Incidental Mutation 'IGL02474:Polr2g'
ID294878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr2g
Ensembl Gene ENSMUSG00000071662
Gene Namepolymerase (RNA) II (DNA directed) polypeptide G
Synonyms2410046K11Rik, RBP7, A230108L04Rik, Rpo2-7l
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02474
Quality Score
Status
Chromosome19
Chromosomal Location8793129-8798557 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) C to A at 8798456 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]
Predicted Effect probably null
Transcript: ENSMUST00000096261
SMART Domains Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662

DomainStartEndE-ValueType
Pfam:SHS2_Rpb7-N 8 77 1e-18 PFAM
S1 80 162 1.75e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172175
SMART Domains Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
BTB 24 123 4.37e-21 SMART
low complexity region 207 225 N/A INTRINSIC
low complexity region 273 292 N/A INTRINSIC
low complexity region 386 406 N/A INTRINSIC
ZnF_C2H2 418 440 7.55e-1 SMART
ZnF_C2H2 446 469 3.11e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 13,818,229 E283G probably damaging Het
Ahnak A G 19: 9,004,933 I1194V probably benign Het
Aqr T A 2: 114,112,646 N1149Y probably damaging Het
Bms1 T C 6: 118,416,519 I131V probably benign Het
Cacna1s A C 1: 136,118,380 T1461P probably benign Het
Chrnb3 T C 8: 27,393,369 S113P probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Cramp1l A G 17: 24,985,050 V318A probably damaging Het
Csf2ra A G 19: 61,226,537 V163A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ctnnd2 A G 15: 30,669,562 D439G possibly damaging Het
Dnah11 T A 12: 118,027,445 probably null Het
Dyrk4 C A 6: 126,880,231 C495F probably damaging Het
Gabra6 A G 11: 42,307,417 V402A probably benign Het
Gba2 T C 4: 43,568,538 M643V possibly damaging Het
Gbp9 A T 5: 105,094,567 probably benign Het
Ginm1 A G 10: 7,777,768 probably benign Het
Git1 T A 11: 77,503,391 D282E probably damaging Het
Gm5799 T C 14: 43,544,629 I86T probably damaging Het
Gm9894 T C 13: 67,765,094 noncoding transcript Het
Gng12 A G 6: 67,015,761 K4R probably benign Het
Hnrnpul1 A T 7: 25,726,757 D556E probably benign Het
Kat6b T A 14: 21,669,039 L1153Q possibly damaging Het
Ly75 A T 2: 60,383,182 L17Q probably null Het
Mc5r T C 18: 68,338,839 F90L probably damaging Het
Olfr1356 A T 10: 78,847,063 M284K probably damaging Het
Olfr175-ps1 A T 16: 58,824,656 S18T probably benign Het
Olfr524 T C 7: 140,202,587 Y61C probably damaging Het
Olfr54 C A 11: 51,027,365 A121D probably damaging Het
Olfr877 A T 9: 37,855,360 I181L probably benign Het
Pi4ka A T 16: 17,325,429 Y6N probably damaging Het
Psme3 A G 11: 101,317,654 Q82R probably benign Het
Rab11a G T 9: 64,726,647 T17K possibly damaging Het
Rbm12 A T 2: 156,098,097 L85Q probably damaging Het
Skap1 A T 11: 96,708,686 Y188F probably damaging Het
Tmprss6 A T 15: 78,442,336 F34I probably damaging Het
Trip12 A C 1: 84,794,133 I98S probably benign Het
Ttn T C 2: 76,878,188 probably benign Het
Ube2t A T 1: 134,971,341 K21* probably null Het
Vmn1r216 T C 13: 23,099,477 V110A possibly damaging Het
Vmn2r109 A T 17: 20,540,888 F736I probably benign Het
Vps13c A G 9: 67,937,876 T2081A probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Polr2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Polr2g APN 19 8794376 splice site probably benign
IGL03346:Polr2g APN 19 8798305 missense probably damaging 1.00
R0014:Polr2g UTSW 19 8793652 missense probably damaging 0.99
R0015:Polr2g UTSW 19 8793652 missense probably damaging 0.99
R0015:Polr2g UTSW 19 8793652 missense probably damaging 0.99
R5372:Polr2g UTSW 19 8797303 missense probably damaging 1.00
R6073:Polr2g UTSW 19 8797309 missense probably damaging 0.99
R6177:Polr2g UTSW 19 8794177 missense probably damaging 1.00
R8213:Polr2g UTSW 19 8798257 missense probably damaging 1.00
Posted On2015-04-16