Incidental Mutation 'R1743:Ssh2'
| ID |
200526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
039775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R1743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77328582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 383
(F383I)
|
| 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: F377I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: F377I
| 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: F383I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: F383I
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
A |
11: 53,259,522 (GRCm39) |
M11K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,722,324 (GRCm39) |
D88G |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,170,727 (GRCm39) |
E1169G |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,496,403 (GRCm39) |
V865E |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,825,504 (GRCm39) |
Y13* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,886,751 (GRCm39) |
Q693R |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,655,770 (GRCm39) |
D520G |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,188,773 (GRCm39) |
Y770* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,386,460 (GRCm39) |
E1940G |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,825 (GRCm39) |
V421A |
probably benign |
Het |
| Cnnm1 |
A |
T |
19: 43,460,352 (GRCm39) |
Y698F |
possibly damaging |
Het |
| Cnst |
C |
T |
1: 179,437,957 (GRCm39) |
T507I |
probably benign |
Het |
| Coq8a |
T |
C |
1: 180,009,794 (GRCm39) |
M4V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,485,485 (GRCm39) |
L140P |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,426,851 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,988,625 (GRCm39) |
E3198D |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,803,017 (GRCm39) |
R58L |
possibly damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,237 (GRCm39) |
I112F |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,560,570 (GRCm39) |
E532G |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,889,521 (GRCm39) |
V37E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,677,603 (GRCm39) |
F759S |
possibly damaging |
Het |
| Ghr |
G |
A |
15: 3,349,723 (GRCm39) |
P485L |
probably benign |
Het |
| Glipr1l2 |
G |
T |
10: 111,928,470 (GRCm39) |
V122L |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,876 (GRCm39) |
T287K |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,120 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
C |
T |
9: 15,001,364 (GRCm39) |
V254I |
probably damaging |
Het |
| Hnf4a |
C |
A |
2: 163,408,259 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Kcne3 |
C |
T |
7: 99,833,631 (GRCm39) |
R83C |
probably damaging |
Het |
| Klb |
C |
A |
5: 65,533,204 (GRCm39) |
N504K |
probably damaging |
Het |
| Loxl2 |
T |
A |
14: 69,929,851 (GRCm39) |
I743N |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,502,891 (GRCm39) |
L287F |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,508 (GRCm39) |
P822L |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,950,155 (GRCm39) |
N527S |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,468,445 (GRCm39) |
P338H |
probably damaging |
Het |
| Nfkbiz |
G |
T |
16: 55,636,757 (GRCm39) |
Q515K |
possibly damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,834,149 (GRCm39) |
L263P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,015,032 (GRCm39) |
S73T |
probably benign |
Het |
| Nomo1 |
G |
A |
7: 45,719,461 (GRCm39) |
|
probably null |
Het |
| Nos3 |
G |
A |
5: 24,582,310 (GRCm39) |
G594D |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,780,105 (GRCm39) |
I256V |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,723 (GRCm39) |
T148A |
probably benign |
Het |
| Or10n1 |
A |
T |
9: 39,524,916 (GRCm39) |
T18S |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,620 (GRCm39) |
I150V |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,217,309 (GRCm39) |
L24Q |
possibly damaging |
Het |
| Pcdhb14 |
T |
G |
18: 37,581,231 (GRCm39) |
S112R |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,329 (GRCm39) |
I1246T |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,683,145 (GRCm39) |
K327N |
probably damaging |
Het |
| Pramel30 |
T |
C |
4: 144,059,575 (GRCm39) |
S429P |
probably benign |
Het |
| Pstpip1 |
T |
C |
9: 56,033,214 (GRCm39) |
Y249H |
probably damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,511 (GRCm39) |
V369E |
probably damaging |
Het |
| Ranbp10 |
G |
T |
8: 106,506,610 (GRCm39) |
P237T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,567,110 (GRCm39) |
N1097S |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,684 (GRCm39) |
S538T |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,543,046 (GRCm39) |
M1151L |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,356,355 (GRCm39) |
D965E |
possibly damaging |
Het |
| Sdc2 |
A |
G |
15: 33,028,224 (GRCm39) |
D114G |
probably benign |
Het |
| Slc25a30 |
C |
A |
14: 76,012,523 (GRCm39) |
A42S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| St8sia1 |
A |
T |
6: 142,774,742 (GRCm39) |
V279E |
probably damaging |
Het |
| Tacc2 |
C |
A |
7: 130,228,328 (GRCm39) |
S1690* |
probably null |
Het |
| Taf1b |
A |
G |
12: 24,597,177 (GRCm39) |
D372G |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem165 |
G |
T |
5: 76,355,673 (GRCm39) |
G272C |
probably damaging |
Het |
| Tsc22d2 |
TCAGTTAACACCTATGAACAGT |
TCAGT |
3: 58,324,960 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
C |
A |
14: 55,888,488 (GRCm39) |
A119D |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,727 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,264 (GRCm39) |
M786K |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,991,931 (GRCm39) |
T3470K |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,448 (GRCm39) |
V479A |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,796 (GRCm39) |
R263Q |
probably 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 |
|
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'- CATGGCAGATACAGGGCTGGAAATT -3'
(R):5'- TTGCTGCTTAGTGGAAAATGAGGCT -3'
Sequencing Primer
(F):5'- TAGTTTTAGCCTGAAAATAACATGCG -3'
(R):5'- tctttcccttcctttcttccttc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation