Incidental Mutation 'R5295:Psrc1'
| ID |
405346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psrc1
|
| Ensembl Gene |
ENSMUSG00000068744 |
| Gene Name |
proline/serine-rich coiled-coil 1 |
| Synonyms |
5430413I02Rik, DDA3 |
| MMRRC Submission |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R5295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108291155-108295547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108293675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 195
(I195V)
|
| 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 |
probably benign
Transcript: ENSMUST00000090561
AA Change: I195V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: I195V
| 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 |
probably benign
Transcript: ENSMUST00000102629
AA Change: I195V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: I195V
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133405
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142833
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
Het |
|
| Other mutations in Psrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01616:Psrc1
|
APN |
3 |
108,294,008 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTAGACAACGCCCTACC -3'
(R):5'- TGGAAGACTTGACAGCTGCTC -3'
Sequencing Primer
(F):5'- TTCTAGACAACGCCCTACCTACTATC -3'
(R):5'- ATGAACATTGGGAGTTGCTAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation