Incidental Mutation 'IGL00833:Polr3gl'
ID13095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3gl
Ensembl Gene ENSMUSG00000028104
Gene Namepolymerase (RNA) III (DNA directed) polypeptide G like
Synonyms2010003I19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL00833
Quality Score
Status
Chromosome3
Chromosomal Location96577872-96594181 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 96578560 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 130 (D130A)
Ref Sequence ENSEMBL: ENSMUSP00000118943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091924] [ENSMUST00000145001] [ENSMUST00000148290]
Predicted Effect probably damaging
Transcript: ENSMUST00000091924
AA Change: D200A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104
AA Change: D200A

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 217 2.8e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141579
Predicted Effect probably damaging
Transcript: ENSMUST00000145001
AA Change: D130A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104
AA Change: D130A

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 148 4.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148290
SMART Domains Protein: ENSMUSP00000122904
Gene: ENSMUSG00000087610

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,217,180 E350G probably damaging Het
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Cd209e A C 8: 3,852,800 M102R probably benign Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
Gp5 T C 16: 30,309,466 D130G possibly damaging Het
H2-T3 T G 17: 36,187,041 S327R probably benign Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Tmco5b T A 2: 113,296,849 I255N probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in Polr3gl
AlleleSourceChrCoordTypePredicted EffectPPH Score
babystep UTSW 3 96580508 critical splice acceptor site probably null
PIT1430001:Polr3gl UTSW 3 96580912 unclassified probably benign
R0675:Polr3gl UTSW 3 96582155 missense probably damaging 1.00
R1512:Polr3gl UTSW 3 96580874 missense probably benign 0.02
R2385:Polr3gl UTSW 3 96578546 missense probably damaging 1.00
R4938:Polr3gl UTSW 3 96579892 missense probably benign 0.02
R5120:Polr3gl UTSW 3 96578479 intron probably benign
R7000:Polr3gl UTSW 3 96580467 missense possibly damaging 0.80
R7499:Polr3gl UTSW 3 96579821 missense probably benign 0.42
R7942:Polr3gl UTSW 3 96582236 splice site probably null
R8128:Polr3gl UTSW 3 96580508 critical splice acceptor site probably null
R8289:Polr3gl UTSW 3 96581912 unclassified probably benign
Posted On2012-12-06