Incidental Mutation 'IGL00886:Polr3g'
ID28815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3g
Ensembl Gene ENSMUSG00000035834
Gene Namepolymerase (RNA) III (DNA directed) polypeptide G
SynonymsRPC32, 2310047G20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00886
Quality Score
Status
Chromosome13
Chromosomal Location81673843-81711013 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81694677 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 73 (Y73C)
Ref Sequence ENSEMBL: ENSMUSP00000035289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048993] [ENSMUST00000161920]
Predicted Effect probably damaging
Transcript: ENSMUST00000048993
AA Change: Y73C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035289
Gene: ENSMUSG00000035834
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 223 7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161093
SMART Domains Protein: ENSMUSP00000124885
Gene: ENSMUSG00000035834

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 83 1.6e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161920
AA Change: Y73C

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125054
Gene: ENSMUSG00000035834
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 105 1e-13 PFAM
transmembrane domain 136 158 N/A INTRINSIC
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
Ndufc2 T A 7: 97,400,190 M1K probably null 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
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 Polr3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Polr3g APN 13 81682119 missense possibly damaging 0.93
R0118:Polr3g UTSW 13 81676121 unclassified probably benign
R0550:Polr3g UTSW 13 81694773 missense probably damaging 0.99
R3725:Polr3g UTSW 13 81694635 missense probably damaging 0.99
R6536:Polr3g UTSW 13 81678216 missense unknown
R6684:Polr3g UTSW 13 81699531 intron probably null
R7645:Polr3g UTSW 13 81694444 missense unknown
Posted On2013-04-17