Incidental Mutation 'IGL03401:Papola'
| ID |
421430 |
| 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 # |
IGL03401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105795381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 611
(T611S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000166329]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021535
AA Change: T611S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: T611S
| 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 benign
Transcript: ENSMUST00000109901
AA Change: T611S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: T611S
| 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 benign
Transcript: ENSMUST00000163473
AA Change: T611S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: T611S
| 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 |
unknown
Transcript: ENSMUST00000164798
AA Change: T281S
|
| SMART Domains |
Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: T281S
| 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 |
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 |
unknown
Transcript: ENSMUST00000166471
AA Change: T299S
|
| SMART Domains |
Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: T299S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168186
AA Change: T611S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: T611S
| 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 benign
Transcript: ENSMUST00000170002
AA Change: T611S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: T611S
| 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 |
unknown
Transcript: ENSMUST00000172089
AA Change: T19S
|
| SMART Domains |
Protein: ENSMUSP00000131729
Gene: ENSMUSG00000021111
AA Change: T19S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
| Actn1 |
A |
T |
12: 80,215,741 (GRCm39) |
L799* |
probably null |
Het |
| Adam12 |
A |
T |
7: 133,518,192 (GRCm39) |
N327K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
| Agbl4 |
G |
T |
4: 110,976,216 (GRCm39) |
R191L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
| AW209491 |
A |
G |
13: 14,812,041 (GRCm39) |
D298G |
probably benign |
Het |
| Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
| Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
| Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
| Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
| Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
| Trmt9b |
A |
C |
8: 36,972,823 (GRCm39) |
D91A |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
probably benign |
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 |
|
IGL02511:Papola
|
APN |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation