Incidental Mutation 'R0834:Ssh2'
ID |
77745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh2
|
Ensembl Gene |
ENSMUSG00000037926 |
Gene Name |
slingshot protein phosphatase 2 |
Synonyms |
SSH-2 |
MMRRC Submission |
039013-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R0834 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77328459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 336
(Y336H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042625
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
AlphaFold |
Q5SW75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037912
AA Change: Y336H
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042625 Gene: ENSMUSG00000037926 AA Change: Y336H
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: ENSMUST00000181283
AA Change: Y342H
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000137933 Gene: ENSMUSG00000037926 AA Change: Y342H
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 |
|
Meta Mutation Damage Score |
0.3143 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (86/86) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,063,899 (GRCm39) |
E66V |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,062,658 (GRCm39) |
I156V |
probably benign |
Het |
Ang4 |
T |
A |
14: 52,001,725 (GRCm39) |
K74N |
probably benign |
Het |
Arcn1 |
A |
T |
9: 44,670,172 (GRCm39) |
|
probably benign |
Het |
Arhgef33 |
T |
A |
17: 80,655,026 (GRCm39) |
|
probably benign |
Het |
Atn1 |
A |
G |
6: 124,720,188 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
A |
G |
6: 146,724,185 (GRCm39) |
H359R |
probably damaging |
Het |
Bmerb1 |
T |
C |
16: 13,911,795 (GRCm39) |
L47P |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,083,653 (GRCm39) |
T123A |
probably benign |
Het |
Camkv |
A |
G |
9: 107,823,045 (GRCm39) |
Y95C |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,095,211 (GRCm39) |
S340T |
probably benign |
Het |
Ckap2l |
G |
A |
2: 129,138,224 (GRCm39) |
|
probably benign |
Het |
Clmn |
A |
T |
12: 104,738,085 (GRCm39) |
L1042Q |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,738,086 (GRCm39) |
L1042M |
probably damaging |
Het |
Cluh |
T |
C |
11: 74,554,631 (GRCm39) |
V737A |
probably benign |
Het |
Cpne8 |
A |
G |
15: 90,424,462 (GRCm39) |
V309A |
probably benign |
Het |
Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,747,073 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,650,159 (GRCm39) |
S818T |
probably benign |
Het |
Cyp26a1 |
C |
T |
19: 37,688,405 (GRCm39) |
A309V |
probably damaging |
Het |
Dbndd2 |
C |
T |
2: 164,332,122 (GRCm39) |
T115I |
possibly damaging |
Het |
Dhcr7 |
A |
G |
7: 143,394,964 (GRCm39) |
N157S |
probably benign |
Het |
Dlx2 |
C |
A |
2: 71,375,859 (GRCm39) |
V155F |
probably damaging |
Het |
Duox1 |
A |
T |
2: 122,176,982 (GRCm39) |
I1470F |
probably damaging |
Het |
Esrrb |
A |
T |
12: 86,517,071 (GRCm39) |
I68F |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,248,862 (GRCm39) |
L1347* |
probably null |
Het |
Fip1l1 |
T |
C |
5: 74,755,721 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,413,637 (GRCm39) |
Y1966C |
probably damaging |
Het |
Gatd3a |
T |
C |
10: 77,998,539 (GRCm39) |
D229G |
probably damaging |
Het |
Ggt5 |
C |
T |
10: 75,440,604 (GRCm39) |
R242C |
possibly damaging |
Het |
Gm14496 |
G |
A |
2: 181,637,480 (GRCm39) |
V185I |
probably benign |
Het |
Gnptab |
T |
C |
10: 88,265,814 (GRCm39) |
V409A |
probably damaging |
Het |
Gramd1a |
A |
G |
7: 30,837,589 (GRCm39) |
F390S |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,872,570 (GRCm39) |
S2477P |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,236,936 (GRCm39) |
K3E |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,414,715 (GRCm39) |
H1395R |
probably benign |
Het |
Jam2 |
T |
A |
16: 84,609,855 (GRCm39) |
C180S |
probably damaging |
Het |
Kalrn |
A |
C |
16: 33,870,289 (GRCm39) |
S160A |
possibly damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,979 (GRCm39) |
I343T |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,967,712 (GRCm39) |
E334G |
probably damaging |
Het |
Klhl41 |
A |
G |
2: 69,508,491 (GRCm39) |
K482E |
possibly damaging |
Het |
Lig3 |
A |
G |
11: 82,689,113 (GRCm39) |
E794G |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
Ndst2 |
A |
G |
14: 20,779,761 (GRCm39) |
Y160H |
probably damaging |
Het |
Ndufb10 |
T |
C |
17: 24,941,648 (GRCm39) |
M90V |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,024,104 (GRCm39) |
K522R |
probably benign |
Het |
Olfml2b |
T |
C |
1: 170,475,413 (GRCm39) |
S113P |
probably benign |
Het |
Or14a257 |
T |
A |
7: 86,138,698 (GRCm39) |
E20D |
probably benign |
Het |
Or4a78 |
A |
G |
2: 89,497,423 (GRCm39) |
I269T |
probably benign |
Het |
Or4d10b |
T |
A |
19: 12,036,979 (GRCm39) |
M46L |
probably benign |
Het |
Or51v14 |
T |
C |
7: 103,261,444 (GRCm39) |
T39A |
probably benign |
Het |
Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
Parg |
T |
C |
14: 31,936,511 (GRCm39) |
|
probably benign |
Het |
Pde7a |
C |
T |
3: 19,284,482 (GRCm39) |
C367Y |
probably damaging |
Het |
Pigr |
T |
A |
1: 130,772,281 (GRCm39) |
C166* |
probably null |
Het |
Pip4k2c |
A |
T |
10: 127,036,704 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Prkd2 |
A |
T |
7: 16,599,602 (GRCm39) |
|
probably benign |
Het |
Ptprt |
G |
T |
2: 161,654,059 (GRCm39) |
|
probably null |
Het |
Rapgef5 |
C |
T |
12: 117,610,741 (GRCm39) |
|
probably benign |
Het |
Retreg1 |
T |
C |
15: 25,971,756 (GRCm39) |
L356P |
probably benign |
Het |
Rigi |
T |
A |
4: 40,239,596 (GRCm39) |
E34V |
possibly damaging |
Het |
Rnf43 |
A |
G |
11: 87,622,077 (GRCm39) |
T393A |
probably benign |
Het |
Samd3 |
T |
C |
10: 26,147,725 (GRCm39) |
S467P |
probably benign |
Het |
Scarf1 |
C |
A |
11: 75,405,229 (GRCm39) |
C89* |
probably null |
Het |
Sdk1 |
T |
C |
5: 141,227,779 (GRCm39) |
L59S |
probably benign |
Het |
Sgca |
C |
T |
11: 94,861,512 (GRCm39) |
W244* |
probably null |
Het |
Sh3d21 |
T |
C |
4: 126,045,065 (GRCm39) |
K538R |
probably benign |
Het |
Smyd4 |
T |
A |
11: 75,281,958 (GRCm39) |
L477Q |
possibly damaging |
Het |
Sra1 |
A |
G |
18: 36,801,829 (GRCm39) |
M87T |
probably benign |
Het |
Steap1 |
T |
C |
5: 5,790,357 (GRCm39) |
Y197C |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,673,879 (GRCm39) |
|
probably benign |
Het |
Tgm3 |
A |
G |
2: 129,868,677 (GRCm39) |
T205A |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,101,512 (GRCm39) |
T374I |
probably damaging |
Het |
Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
Trim10 |
G |
A |
17: 37,183,283 (GRCm39) |
S193N |
probably benign |
Het |
Ttf1 |
A |
T |
2: 28,963,962 (GRCm39) |
K613* |
probably null |
Het |
Tube1 |
T |
A |
10: 39,010,168 (GRCm39) |
|
probably null |
Het |
Uimc1 |
T |
A |
13: 55,224,222 (GRCm39) |
|
probably null |
Het |
Wwp2 |
G |
T |
8: 108,283,428 (GRCm39) |
|
probably benign |
Het |
Zfp101 |
C |
T |
17: 33,601,418 (GRCm39) |
V113I |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,809,114 (GRCm39) |
D1310G |
probably benign |
Het |
Zfp575 |
A |
T |
7: 24,285,245 (GRCm39) |
L132H |
probably damaging |
Het |
Zmym2 |
T |
C |
14: 57,194,420 (GRCm39) |
F1226S |
probably damaging |
Het |
Zswim6 |
A |
C |
13: 107,862,989 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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'- TCCAGCTCTCCACAGATCTTCACAG -3'
(R):5'- TCAGTCTCACCACAGTCTCAGCTAC -3'
Sequencing Primer
(F):5'- CAACATAAATTGCTAGGTTGTGGG -3'
(R):5'- AGTCTCAGCTACACTGTGGAG -3'
|
Posted On |
2013-10-16 |