Incidental Mutation 'R1087:Strip2'
| ID |
85065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip2
|
| Ensembl Gene |
ENSMUSG00000039629 |
| Gene Name |
striatin interacting protein 2 |
| Synonyms |
Myoscape, D330017J20Rik, Fam40b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1087 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29917011-29959680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29927633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 226
(E226G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046028]
[ENSMUST00000115224]
[ENSMUST00000151738]
|
| AlphaFold |
Q8C9H6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046028
AA Change: E226G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
AA Change: E226G
| 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: E226G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629
AA Change: E226G
| 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 |
possibly damaging
Transcript: ENSMUST00000151738
AA Change: E226G
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
AA Change: E226G
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
| Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
| Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,117,881 (GRCm39) |
Y130H |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,179,413 (GRCm39) |
M417I |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
| Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,639 (GRCm39) |
T213A |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,645,848 (GRCm39) |
Y130C |
probably damaging |
Het |
| Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
| Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
| Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
| Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,534,727 (GRCm39) |
V266A |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
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 |
|
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'- AGTGGGACGTTACCTTCTAGCCAG -3'
(R):5'- AGGGGTGCAATCAAACTCAGCC -3'
Sequencing Primer
(F):5'- GACGTTACCTTCTAGCCAGTCTTC -3'
(R):5'- acaaacaaacaaacaaacaaaacaac -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation