Incidental Mutation 'IGL03035:Ptbp3'
| ID |
408611 |
| 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: 0.322)
|
| Stock # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59477218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 393
(M393K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030076]
[ENSMUST00000102883]
[ENSMUST00000148331]
[ENSMUST00000172471]
[ENSMUST00000172768]
[ENSMUST00000173699]
[ENSMUST00000174586]
[ENSMUST00000174748]
|
| AlphaFold |
Q8BHD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030076
AA Change: M459K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: M459K
| 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
AA Change: M487K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: M487K
| 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: ENSMUST00000148331
AA Change: M456K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: M456K
| 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
AA Change: M456K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: M456K
| 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 |
noncoding transcript
Transcript: ENSMUST00000173268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173699
AA Change: M393K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: M393K
| 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
AA Change: M490K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: M490K
| 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: 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
| Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
| Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly 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 |
|
IGL03118:Ptbp3
|
APN |
4 |
59,501,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03257:Ptbp3
|
APN |
4 |
59,493,370 (GRCm39) |
splice site |
probably benign |
|
|
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