Incidental Mutation 'R9483:Ssh2'
| ID |
716389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R9483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77283976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 77
(A77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000156488]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037912
AA Change: A70S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: A70S
| 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 |
possibly damaging
Transcript: ENSMUST00000156488
AA Change: A97S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119681
Gene: ENSMUSG00000037926
AA Change: A97S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181283
AA Change: A77S
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: A77S
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
T |
5: 113,339,010 (GRCm39) |
M334K |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,060,351 (GRCm39) |
I1525N |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,879,275 (GRCm39) |
I398F |
|
Het |
| Acbd3 |
A |
G |
1: 180,572,721 (GRCm39) |
D327G |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,383,166 (GRCm39) |
T544A |
probably damaging |
Het |
| Atp11a |
C |
T |
8: 12,901,087 (GRCm39) |
T972M |
probably damaging |
Het |
| Cbfb |
C |
T |
8: 105,929,123 (GRCm39) |
R147* |
probably null |
Het |
| Ccdc17 |
G |
T |
4: 116,454,144 (GRCm39) |
R54L |
probably benign |
Het |
| Cracdl |
T |
G |
1: 37,670,496 (GRCm39) |
E148A |
probably damaging |
Het |
| Cuedc2 |
G |
T |
19: 46,319,399 (GRCm39) |
A223E |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,532,474 (GRCm39) |
I787V |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,087,563 (GRCm39) |
H471L |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,448,916 (GRCm39) |
Y264H |
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,665 (GRCm39) |
R778S |
probably damaging |
Het |
| Esrrg |
T |
C |
1: 187,930,848 (GRCm39) |
V313A |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,844,100 (GRCm39) |
I536T |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,127,272 (GRCm39) |
F275L |
possibly damaging |
Het |
| Gabrg1 |
C |
A |
5: 70,999,558 (GRCm39) |
G2V |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,089 (GRCm39) |
A748D |
probably damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,511 (GRCm39) |
D250G |
probably benign |
Het |
| Gm44501 |
A |
T |
17: 40,889,872 (GRCm39) |
K129* |
probably null |
Het |
| Hmcn2 |
T |
G |
2: 31,320,375 (GRCm39) |
L3952R |
|
Het |
| Hpd |
A |
G |
5: 123,312,535 (GRCm39) |
I278T |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,346,904 (GRCm39) |
F613Y |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,346,817 (GRCm39) |
F584S |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,886,635 (GRCm39) |
D369G |
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,198,719 (GRCm39) |
L365P |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,508,542 (GRCm39) |
Q190L |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,834 (GRCm39) |
V1033A |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,120,032 (GRCm39) |
Y112H |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,238 (GRCm39) |
H10R |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,790,734 (GRCm39) |
L93H |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,158,183 (GRCm39) |
C34Y |
probably damaging |
Het |
| Lrrc47 |
A |
T |
4: 154,101,920 (GRCm39) |
I396F |
probably damaging |
Het |
| Mgat3 |
T |
A |
15: 80,095,641 (GRCm39) |
V156E |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,232,300 (GRCm39) |
D1120G |
possibly damaging |
Het |
| Muc5ac |
G |
T |
7: 141,365,465 (GRCm39) |
E2700* |
probably null |
Het |
| Nxpe5 |
A |
T |
5: 138,228,591 (GRCm39) |
|
probably benign |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,931 (GRCm39) |
T79A |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhga4 |
T |
A |
18: 37,819,746 (GRCm39) |
S432T |
possibly damaging |
Het |
| Pdk4 |
T |
A |
6: 5,486,716 (GRCm39) |
M353L |
probably benign |
Het |
| Ppp1r13b |
T |
A |
12: 111,800,210 (GRCm39) |
K645N |
probably benign |
Het |
| Ppt1 |
A |
T |
4: 122,751,367 (GRCm39) |
D288V |
possibly damaging |
Het |
| Prkcb |
A |
G |
7: 122,181,663 (GRCm39) |
Y417C |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,215,721 (GRCm39) |
I67T |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,795,508 (GRCm39) |
V40A |
possibly damaging |
Het |
| Rae1 |
T |
C |
2: 172,849,941 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
T |
8: 13,630,033 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,717 (GRCm39) |
D258G |
probably benign |
Het |
| Rcc1 |
T |
A |
4: 132,062,808 (GRCm39) |
T208S |
probably benign |
Het |
| Rgs3 |
C |
A |
4: 62,575,354 (GRCm39) |
Y580* |
probably null |
Het |
| Rpe65 |
C |
T |
3: 159,328,318 (GRCm39) |
P405S |
probably damaging |
Het |
| Rsf1 |
GGCGGC |
GGCGGCGGCAGCGGC |
7: 97,229,137 (GRCm39) |
|
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,790,418 (GRCm39) |
E669G |
probably damaging |
Het |
| Rusc1 |
A |
T |
3: 88,994,113 (GRCm39) |
V964E |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,897 (GRCm39) |
N401S |
probably damaging |
Het |
| Slc10a1 |
G |
T |
12: 81,002,864 (GRCm39) |
T258K |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,747,418 (GRCm39) |
L323P |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,378,772 (GRCm39) |
I637F |
possibly damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,886,780 (GRCm39) |
E641G |
possibly damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,789,974 (GRCm39) |
A1321S |
probably damaging |
Het |
| St13 |
G |
T |
15: 81,250,587 (GRCm39) |
N316K |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,062 (GRCm39) |
M121T |
probably benign |
Het |
| Tcta |
T |
C |
9: 108,182,942 (GRCm39) |
T68A |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,577,889 (GRCm39) |
Y81N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,769 (GRCm39) |
E161G |
probably damaging |
Het |
| Tmed10 |
T |
C |
12: 85,397,621 (GRCm39) |
I123V |
probably benign |
Het |
| Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
| Tubg1 |
A |
G |
11: 101,016,886 (GRCm39) |
D396G |
probably damaging |
Het |
| Uhmk1 |
A |
G |
1: 170,034,913 (GRCm39) |
|
probably null |
Het |
| Unc13a |
C |
T |
8: 72,103,221 (GRCm39) |
A922T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,219,379 (GRCm39) |
V525E |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,037 (GRCm39) |
Q823K |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,224,031 (GRCm39) |
I764F |
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,648,641 (GRCm39) |
Y62H |
|
Het |
| Zfp423 |
T |
A |
8: 88,507,725 (GRCm39) |
N873I |
possibly damaging |
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 |
|
|
R9029:Ssh2
|
UTSW |
11 |
77,328,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GAAATCTTAAACTGGGTCTCTTCATCC -3'
(R):5'- CACTCCTGGAGGTCACAAAC -3'
Sequencing Primer
(F):5'- AAACTGGGTCTCTTCATCCTATCTAC -3'
(R):5'- AAGACTCAGTCCACTTTGGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation