Incidental Mutation 'R0592:Strip2'
ID |
56022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strip2
|
Ensembl Gene |
ENSMUSG00000039629 |
Gene Name |
striatin interacting protein 2 |
Synonyms |
Myoscape, D330017J20Rik, Fam40b |
MMRRC Submission |
038782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R0592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29931209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 387
(S387T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000115224]
[ENSMUST00000151738]
|
AlphaFold |
Q8C9H6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046028
AA Change: S387T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000036477 Gene: ENSMUSG00000039629 AA Change: S387T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
822 |
4.98e-199 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115224
AA Change: S387T
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110879 Gene: ENSMUSG00000039629 AA Change: S387T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
662 |
4.85e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137068
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151738
AA Change: S387T
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119506 Gene: ENSMUSG00000039629 AA Change: S387T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
N1221
|
57 |
364 |
1.68e-132 |
SMART |
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
DUF3402
|
466 |
794 |
1.72e-161 |
SMART |
|
Meta Mutation Damage Score |
0.0810 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
Other mutations in Strip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00472:Strip2
|
APN |
6 |
29,931,213 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01357:Strip2
|
APN |
6 |
29,939,166 (GRCm39) |
splice site |
probably benign |
|
IGL01636:Strip2
|
APN |
6 |
29,931,192 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01959:Strip2
|
APN |
6 |
29,928,553 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01961:Strip2
|
APN |
6 |
29,928,426 (GRCm39) |
splice site |
probably benign |
|
IGL02089:Strip2
|
APN |
6 |
29,917,179 (GRCm39) |
unclassified |
probably benign |
|
1mM(1):Strip2
|
UTSW |
6 |
29,955,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0079:Strip2
|
UTSW |
6 |
29,920,532 (GRCm39) |
critical splice donor site |
probably null |
|
R0331:Strip2
|
UTSW |
6 |
29,926,559 (GRCm39) |
missense |
probably benign |
0.44 |
R0367:Strip2
|
UTSW |
6 |
29,937,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1087:Strip2
|
UTSW |
6 |
29,927,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R1390:Strip2
|
UTSW |
6 |
29,929,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Strip2
|
UTSW |
6 |
29,941,940 (GRCm39) |
critical splice donor site |
probably null |
|
R2213:Strip2
|
UTSW |
6 |
29,931,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2437:Strip2
|
UTSW |
6 |
29,941,940 (GRCm39) |
critical splice donor site |
probably null |
|
R2900:Strip2
|
UTSW |
6 |
29,939,034 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3892:Strip2
|
UTSW |
6 |
29,917,074 (GRCm39) |
unclassified |
probably benign |
|
R4010:Strip2
|
UTSW |
6 |
29,955,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4435:Strip2
|
UTSW |
6 |
29,925,049 (GRCm39) |
missense |
probably benign |
0.06 |
R4807:Strip2
|
UTSW |
6 |
29,925,092 (GRCm39) |
nonsense |
probably null |
|
R5015:Strip2
|
UTSW |
6 |
29,931,265 (GRCm39) |
missense |
probably benign |
0.03 |
R5080:Strip2
|
UTSW |
6 |
29,945,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R5484:Strip2
|
UTSW |
6 |
29,917,154 (GRCm39) |
unclassified |
probably benign |
|
R5502:Strip2
|
UTSW |
6 |
29,927,623 (GRCm39) |
missense |
probably benign |
0.23 |
R5899:Strip2
|
UTSW |
6 |
29,956,957 (GRCm39) |
utr 3 prime |
probably benign |
|
R6004:Strip2
|
UTSW |
6 |
29,926,570 (GRCm39) |
missense |
probably damaging |
0.98 |
R6479:Strip2
|
UTSW |
6 |
29,944,496 (GRCm39) |
splice site |
probably null |
|
R6835:Strip2
|
UTSW |
6 |
29,941,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R7068:Strip2
|
UTSW |
6 |
29,932,207 (GRCm39) |
missense |
probably benign |
0.03 |
R7073:Strip2
|
UTSW |
6 |
29,941,911 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7088:Strip2
|
UTSW |
6 |
29,920,532 (GRCm39) |
critical splice donor site |
probably null |
|
R7231:Strip2
|
UTSW |
6 |
29,944,486 (GRCm39) |
missense |
probably damaging |
0.96 |
R7399:Strip2
|
UTSW |
6 |
29,927,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7813:Strip2
|
UTSW |
6 |
29,923,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7827:Strip2
|
UTSW |
6 |
29,923,928 (GRCm39) |
missense |
probably benign |
0.18 |
R8354:Strip2
|
UTSW |
6 |
29,920,531 (GRCm39) |
critical splice donor site |
probably null |
|
R8723:Strip2
|
UTSW |
6 |
29,941,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Strip2
|
UTSW |
6 |
29,931,815 (GRCm39) |
missense |
probably damaging |
0.96 |
R8793:Strip2
|
UTSW |
6 |
29,956,815 (GRCm39) |
missense |
probably benign |
0.27 |
R8843:Strip2
|
UTSW |
6 |
29,923,968 (GRCm39) |
missense |
probably benign |
0.44 |
R9175:Strip2
|
UTSW |
6 |
29,933,035 (GRCm39) |
missense |
probably benign |
0.01 |
R9336:Strip2
|
UTSW |
6 |
29,931,824 (GRCm39) |
missense |
probably benign |
0.03 |
R9381:Strip2
|
UTSW |
6 |
29,927,333 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTTTCCCAGGAGCTACTCCTACG -3'
(R):5'- TAGGCCAGGGGTTGATTACCACAC -3'
Sequencing Primer
(F):5'- GGAGCTACTCCTACGATTGAGTC -3'
(R):5'- GGTTGATTACCACACCAGGTTAATG -3'
|
Posted On |
2013-07-11 |