Incidental Mutation 'IGL03081:Papola'
| ID |
417852 |
| 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: 0.902)
|
| Stock # |
IGL03081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105785114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 415
(H415Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000166329]
[ENSMUST00000170002]
[ENSMUST00000168186]
[ENSMUST00000169938]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021535
AA Change: H415Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: H415Q
| 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: H415Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: H415Q
| 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: H415Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: H415Q
| 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: H86Q
|
| SMART Domains |
Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: H86Q
| 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: H103Q
|
| SMART Domains |
Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: H103Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000166498
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170002
AA Change: H415Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: H415Q
| 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 |
probably damaging
Transcript: ENSMUST00000168186
AA Change: H415Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: H415Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000170189
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169524
|
| SMART Domains |
Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
95 |
5e-58 |
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
C |
A |
19: 43,770,841 (GRCm39) |
|
probably benign |
Het |
| Acan |
T |
G |
7: 78,748,291 (GRCm39) |
S1021A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,464 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,086 (GRCm39) |
K1018E |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
T |
C |
10: 98,830,675 (GRCm39) |
|
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,654,995 (GRCm39) |
L20* |
probably null |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,368 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
G |
18: 34,769,757 (GRCm39) |
K454T |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,982 (GRCm39) |
I158F |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 4,999,527 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clec2i |
A |
T |
6: 128,871,728 (GRCm39) |
Y113F |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,821,458 (GRCm39) |
S239T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,905,347 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,084,885 (GRCm39) |
Y359H |
probably benign |
Het |
| Eya1 |
A |
T |
1: 14,253,415 (GRCm39) |
F520L |
possibly damaging |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,817 (GRCm39) |
I217F |
probably damaging |
Het |
| Gm12258 |
A |
G |
11: 58,749,085 (GRCm39) |
N87D |
probably benign |
Het |
| Gp6 |
A |
G |
7: 4,374,647 (GRCm39) |
S225P |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,696,187 (GRCm39) |
Y619C |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,156 (GRCm39) |
I1087T |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,347,421 (GRCm39) |
H3091Q |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,306,150 (GRCm39) |
S88P |
possibly damaging |
Het |
| Mrps23 |
G |
A |
11: 88,101,043 (GRCm39) |
R117Q |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,987,339 (GRCm39) |
S384G |
probably damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,373 (GRCm39) |
I135N |
possibly damaging |
Het |
| Noto |
T |
C |
6: 85,401,091 (GRCm39) |
F40S |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,600,544 (GRCm39) |
V41D |
possibly damaging |
Het |
| Or8b50 |
C |
T |
9: 38,518,166 (GRCm39) |
A135V |
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,728,097 (GRCm39) |
T557I |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,906,274 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,438,851 (GRCm39) |
S226P |
possibly damaging |
Het |
| Rnf17 |
T |
A |
14: 56,671,828 (GRCm39) |
S273R |
probably benign |
Het |
| Scamp2 |
T |
C |
9: 57,494,410 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,546,315 (GRCm39) |
F153L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,667,186 (GRCm39) |
D1735E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,507 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
C |
T |
6: 132,732,497 (GRCm39) |
L269F |
possibly damaging |
Het |
| Tmem260 |
A |
C |
14: 48,733,750 (GRCm39) |
I216L |
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,791,637 (GRCm39) |
A116S |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,102,193 (GRCm39) |
K991R |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,138 (GRCm39) |
Y89C |
probably benign |
Het |
| Vps13b |
A |
C |
15: 35,875,966 (GRCm39) |
I2784L |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,612 (GRCm39) |
K141N |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,552,126 (GRCm39) |
M259K |
probably 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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation