Incidental Mutation 'R1390:Strip2'
| ID |
162574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip2
|
| Ensembl Gene |
ENSMUSG00000039629 |
| Gene Name |
striatin interacting protein 2 |
| Synonyms |
Myoscape, D330017J20Rik, Fam40b |
| MMRRC Submission |
039452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1390 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29929828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 305
(R305L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000115224]
[ENSMUST00000151738]
|
| AlphaFold |
Q8C9H6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046028
AA Change: R305L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
AA Change: R305L
| 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 damaging
Transcript: ENSMUST00000115224
AA Change: R305L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629
AA Change: R305L
| 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 damaging
Transcript: ENSMUST00000151738
AA Change: R305L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
AA Change: R305L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
T |
A |
13: 68,805,512 (GRCm39) |
I819F |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,859 (GRCm39) |
I712T |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,326,917 (GRCm39) |
V402A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,921,567 (GRCm39) |
Y488C |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,239,461 (GRCm39) |
I288K |
probably benign |
Het |
| Mcmbp |
A |
C |
7: 128,325,865 (GRCm39) |
M71R |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,650,831 (GRCm39) |
L456R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,984,274 (GRCm39) |
D1752G |
probably damaging |
Het |
| Or4f47 |
A |
G |
2: 111,972,952 (GRCm39) |
I221V |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,285,407 (GRCm39) |
D647V |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,006,462 (GRCm39) |
G2060W |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,512,881 (GRCm39) |
S884P |
unknown |
Het |
| Slit2 |
G |
A |
5: 48,374,832 (GRCm39) |
S370N |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,682,440 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,132,610 (GRCm39) |
R226G |
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,402,323 (GRCm39) |
V186G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,867 (GRCm39) |
D485G |
possibly damaging |
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 |
|
R0592:Strip2
|
UTSW |
6 |
29,931,209 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1087:Strip2
|
UTSW |
6 |
29,927,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GTGCTTCCCTTCCAGCACATAAGAG -3'
(R):5'- TGGTCCATACCCTTCGAGAACCAC -3'
Sequencing Primer
(F):5'- cactttcccttttcccttcac -3'
(R):5'- GAGAACCACGGCGTCCC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation