Incidental Mutation 'R3892:Strip2'
| ID |
309977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip2
|
| Ensembl Gene |
ENSMUSG00000039629 |
| Gene Name |
striatin interacting protein 2 |
| Synonyms |
Myoscape, D330017J20Rik, Fam40b |
| MMRRC Submission |
040804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3892 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 29917074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000102995]
[ENSMUST00000115224]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000151738]
|
| AlphaFold |
Q8C9H6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046028
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
AA Change: M1L
| 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: ENSMUST00000102995
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
172 |
N/A |
INTRINSIC |
|
AdoHcyase
|
186 |
611 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
371 |
532 |
2.21e-103 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115224
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629
AA Change: M1L
| 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 |
probably benign
Transcript: ENSMUST00000115238
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
|
AdoHcyase
|
82 |
507 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
267 |
428 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115242
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
173 |
N/A |
INTRINSIC |
|
AdoHcyase
|
187 |
612 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
372 |
533 |
2.21e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137068
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151738
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
AA Change: M1L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201689
|
| Meta Mutation Damage Score |
0.3595 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,738,730 (GRCm39) |
D43G |
probably benign |
Het |
| Bckdhb |
A |
C |
9: 83,870,863 (GRCm39) |
E124D |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,128,778 (GRCm39) |
T873A |
probably benign |
Het |
| Cbs |
C |
A |
17: 31,835,048 (GRCm39) |
C476F |
probably benign |
Het |
| Cckbr |
A |
C |
7: 105,075,376 (GRCm39) |
T49P |
probably benign |
Het |
| Cd248 |
C |
T |
19: 5,119,534 (GRCm39) |
P461S |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,342,959 (GRCm39) |
Y19C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,750,232 (GRCm39) |
C7* |
probably null |
Het |
| Ctnnb1 |
T |
G |
9: 120,779,580 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,511,009 (GRCm39) |
Y257H |
probably damaging |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,573 (GRCm39) |
M491V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,737,013 (GRCm39) |
I590S |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,504,198 (GRCm39) |
|
probably benign |
Het |
| Fam209 |
A |
G |
2: 172,314,618 (GRCm39) |
K36E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,186,833 (GRCm39) |
Q95L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Ggcx |
G |
A |
6: 72,395,355 (GRCm39) |
V149M |
probably damaging |
Het |
| Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
| H2-M10.1 |
T |
A |
17: 36,635,281 (GRCm39) |
Q250L |
possibly damaging |
Het |
| Hecw2 |
A |
T |
1: 53,965,280 (GRCm39) |
N515K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Klf5 |
T |
A |
14: 99,536,509 (GRCm39) |
F27I |
probably benign |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Lrrc14b |
T |
C |
13: 74,511,787 (GRCm39) |
S98G |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,333 (GRCm39) |
V1136A |
probably benign |
Het |
| Map3k11 |
G |
T |
19: 5,752,311 (GRCm39) |
C831F |
probably benign |
Het |
| Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,046,444 (GRCm39) |
L322P |
probably damaging |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Myd88 |
T |
C |
9: 119,166,882 (GRCm39) |
D225G |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or4f15 |
A |
C |
2: 111,813,486 (GRCm39) |
M311R |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,695,011 (GRCm39) |
I194S |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,192,589 (GRCm39) |
D791Y |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,484,305 (GRCm39) |
I320M |
probably damaging |
Het |
| Psg23 |
G |
T |
7: 18,345,966 (GRCm39) |
T243N |
probably damaging |
Het |
| Ptma-ps1 |
A |
G |
7: 23,763,543 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprk |
A |
T |
10: 28,139,617 (GRCm39) |
Q114L |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rabgef1 |
A |
G |
5: 130,237,520 (GRCm39) |
|
probably benign |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,804 (GRCm39) |
H382Q |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sacs |
T |
G |
14: 61,441,836 (GRCm39) |
I1294R |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,401,365 (GRCm39) |
S204N |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,809,376 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
G |
A |
2: 13,677,335 (GRCm39) |
H161Y |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,193,827 (GRCm39) |
V617A |
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,547,096 (GRCm39) |
S221T |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,494 (GRCm39) |
L436Q |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,769,237 (GRCm39) |
E2076G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,578,477 (GRCm39) |
V879I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
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 |
|
|
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'- CTGATTAGCCAATCGCATCTCG -3'
(R):5'- TTCGCGCCGGTTAGGAAAAC -3'
Sequencing Primer
(F):5'- AATCGCATCTCGGGGCG -3'
(R):5'- CGCTGGCGGATACCTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation