Incidental Mutation 'R5899:Strip2'
| ID |
506160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip2
|
| Ensembl Gene |
ENSMUSG00000039629 |
| Gene Name |
striatin interacting protein 2 |
| Synonyms |
Myoscape, D330017J20Rik, Fam40b |
| MMRRC Submission |
044098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5899 (G1)
|
| Quality Score |
36 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 29956957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000151738]
|
| AlphaFold |
Q8C9H6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046028
|
| SMART Domains |
Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
| 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 |
noncoding transcript
Transcript: ENSMUST00000122395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151738
|
| SMART Domains |
Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
93% (56/60) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
| Anks1b |
T |
A |
10: 90,759,379 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
| B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
| Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
| Cflar |
A |
G |
1: 58,791,927 (GRCm39) |
D410G |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
| Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
| E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
| Fbxw15 |
T |
C |
9: 109,384,741 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
| Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
| Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
| Map3k11 |
T |
G |
19: 5,745,937 (GRCm39) |
|
probably null |
Het |
| Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
| Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
| Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
| Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,509 (GRCm39) |
E549G |
possibly damaging |
Het |
| Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
| Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
| Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
| Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
| Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
| Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
| Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
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 |
|
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 |
|
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 |
|
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'- ACAGCCGCCGATATGATAAG -3'
(R):5'- CATTTGCTTTGACTCAGGACCC -3'
Sequencing Primer
(F):5'- AGGACTCAGAATTCTCACCTGTGG -3'
(R):5'- TTGACTCAGGACCCCAGTC -3'
|
| Posted On |
2018-03-01 |
Incidental Mutation