Incidental Mutation 'IGL03279:Ptbp3'
ID |
415521 |
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 # |
IGL03279
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
59471868-59549288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59476937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 440
(H440Q)
|
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: H506Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000030076 Gene: ENSMUSG00000028382 AA Change: H506Q
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 |
possibly damaging
Transcript: ENSMUST00000102883
AA Change: H534Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099947 Gene: ENSMUSG00000028382 AA Change: H534Q
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 |
possibly damaging
Transcript: ENSMUST00000148331
AA Change: H503Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122840 Gene: ENSMUSG00000028382 AA Change: H503Q
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 |
possibly damaging
Transcript: ENSMUST00000172768
AA Change: H503Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134102 Gene: ENSMUSG00000028382 AA Change: H503Q
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 |
possibly damaging
Transcript: ENSMUST00000173699
AA Change: H440Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134290 Gene: ENSMUSG00000028382 AA Change: H440Q
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: H537Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133612 Gene: ENSMUSG00000028382 AA Change: H537Q
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
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 |
IGL03257:Ptbp3
|
APN |
4 |
59,493,370 (GRCm39) |
splice site |
probably benign |
|
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 |