Incidental Mutation 'IGL02511:Papola'
| ID |
296540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
IGL02511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105775604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 204
(C204S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
[ENSMUST00000170540]
[ENSMUST00000166329]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021535
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.5e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
2.4e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
8.9e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109901
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:PAP_central
|
21 |
364 |
4.1e-120 |
PFAM |
|
Pfam:NTP_transf_2
|
82 |
175 |
8.1e-16 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
435 |
4.1e-21 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163473
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
9.2e-112 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.3e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.6e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164326
|
| SMART Domains |
Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164798
|
| SMART Domains |
Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
36 |
5.3e-8 |
PFAM |
|
Pfam:PAP_RNA-bind
|
38 |
106 |
8.5e-22 |
PFAM |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165584
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166735
AA Change: C204S
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
283 |
9.4e-73 |
PFAM |
|
Pfam:NTP_transf_2
|
72 |
175 |
5.7e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168186
AA Change: C204S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.6e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
5e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170002
AA Change: C204S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: C204S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.5e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.8e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000169938
|
| SMART Domains |
Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
157 |
4.5e-17 |
PFAM |
|
Pfam:NTP_transf_2
|
74 |
166 |
2.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166329
|
| SMART Domains |
Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111
AA Change: C19S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
95 |
5e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166471
|
| SMART Domains |
Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
53 |
9.5e-21 |
PFAM |
|
Pfam:PAP_RNA-bind
|
55 |
123 |
1.3e-21 |
PFAM |
|
low complexity region
|
207 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9190 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,692,111 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,185,192 (GRCm39) |
D502V |
probably damaging |
Het |
| Adss2 |
T |
C |
1: 177,598,700 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
T |
A |
11: 5,610,845 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,873,615 (GRCm39) |
S692P |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,684,498 (GRCm39) |
M1T |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn1 |
A |
T |
15: 92,114,266 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,835,757 (GRCm39) |
F218Y |
probably benign |
Het |
| Dll4 |
G |
A |
2: 119,156,947 (GRCm39) |
G73E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,757,343 (GRCm39) |
M897V |
possibly damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,039,653 (GRCm39) |
R816G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,208,894 (GRCm39) |
L83P |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,115,059 (GRCm39) |
S238P |
probably damaging |
Het |
| Fermt1 |
A |
C |
2: 132,775,086 (GRCm39) |
|
probably benign |
Het |
| Gm6619 |
T |
A |
6: 131,467,330 (GRCm39) |
I65K |
possibly damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,518 (GRCm39) |
C117S |
possibly damaging |
Het |
| Ksr1 |
T |
C |
11: 78,936,046 (GRCm39) |
D106G |
possibly damaging |
Het |
| Lgr4 |
A |
T |
2: 109,841,617 (GRCm39) |
Y534F |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,356,095 (GRCm39) |
T118A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,723,975 (GRCm39) |
I170N |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,115,743 (GRCm39) |
S53P |
probably benign |
Het |
| Npl |
T |
A |
1: 153,391,227 (GRCm39) |
D176V |
probably damaging |
Het |
| Nrm |
T |
C |
17: 36,172,316 (GRCm39) |
S14P |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,995,265 (GRCm39) |
F313I |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,840,870 (GRCm39) |
M1V |
probably null |
Het |
| Pard3 |
A |
T |
8: 127,888,070 (GRCm39) |
|
probably benign |
Het |
| Pdzd4 |
T |
A |
X: 72,838,206 (GRCm39) |
M701L |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,143,731 (GRCm39) |
V3865E |
possibly damaging |
Het |
| Plxna3 |
C |
A |
X: 73,378,991 (GRCm39) |
Q712K |
probably damaging |
Het |
| Pon1 |
A |
G |
6: 5,193,724 (GRCm39) |
L9P |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,435,718 (GRCm39) |
I83F |
probably benign |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,226 (GRCm39) |
W212* |
probably null |
Het |
| Slc38a9 |
C |
A |
13: 112,834,541 (GRCm39) |
D239E |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,860,859 (GRCm39) |
F479L |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,297,251 (GRCm39) |
S48P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,768,034 (GRCm39) |
M3022L |
unknown |
Het |
| Tulp1 |
C |
A |
17: 28,575,142 (GRCm39) |
R441L |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,585 (GRCm39) |
F128L |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,420 (GRCm39) |
V686A |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,475,884 (GRCm39) |
|
probably null |
Het |
| Ushbp1 |
T |
C |
8: 71,843,581 (GRCm39) |
M286V |
probably null |
Het |
| Usp51 |
T |
G |
X: 151,791,726 (GRCm39) |
I440R |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 109,738,483 (GRCm39) |
R532L |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,243 (GRCm39) |
E1467G |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,150,602 (GRCm39) |
V269A |
possibly damaging |
Het |
|
| Other mutations in Papola |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Papola
|
APN |
12 |
105,775,856 (GRCm39) |
nonsense |
probably null |
|
|
IGL02197:Papola
|
APN |
12 |
105,795,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02608:Papola
|
APN |
12 |
105,775,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Papola
|
APN |
12 |
105,785,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Papola
|
APN |
12 |
105,775,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03401:Papola
|
APN |
12 |
105,795,381 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0325:Papola
|
UTSW |
12 |
105,773,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Papola
|
UTSW |
12 |
105,785,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1553:Papola
|
UTSW |
12 |
105,786,669 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1746:Papola
|
UTSW |
12 |
105,773,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1954:Papola
|
UTSW |
12 |
105,794,532 (GRCm39) |
splice site |
probably null |
|
|
R2424:Papola
|
UTSW |
12 |
105,793,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4133:Papola
|
UTSW |
12 |
105,765,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4156:Papola
|
UTSW |
12 |
105,767,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4718:Papola
|
UTSW |
12 |
105,786,707 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4814:Papola
|
UTSW |
12 |
105,765,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5237:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5372:Papola
|
UTSW |
12 |
105,793,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5420:Papola
|
UTSW |
12 |
105,772,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5430:Papola
|
UTSW |
12 |
105,775,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Papola
|
UTSW |
12 |
105,789,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5944:Papola
|
UTSW |
12 |
105,778,644 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5956:Papola
|
UTSW |
12 |
105,777,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6193:Papola
|
UTSW |
12 |
105,786,605 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6413:Papola
|
UTSW |
12 |
105,772,763 (GRCm39) |
start gained |
probably benign |
|
|
R6490:Papola
|
UTSW |
12 |
105,771,196 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6649:Papola
|
UTSW |
12 |
105,778,566 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6891:Papola
|
UTSW |
12 |
105,775,950 (GRCm39) |
unclassified |
probably benign |
|
|
R7147:Papola
|
UTSW |
12 |
105,774,897 (GRCm39) |
start gained |
probably benign |
|
|
R7177:Papola
|
UTSW |
12 |
105,775,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7178:Papola
|
UTSW |
12 |
105,773,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Papola
|
UTSW |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7583:Papola
|
UTSW |
12 |
105,777,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Papola
|
UTSW |
12 |
105,775,836 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8945:Papola
|
UTSW |
12 |
105,775,946 (GRCm39) |
unclassified |
probably benign |
|
|
R9177:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9249:Papola
|
UTSW |
12 |
105,799,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation