Incidental Mutation 'IGL02127:Papolg'
ID280934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papolg
Ensembl Gene ENSMUSG00000020273
Gene Namepoly(A) polymerase gamma
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02127
Quality Score
Status
Chromosome11
Chromosomal Location23862646-23895253 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 23870870 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020513] [ENSMUST00000102863]
Predicted Effect probably benign
Transcript: ENSMUST00000020513
SMART Domains Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273

DomainStartEndE-ValueType
Pfam:PAP_central 20 363 1.4e-118 PFAM
Pfam:NTP_transf_2 53 174 2.8e-15 PFAM
Pfam:PAP_RNA-bind 365 431 2.4e-22 PFAM
Pfam:PAP_RNA-bind 421 506 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102863
SMART Domains Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273

DomainStartEndE-ValueType
Pfam:PAP_central 16 364 1.5e-111 PFAM
Pfam:NTP_transf_2 89 174 9.2e-12 PFAM
Pfam:PAP_RNA-bind 365 429 6.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145013
SMART Domains Protein: ENSMUSP00000115518
Gene: ENSMUSG00000020273

DomainStartEndE-ValueType
SCOP:d1f5aa1 2 29 3e-10 SMART
PDB:4LT6|B 2 38 4e-16 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150711
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 a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,897,880 M661K probably benign Het
Arpin G A 7: 79,928,193 R163W probably benign Het
Atm C A 9: 53,487,983 D1573Y probably damaging Het
Avil A G 10: 127,011,826 N540S probably benign Het
Btnl6 T C 17: 34,514,043 Q282R probably benign Het
Cacna2d3 T C 14: 29,063,875 probably benign Het
Cd300ld4 T C 11: 115,022,719 N170S probably benign Het
Cgnl1 T A 9: 71,725,853 N72I probably damaging Het
Cntnap3 T C 13: 64,799,064 probably benign Het
Col27a1 A T 4: 63,225,142 T356S possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c69 G T 19: 39,851,057 T374N probably damaging Het
Cyp2d26 T C 15: 82,791,106 E349G probably benign Het
Dnah1 T C 14: 31,304,928 E713G probably benign Het
Dnah7b A T 1: 46,139,875 T903S probably benign Het
Enthd1 T C 15: 80,452,742 D497G probably damaging Het
Grk4 C T 5: 34,710,186 T165I probably benign Het
Hmcn1 G A 1: 150,722,607 S1648L probably benign Het
Ints11 A G 4: 155,886,863 Y278C probably damaging Het
Kcnu1 T C 8: 25,892,062 L480P probably damaging Het
Kif1bp C T 10: 62,578,349 R10H probably benign Het
Kif5c G A 2: 49,701,110 probably null Het
Klhl35 T C 7: 99,471,681 probably benign Het
Lemd3 A T 10: 120,926,028 D807E possibly damaging Het
Lrrc37a G A 11: 103,504,539 T20I probably benign Het
Mab21l1 C T 3: 55,783,595 A201V probably benign Het
Mab21l2 T C 3: 86,546,817 D292G possibly damaging Het
Map3k21 T C 8: 125,942,147 L824P probably benign Het
Myo5a T C 9: 75,212,981 V1687A probably benign Het
Myo5c G T 9: 75,300,902 W1639C probably damaging Het
Nfya G T 17: 48,393,255 probably benign Het
Olfr1249 A G 2: 89,630,754 I48T probably damaging Het
Pcdh8 G A 14: 79,769,246 R626C probably damaging Het
Pclo T C 5: 14,765,145 probably benign Het
Pogz T C 3: 94,874,703 probably benign Het
Polg G A 7: 79,458,167 probably benign Het
Scn9a A T 2: 66,494,826 I1317K probably damaging Het
Scn9a A G 2: 66,547,135 V401A probably damaging Het
St7 T A 6: 17,844,969 probably benign Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Trmt1 T C 8: 84,697,471 V400A probably damaging Het
Trrap A G 5: 144,816,433 N1856S probably benign Het
Ube3a G A 7: 59,276,041 G210D probably benign Het
Ubqln5 A G 7: 104,129,482 V45A probably damaging Het
Wdpcp T A 11: 21,711,958 M410K possibly damaging Het
Xpa G A 4: 46,185,606 T124M probably damaging Het
Zpbp2 A G 11: 98,555,541 E172G probably damaging Het
Other mutations in Papolg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Papolg APN 11 23876377 missense possibly damaging 0.93
IGL01016:Papolg APN 11 23885570 missense possibly damaging 0.58
IGL01394:Papolg APN 11 23867235 missense probably benign
IGL01710:Papolg APN 11 23864026 missense probably damaging 0.99
IGL01786:Papolg APN 11 23874488 missense probably damaging 1.00
IGL02008:Papolg APN 11 23879898 missense probably damaging 1.00
IGL02329:Papolg APN 11 23891869 missense probably damaging 0.98
IGL02535:Papolg APN 11 23890245 missense probably benign 0.00
IGL02588:Papolg APN 11 23890252 missense probably damaging 1.00
IGL03058:Papolg APN 11 23895029 missense probably benign 0.00
IGL03301:Papolg APN 11 23874503 missense probably benign 0.05
R0124:Papolg UTSW 11 23867535 missense probably benign 0.21
R0369:Papolg UTSW 11 23872425 critical splice donor site probably null
R0454:Papolg UTSW 11 23879868 splice site probably null
R0743:Papolg UTSW 11 23870818 unclassified probably null
R0931:Papolg UTSW 11 23882257 missense probably damaging 0.96
R1856:Papolg UTSW 11 23867379 missense probably benign 0.06
R1940:Papolg UTSW 11 23867279 missense probably benign 0.00
R2239:Papolg UTSW 11 23876378 missense probably damaging 0.99
R3802:Papolg UTSW 11 23876449 missense probably damaging 1.00
R4275:Papolg UTSW 11 23868378 missense probably benign
R4989:Papolg UTSW 11 23873919 splice site probably null
R5074:Papolg UTSW 11 23867331 missense possibly damaging 0.78
R5122:Papolg UTSW 11 23867501 critical splice donor site probably null
R6048:Papolg UTSW 11 23891815 missense probably benign 0.04
R6365:Papolg UTSW 11 23882290 missense probably damaging 1.00
R6577:Papolg UTSW 11 23879857 critical splice donor site probably benign
R7117:Papolg UTSW 11 23895207 start gained probably benign
R7283:Papolg UTSW 11 23867394 missense not run
R7372:Papolg UTSW 11 23866439 missense probably benign 0.16
Posted On2015-04-16