Incidental Mutation 'IGL03257:Ptbp3'
| ID |
414715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptbp3
|
| Ensembl Gene |
ENSMUSG00000028382 |
| Gene Name |
polypyrimidine tract binding protein 3 |
| Synonyms |
Rod1, 5830471K22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
IGL03257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 59493370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000134879]
[ENSMUST00000148331]
[ENSMUST00000172471]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000174586]
[ENSMUST00000173884]
[ENSMUST00000174748]
|
| AlphaFold |
Q8BHD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030076
|
| SMART Domains |
Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
31 |
100 |
2.24e-3 |
SMART |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
RRM
|
154 |
223 |
2.51e-6 |
SMART |
|
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
|
RRM
|
330 |
399 |
2.13e-9 |
SMART |
|
RRM
|
447 |
517 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102883
|
| SMART Domains |
Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
59 |
128 |
2.24e-3 |
SMART |
|
low complexity region
|
143 |
158 |
N/A |
INTRINSIC |
|
RRM
|
182 |
251 |
2.51e-6 |
SMART |
|
low complexity region
|
305 |
321 |
N/A |
INTRINSIC |
|
RRM
|
358 |
427 |
2.13e-9 |
SMART |
|
RRM
|
475 |
545 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148331
|
| SMART Domains |
Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
97 |
2.24e-3 |
SMART |
|
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
|
RRM
|
151 |
220 |
2.51e-6 |
SMART |
|
low complexity region
|
274 |
290 |
N/A |
INTRINSIC |
|
RRM
|
327 |
396 |
2.13e-9 |
SMART |
|
RRM
|
444 |
514 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172471
|
| SMART Domains |
Protein: ENSMUSP00000133886
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1SJR|A
|
1 |
34 |
2e-11 |
PDB |
|
Blast:RRM_2
|
1 |
37 |
6e-9 |
BLAST |
|
low complexity region
|
44 |
64 |
N/A |
INTRINSIC |
|
RRM
|
92 |
161 |
2.13e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172768
|
| SMART Domains |
Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
28 |
97 |
2.24e-3 |
SMART |
|
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
|
RRM
|
151 |
220 |
2.51e-6 |
SMART |
|
low complexity region
|
274 |
290 |
N/A |
INTRINSIC |
|
RRM
|
327 |
396 |
2.13e-9 |
SMART |
|
RRM
|
444 |
514 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173699
|
| SMART Domains |
Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CQ1|A
|
2 |
44 |
7e-18 |
PDB |
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
RRM
|
88 |
157 |
2.51e-6 |
SMART |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
RRM
|
264 |
333 |
2.13e-9 |
SMART |
|
RRM
|
381 |
451 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174586
|
| SMART Domains |
Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
62 |
131 |
2.24e-3 |
SMART |
|
low complexity region
|
146 |
161 |
N/A |
INTRINSIC |
|
RRM
|
185 |
254 |
2.51e-6 |
SMART |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
RRM
|
361 |
430 |
2.13e-9 |
SMART |
|
RRM
|
478 |
548 |
1.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173884
|
| SMART Domains |
Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
28 |
N/A |
INTRINSIC |
|
RRM
|
52 |
121 |
2.51e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174748
|
| 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 binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
| Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
| Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
| Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
| Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
probably damaging |
Het |
|
| Other mutations in Ptbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00932:Ptbp3
|
APN |
4 |
59,477,228 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03035:Ptbp3
|
APN |
4 |
59,477,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Ptbp3
|
APN |
4 |
59,501,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03279:Ptbp3
|
APN |
4 |
59,476,937 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0557:Ptbp3
|
UTSW |
4 |
59,517,684 (GRCm39) |
nonsense |
probably null |
|
|
R1741:Ptbp3
|
UTSW |
4 |
59,482,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Ptbp3
|
UTSW |
4 |
59,517,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Ptbp3
|
UTSW |
4 |
59,517,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Ptbp3
|
UTSW |
4 |
59,494,615 (GRCm39) |
splice site |
probably benign |
|
|
R3798:Ptbp3
|
UTSW |
4 |
59,546,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4793:Ptbp3
|
UTSW |
4 |
59,514,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4869:Ptbp3
|
UTSW |
4 |
59,524,443 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5573:Ptbp3
|
UTSW |
4 |
59,485,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Ptbp3
|
UTSW |
4 |
59,493,311 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6350:Ptbp3
|
UTSW |
4 |
59,482,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6659:Ptbp3
|
UTSW |
4 |
59,517,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Ptbp3
|
UTSW |
4 |
59,514,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7523:Ptbp3
|
UTSW |
4 |
59,546,159 (GRCm39) |
missense |
probably benign |
|
|
R7566:Ptbp3
|
UTSW |
4 |
59,514,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8807:Ptbp3
|
UTSW |
4 |
59,517,584 (GRCm39) |
missense |
probably benign |
|
|
YA93:Ptbp3
|
UTSW |
4 |
59,524,413 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation