Incidental Mutation 'IGL00987:Papolg'
| ID |
28674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Papolg
|
| Ensembl Gene |
ENSMUSG00000020273 |
| Gene Name |
poly(A) polymerase gamma |
| Synonyms |
9630006B20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
23812646-23845253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23826377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 259
(Y259F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020513]
[ENSMUST00000102863]
|
| AlphaFold |
Q6PCL9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020513
AA Change: Y259F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: Y259F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000102863
AA Change: Y259F
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273
AA Change: Y259F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Papolg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Papolg
|
APN |
11 |
23,835,570 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01394:Papolg
|
APN |
11 |
23,817,235 (GRCm39) |
missense |
probably benign |
|
|
IGL01710:Papolg
|
APN |
11 |
23,814,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01786:Papolg
|
APN |
11 |
23,824,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Papolg
|
APN |
11 |
23,829,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Papolg
|
APN |
11 |
23,820,870 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02329:Papolg
|
APN |
11 |
23,841,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02535:Papolg
|
APN |
11 |
23,840,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02588:Papolg
|
APN |
11 |
23,840,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Papolg
|
APN |
11 |
23,845,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03301:Papolg
|
APN |
11 |
23,824,503 (GRCm39) |
missense |
probably benign |
0.05 |
|
Runningback
|
UTSW |
11 |
23,823,919 (GRCm39) |
splice site |
probably null |
|
|
R0124:Papolg
|
UTSW |
11 |
23,817,535 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0369:Papolg
|
UTSW |
11 |
23,822,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0454:Papolg
|
UTSW |
11 |
23,829,868 (GRCm39) |
splice site |
probably null |
|
|
R0743:Papolg
|
UTSW |
11 |
23,820,818 (GRCm39) |
splice site |
probably null |
|
|
R0931:Papolg
|
UTSW |
11 |
23,832,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1856:Papolg
|
UTSW |
11 |
23,817,379 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1940:Papolg
|
UTSW |
11 |
23,817,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Papolg
|
UTSW |
11 |
23,826,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3802:Papolg
|
UTSW |
11 |
23,826,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Papolg
|
UTSW |
11 |
23,818,378 (GRCm39) |
missense |
probably benign |
|
|
R4989:Papolg
|
UTSW |
11 |
23,823,919 (GRCm39) |
splice site |
probably null |
|
|
R5074:Papolg
|
UTSW |
11 |
23,817,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5122:Papolg
|
UTSW |
11 |
23,817,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6048:Papolg
|
UTSW |
11 |
23,841,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6365:Papolg
|
UTSW |
11 |
23,832,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Papolg
|
UTSW |
11 |
23,829,857 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7117:Papolg
|
UTSW |
11 |
23,845,207 (GRCm39) |
start gained |
probably benign |
|
|
R7283:Papolg
|
UTSW |
11 |
23,817,394 (GRCm39) |
missense |
not run |
|
|
R7372:Papolg
|
UTSW |
11 |
23,816,439 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7761:Papolg
|
UTSW |
11 |
23,841,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8503:Papolg
|
UTSW |
11 |
23,820,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9212:Papolg
|
UTSW |
11 |
23,823,817 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation