Incidental Mutation 'R9029:Ssh2'
| ID |
686948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
068858-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R9029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77328454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 340
(V340A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037912
AA Change: V334A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: V334A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
251 |
302 |
3.1e-13 |
PFAM |
|
DSPc
|
307 |
445 |
2.2e-41 |
SMART |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181283
AA Change: V340A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: V340A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEK_C
|
256 |
309 |
1.7e-18 |
PFAM |
|
DSPc
|
313 |
451 |
2.2e-41 |
SMART |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1391 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,591,460 (GRCm39) |
K582M |
probably benign |
Het |
| Catsper3 |
T |
G |
13: 55,954,147 (GRCm39) |
V305G |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,535,292 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Cramp1 |
C |
G |
17: 25,232,884 (GRCm39) |
A39P |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,554,035 (GRCm39) |
V194E |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,402,919 (GRCm39) |
S3208P |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,653,755 (GRCm39) |
Y292C |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,968,412 (GRCm39) |
V227A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,174,716 (GRCm39) |
V290A |
probably damaging |
Het |
| Epb41l4a |
A |
C |
18: 34,012,042 (GRCm39) |
Y159* |
probably null |
Het |
| Gm5460 |
T |
A |
14: 33,739,326 (GRCm39) |
S103T |
|
Het |
| Gsto1 |
A |
T |
19: 47,852,837 (GRCm39) |
Y224F |
probably benign |
Het |
| Hpd |
G |
A |
5: 123,313,973 (GRCm39) |
T271M |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,506,271 (GRCm39) |
I18T |
probably benign |
Het |
| Kif12 |
A |
G |
4: 63,087,704 (GRCm39) |
C260R |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Luc7l3 |
A |
G |
11: 94,188,676 (GRCm39) |
V201A |
unknown |
Het |
| Mcrip2 |
T |
C |
17: 26,082,989 (GRCm39) |
E146G |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 76,836,741 (GRCm39) |
Y323N |
probably benign |
Het |
| Micu2 |
T |
A |
14: 58,156,363 (GRCm39) |
I370F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,061,328 (GRCm39) |
V1416E |
probably damaging |
Het |
| Mup3 |
T |
C |
4: 62,003,540 (GRCm39) |
N110D |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,699,613 (GRCm39) |
D294N |
possibly damaging |
Het |
| Nphs2 |
G |
A |
1: 156,140,592 (GRCm39) |
A110T |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,563 (GRCm39) |
I78T |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,506,831 (GRCm39) |
M282T |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,527,419 (GRCm39) |
|
probably null |
Het |
| Pgrmc2 |
G |
T |
3: 41,037,105 (GRCm39) |
R109S |
probably benign |
Het |
| Plb1 |
G |
A |
5: 32,439,079 (GRCm39) |
V214I |
probably damaging |
Het |
| Ppp2r5d |
C |
T |
17: 46,998,906 (GRCm39) |
S52N |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,718 (GRCm39) |
E1082* |
probably null |
Het |
| Skint3 |
A |
G |
4: 112,111,151 (GRCm39) |
E92G |
probably damaging |
Het |
| Slc12a1 |
C |
G |
2: 124,996,004 (GRCm39) |
N52K |
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,738,361 (GRCm39) |
Y458H |
probably damaging |
Het |
| Spsb3 |
C |
T |
17: 25,110,506 (GRCm39) |
P317S |
unknown |
Het |
| Ssc5d |
A |
T |
7: 4,930,919 (GRCm39) |
Q167L |
probably damaging |
Het |
| Stag3 |
G |
A |
5: 138,296,296 (GRCm39) |
R453H |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,239 (GRCm39) |
F371I |
probably benign |
Het |
| Tas2r140 |
A |
C |
6: 133,032,181 (GRCm39) |
S192R |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,840 (GRCm39) |
I166V |
possibly damaging |
Het |
| Tgm3 |
C |
A |
2: 129,871,680 (GRCm39) |
Q269K |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 130,087,426 (GRCm39) |
C1181Y |
probably damaging |
Het |
| Tinag |
A |
T |
9: 76,934,296 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,179 (GRCm39) |
V227A |
possibly damaging |
Het |
| Tox3 |
A |
C |
8: 90,996,864 (GRCm39) |
L133R |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,639 (GRCm39) |
I923N |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,855,429 (GRCm39) |
V2498D |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 18,994,723 (GRCm39) |
|
probably null |
Het |
| Xylt2 |
T |
C |
11: 94,555,462 (GRCm39) |
D850G |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,964,321 (GRCm39) |
S184T |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp595 |
C |
A |
13: 67,468,989 (GRCm39) |
M12I |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,403,149 (GRCm39) |
Q533R |
probably benign |
Het |
|
| Other mutations in Ssh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Ssh2
|
APN |
11 |
77,332,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01141:Ssh2
|
APN |
11 |
77,340,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Ssh2
|
APN |
11 |
77,340,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01803:Ssh2
|
APN |
11 |
77,316,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01989:Ssh2
|
APN |
11 |
77,344,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02322:Ssh2
|
APN |
11 |
77,307,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02466:Ssh2
|
APN |
11 |
77,307,233 (GRCm39) |
splice site |
probably benign |
|
|
IGL02683:Ssh2
|
APN |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02706:Ssh2
|
APN |
11 |
77,344,232 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02719:Ssh2
|
APN |
11 |
77,316,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02721:Ssh2
|
APN |
11 |
77,345,551 (GRCm39) |
nonsense |
probably null |
|
|
IGL02732:Ssh2
|
APN |
11 |
77,328,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02745:Ssh2
|
APN |
11 |
77,346,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Ssh2
|
APN |
11 |
77,344,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Ssh2
|
APN |
11 |
77,312,032 (GRCm39) |
splice site |
probably benign |
|
|
david
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
faba
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
goliath
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Vicia
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03055:Ssh2
|
UTSW |
11 |
77,299,021 (GRCm39) |
nonsense |
probably null |
|
|
R0024:Ssh2
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0374:Ssh2
|
UTSW |
11 |
77,298,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0834:Ssh2
|
UTSW |
11 |
77,328,459 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1714:Ssh2
|
UTSW |
11 |
77,344,850 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1743:Ssh2
|
UTSW |
11 |
77,328,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Ssh2
|
UTSW |
11 |
77,345,494 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3947:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3948:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4133:Ssh2
|
UTSW |
11 |
77,312,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Ssh2
|
UTSW |
11 |
77,299,009 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4499:Ssh2
|
UTSW |
11 |
77,283,893 (GRCm39) |
nonsense |
probably null |
|
|
R4548:Ssh2
|
UTSW |
11 |
77,341,010 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4644:Ssh2
|
UTSW |
11 |
77,340,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4690:Ssh2
|
UTSW |
11 |
77,346,031 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4788:Ssh2
|
UTSW |
11 |
77,320,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Ssh2
|
UTSW |
11 |
77,316,146 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5014:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
|
R5380:Ssh2
|
UTSW |
11 |
77,344,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5574:Ssh2
|
UTSW |
11 |
77,340,941 (GRCm39) |
missense |
probably benign |
|
|
R5593:Ssh2
|
UTSW |
11 |
77,312,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Ssh2
|
UTSW |
11 |
77,340,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Ssh2
|
UTSW |
11 |
77,344,291 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6542:Ssh2
|
UTSW |
11 |
77,340,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6713:Ssh2
|
UTSW |
11 |
77,340,259 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7108:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
|
|
R7124:Ssh2
|
UTSW |
11 |
77,345,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7255:Ssh2
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Ssh2
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7362:Ssh2
|
UTSW |
11 |
77,340,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7395:Ssh2
|
UTSW |
11 |
77,283,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Ssh2
|
UTSW |
11 |
77,340,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7493:Ssh2
|
UTSW |
11 |
77,328,542 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7686:Ssh2
|
UTSW |
11 |
77,316,150 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7870:Ssh2
|
UTSW |
11 |
77,344,441 (GRCm39) |
missense |
probably benign |
|
|
R7895:Ssh2
|
UTSW |
11 |
77,345,452 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7963:Ssh2
|
UTSW |
11 |
77,312,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8030:Ssh2
|
UTSW |
11 |
77,345,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8065:Ssh2
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Ssh2
|
UTSW |
11 |
77,345,755 (GRCm39) |
nonsense |
probably null |
|
|
R8294:Ssh2
|
UTSW |
11 |
77,345,027 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8464:Ssh2
|
UTSW |
11 |
77,345,079 (GRCm39) |
nonsense |
probably null |
|
|
R8469:Ssh2
|
UTSW |
11 |
77,340,434 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8547:Ssh2
|
UTSW |
11 |
77,340,533 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8677:Ssh2
|
UTSW |
11 |
77,346,019 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8758:Ssh2
|
UTSW |
11 |
77,344,843 (GRCm39) |
missense |
probably benign |
|
|
R9030:Ssh2
|
UTSW |
11 |
77,312,062 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9126:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
|
R9146:Ssh2
|
UTSW |
11 |
77,328,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9377:Ssh2
|
UTSW |
11 |
77,298,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9483:Ssh2
|
UTSW |
11 |
77,283,976 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9615:Ssh2
|
UTSW |
11 |
77,316,203 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
RF018:Ssh2
|
UTSW |
11 |
77,344,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Ssh2
|
UTSW |
11 |
77,332,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ssh2
|
UTSW |
11 |
77,340,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAAATTGCTAGGTTGTGGGTATC -3'
(R):5'- AGTCTCACCACAGTCTCAGC -3'
Sequencing Primer
(F):5'- ATTGCTAGGTTGTGGGTATCAGTTTG -3'
(R):5'- CAGCTACACTGTGGAGAGGGATC -3'
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| Posted On |
2021-11-19 |
Incidental Mutation