Incidental Mutation 'R7147:Papola'
| ID |
553898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| MMRRC Submission |
045224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R7147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 105774897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166329]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000169938]
[ENSMUST00000170002]
[ENSMUST00000170540]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
silent
Transcript: ENSMUST00000021535
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
| 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 |
silent
Transcript: ENSMUST00000109901
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
| 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 |
silent
Transcript: ENSMUST00000163473
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
| 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 |
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 |
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 |
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 |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000166735
|
| SMART Domains |
Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
| 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 |
silent
Transcript: ENSMUST00000168186
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
| 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 |
silent
Transcript: ENSMUST00000169524
|
| SMART Domains |
Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
95 |
5e-58 |
PFAM |
|
| 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 |
silent
Transcript: ENSMUST00000170002
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
| 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 benign
Transcript: ENSMUST00000170540
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
T |
14: 56,017,182 (GRCm39) |
G303D |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,118,587 (GRCm39) |
G987D |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,748,905 (GRCm39) |
S1161P |
|
Het |
| Ampd3 |
G |
A |
7: 110,404,059 (GRCm39) |
E528K |
probably damaging |
Het |
| Arl8b |
G |
A |
6: 108,791,976 (GRCm39) |
R79Q |
probably damaging |
Het |
| Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,231 (GRCm39) |
Q105L |
|
Het |
| Casd1 |
T |
C |
6: 4,624,187 (GRCm39) |
Y327H |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,743,629 (GRCm39) |
C239S |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,066,546 (GRCm39) |
H781L |
probably benign |
Het |
| Dlg1 |
A |
T |
16: 31,610,672 (GRCm39) |
M318L |
probably benign |
Het |
| Dlgap1 |
T |
C |
17: 70,969,753 (GRCm39) |
S520P |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,324,013 (GRCm39) |
I950V |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,985,755 (GRCm39) |
T1441S |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,849,654 (GRCm39) |
N1638K |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,204,239 (GRCm39) |
D23E |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,829,384 (GRCm39) |
T55S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,618,391 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
T |
A |
4: 25,213,777 (GRCm39) |
|
probably null |
Het |
| Gm5145 |
G |
A |
17: 20,791,323 (GRCm39) |
E234K |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,800,238 (GRCm39) |
D330N |
possibly damaging |
Het |
| Greb1 |
C |
T |
12: 16,783,428 (GRCm39) |
R102H |
probably damaging |
Het |
| H4c17 |
A |
G |
13: 21,996,159 (GRCm39) |
D69G |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,321,676 (GRCm39) |
K361R |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,629,400 (GRCm39) |
D245G |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,891,267 (GRCm39) |
V416A |
possibly damaging |
Het |
| Kif21a |
A |
G |
15: 90,865,086 (GRCm39) |
S529P |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,686,195 (GRCm39) |
M609T |
probably benign |
Het |
| Lrrc75a |
G |
A |
11: 62,496,795 (GRCm39) |
P256S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,626,580 (GRCm39) |
R339G |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,065,495 (GRCm39) |
W371* |
probably null |
Het |
| Mei4 |
T |
A |
9: 81,809,649 (GRCm39) |
L244Q |
probably damaging |
Het |
| Mical2 |
C |
T |
7: 111,922,810 (GRCm39) |
P605L |
possibly damaging |
Het |
| Mrgprf |
G |
T |
7: 144,862,128 (GRCm39) |
R230L |
possibly damaging |
Het |
| Nlgn1 |
T |
A |
3: 26,187,509 (GRCm39) |
R125S |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,273 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,823,095 (GRCm39) |
D360G |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,683,274 (GRCm39) |
R1797G |
unknown |
Het |
| Psmg2 |
C |
T |
18: 67,786,338 (GRCm39) |
P233S |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,553,781 (GRCm39) |
W857R |
probably damaging |
Het |
| Raet1e |
A |
T |
10: 22,057,179 (GRCm39) |
M168L |
probably benign |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,908 (GRCm39) |
Y61F |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,398,016 (GRCm39) |
N236S |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,046,268 (GRCm39) |
S310T |
probably benign |
Het |
| Sdr42e2 |
A |
T |
7: 120,412,238 (GRCm39) |
R33S |
probably damaging |
Het |
| Sh3d19 |
T |
A |
3: 86,011,584 (GRCm39) |
I390N |
possibly damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,154,042 (GRCm39) |
Y177H |
probably damaging |
Het |
| Smo |
G |
A |
6: 29,758,448 (GRCm39) |
G531D |
possibly damaging |
Het |
| Snx25 |
A |
C |
8: 46,558,233 (GRCm39) |
V258G |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,028 (GRCm39) |
S1059T |
probably benign |
Het |
| Srgap2 |
C |
T |
1: 131,238,332 (GRCm39) |
C274Y |
|
Het |
| Srrm1 |
A |
G |
4: 135,074,137 (GRCm39) |
I48T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,199,340 (GRCm39) |
V3719E |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,128 (GRCm39) |
M616K |
probably benign |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,610 (GRCm39) |
V234D |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,895 (GRCm39) |
N293S |
probably damaging |
Het |
| Trim13 |
A |
T |
14: 61,842,080 (GRCm39) |
K32N |
probably damaging |
Het |
| Trim6 |
G |
A |
7: 103,874,777 (GRCm39) |
V5I |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,266,379 (GRCm39) |
L436* |
probably null |
Het |
| Vps50 |
C |
T |
6: 3,567,750 (GRCm39) |
Q549* |
probably null |
Het |
| Vtcn1 |
T |
A |
3: 100,791,210 (GRCm39) |
F83I |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
probably benign |
Het |
| Zfp758 |
A |
T |
17: 22,594,981 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,531 (GRCm39) |
Y787H |
probably benign |
Het |
| Zfp9 |
C |
T |
6: 118,441,963 (GRCm39) |
C233Y |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGCAAGGTCAATGAG -3'
(R):5'- AGTGAGCAAATCAACTGCCAG -3'
Sequencing Primer
(F):5'- CATTGCAAGGTCAATGAGAGGGC -3'
(R):5'- CTCTGTAGTCTATCCAGGGTAAAGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation