2 UTSW 7 97400196 missense probably benign 0.00
RF018:Ndufc2 UTSW 7 97407021 makesense probably null
Posted On2013-04-17