Incidental Mutation 'IGL01616:Psrc1'
| ID |
92398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psrc1
|
| Ensembl Gene |
ENSMUSG00000068744 |
| Gene Name |
proline/serine-rich coiled-coil 1 |
| Synonyms |
5430413I02Rik, DDA3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
IGL01616
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108291155-108295547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108294008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 275
(S275Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090558]
[ENSMUST00000090561]
[ENSMUST00000102629]
[ENSMUST00000128089]
|
| AlphaFold |
Q9D0P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090558
|
| SMART Domains |
Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
CA
|
203 |
287 |
1.36e-26 |
SMART |
|
CA
|
311 |
397 |
1.33e-29 |
SMART |
|
CA
|
421 |
503 |
2.59e-27 |
SMART |
|
CA
|
527 |
608 |
3.33e-30 |
SMART |
|
CA
|
632 |
710 |
5.18e-18 |
SMART |
|
CA
|
734 |
813 |
1.08e-29 |
SMART |
|
CA
|
837 |
919 |
8.08e-29 |
SMART |
|
low complexity region
|
920 |
932 |
N/A |
INTRINSIC |
|
CA
|
943 |
1021 |
4.3e-24 |
SMART |
|
CA
|
1049 |
1125 |
1.87e-1 |
SMART |
|
low complexity region
|
1188 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1231 |
1286 |
1.81e-3 |
SMART |
|
EGF_CA
|
1288 |
1324 |
2.24e-8 |
SMART |
|
EGF
|
1331 |
1366 |
6.65e-2 |
SMART |
|
LamG
|
1387 |
1554 |
8.4e-30 |
SMART |
|
EGF
|
1577 |
1610 |
8e-5 |
SMART |
|
LamG
|
1636 |
1770 |
1.56e-24 |
SMART |
|
EGF
|
1796 |
1829 |
2.35e-2 |
SMART |
|
EGF
|
1831 |
1867 |
3.88e-3 |
SMART |
|
TNFR
|
1908 |
1943 |
1.35e-1 |
SMART |
|
EGF_Lam
|
1924 |
1969 |
9.54e-12 |
SMART |
|
HormR
|
1972 |
2034 |
1.57e-20 |
SMART |
|
Pfam:GAIN
|
2046 |
2289 |
3e-62 |
PFAM |
|
GPS
|
2315 |
2368 |
1.86e-25 |
SMART |
|
Pfam:7tm_2
|
2373 |
2605 |
1.1e-48 |
PFAM |
|
low complexity region
|
2715 |
2733 |
N/A |
INTRINSIC |
|
low complexity region
|
2857 |
2873 |
N/A |
INTRINSIC |
|
low complexity region
|
2874 |
2881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090561
AA Change: S275Y
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: S275Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTSE1_N
|
7 |
124 |
4.8e-24 |
PFAM |
|
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102629
AA Change: S275Y
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: S275Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTSE1_N
|
8 |
108 |
2e-12 |
PFAM |
|
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128089
|
| SMART Domains |
Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTSE1_N
|
22 |
139 |
6.5e-25 |
PFAM |
|
low complexity region
|
146 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148509
|
| SMART Domains |
Protein: ENSMUSP00000120482
Gene: ENSMUSG00000068744
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTSE1_N
|
5 |
106 |
3.9e-18 |
PFAM |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
213 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,684,702 (GRCm39) |
|
probably null |
Het |
| Afg3l1 |
T |
A |
8: 124,228,746 (GRCm39) |
W771R |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,628,586 (GRCm39) |
S348P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,419 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,828,993 (GRCm39) |
I304V |
probably benign |
Het |
| Fcsk |
G |
T |
8: 111,617,108 (GRCm39) |
H388N |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,323,064 (GRCm39) |
T1072A |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,362,276 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,620,288 (GRCm39) |
G8D |
probably damaging |
Het |
| Ivns1abp |
C |
A |
1: 151,237,294 (GRCm39) |
T486K |
possibly damaging |
Het |
| Mat1a |
G |
A |
14: 40,831,436 (GRCm39) |
V55M |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,266,928 (GRCm39) |
F22S |
probably damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,717,287 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,272 (GRCm39) |
L1062P |
probably damaging |
Het |
| Slc22a13b |
A |
C |
9: 119,049,994 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,279,910 (GRCm39) |
M178K |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,829 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Slc9a8 |
C |
T |
2: 167,266,086 (GRCm39) |
T21I |
possibly damaging |
Het |
| Tox |
T |
C |
4: 6,688,430 (GRCm39) |
T526A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,850,828 (GRCm39) |
P1749S |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,061,126 (GRCm39) |
A1363S |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,793,843 (GRCm39) |
H277L |
probably damaging |
Het |
|
| Other mutations in Psrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1481:Psrc1
|
UTSW |
3 |
108,292,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1637:Psrc1
|
UTSW |
3 |
108,292,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Psrc1
|
UTSW |
3 |
108,292,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Psrc1
|
UTSW |
3 |
108,287,839 (GRCm39) |
unclassified |
probably benign |
|
|
R5275:Psrc1
|
UTSW |
3 |
108,293,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5295:Psrc1
|
UTSW |
3 |
108,293,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6810:Psrc1
|
UTSW |
3 |
108,292,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7545:Psrc1
|
UTSW |
3 |
108,293,759 (GRCm39) |
splice site |
probably null |
|
|
R7909:Psrc1
|
UTSW |
3 |
108,292,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Psrc1
|
UTSW |
3 |
108,293,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Psrc1
|
UTSW |
3 |
108,293,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8927:Psrc1
|
UTSW |
3 |
108,293,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8928:Psrc1
|
UTSW |
3 |
108,293,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1192:Psrc1
|
UTSW |
3 |
108,293,873 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation