Incidental Mutation 'R5739:Ssh2'
| ID |
444703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
043351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R5739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77340639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 597
(D597G)
|
| 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: D591G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: D591G
| 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: D597G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: D597G
| 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 |
0.2820 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (82/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,220,717 (GRCm39) |
S50T |
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,369,289 (GRCm39) |
L529P |
probably damaging |
Het |
| Acer2 |
A |
T |
4: 86,818,792 (GRCm39) |
N147Y |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,901 (GRCm39) |
E353G |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,632,737 (GRCm39) |
F60L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,260 (GRCm39) |
D120V |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,258,728 (GRCm39) |
D265G |
possibly damaging |
Het |
| Aurkc |
A |
T |
7: 7,005,859 (GRCm39) |
Y249F |
probably benign |
Het |
| Bmal1 |
G |
A |
7: 112,884,238 (GRCm39) |
R92Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,389,528 (GRCm39) |
I274V |
probably benign |
Het |
| Camk2n2 |
C |
A |
16: 20,439,830 (GRCm39) |
G39C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,880,710 (GRCm39) |
L419P |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,141,388 (GRCm39) |
M3117V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,357 (GRCm39) |
E280G |
probably benign |
Het |
| Cherp |
TGCTGGTGGTGGGG |
TG |
8: 73,221,659 (GRCm39) |
|
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,646 (GRCm39) |
V494A |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| Crb2 |
T |
G |
2: 37,683,666 (GRCm39) |
V1056G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,290,612 (GRCm39) |
F363S |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,402,594 (GRCm39) |
V356E |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,715 (GRCm39) |
S449G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,273,152 (GRCm39) |
I2427F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,937,981 (GRCm39) |
D1619E |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,850,995 (GRCm39) |
S836T |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,478,117 (GRCm39) |
|
probably null |
Het |
| Drc3 |
G |
A |
11: 60,265,956 (GRCm39) |
R215H |
possibly damaging |
Het |
| Entpd2 |
T |
C |
2: 25,289,504 (GRCm39) |
S329P |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,603,857 (GRCm39) |
S332P |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,206 (GRCm39) |
Y286N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,283 (GRCm39) |
V3645A |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,287 (GRCm39) |
F668L |
possibly damaging |
Het |
| Gm14403 |
T |
A |
2: 177,201,040 (GRCm39) |
C329S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,684,448 (GRCm39) |
T374I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,634,225 (GRCm39) |
|
probably null |
Het |
| Hrnr |
T |
C |
3: 93,230,436 (GRCm39) |
S225P |
unknown |
Het |
| Ifi202b |
C |
T |
1: 173,798,918 (GRCm39) |
|
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,368 (GRCm39) |
D394E |
possibly damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,735 (GRCm39) |
D275E |
probably benign |
Het |
| Jaml |
A |
T |
9: 45,000,026 (GRCm39) |
D108V |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,872 (GRCm39) |
V443A |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,473,637 (GRCm39) |
S126R |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,788,450 (GRCm39) |
I354T |
probably damaging |
Het |
| Nucb1 |
A |
T |
7: 45,151,084 (GRCm39) |
L99Q |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,873,128 (GRCm39) |
F83S |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,249,778 (GRCm39) |
S541P |
probably benign |
Het |
| Pdpr |
A |
T |
8: 111,861,252 (GRCm39) |
I749F |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,425 (GRCm39) |
F580I |
probably damaging |
Het |
| Phyhipl |
T |
C |
10: 70,395,399 (GRCm39) |
D269G |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,223 (GRCm39) |
D110G |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,107,570 (GRCm39) |
L115P |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,281 (GRCm39) |
L94P |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,276 (GRCm39) |
M141K |
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,283,995 (GRCm39) |
H188L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,604,296 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,333 (GRCm39) |
S150T |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,823,203 (GRCm39) |
T903A |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,306 (GRCm39) |
L10S |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,012 (GRCm39) |
T114A |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,619 (GRCm39) |
E1735V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,264,950 (GRCm39) |
Y60N |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,110,814 (GRCm39) |
V508E |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,278,381 (GRCm39) |
|
probably null |
Het |
| Rxfp4 |
A |
G |
3: 88,559,209 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
A |
G |
1: 176,653,797 (GRCm39) |
T85A |
probably benign |
Het |
| Slc46a1 |
A |
T |
11: 78,357,975 (GRCm39) |
I343F |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,044,239 (GRCm39) |
V3942E |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,708,573 (GRCm39) |
S200P |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,265,834 (GRCm39) |
|
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,129,013 (GRCm39) |
T66A |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,240,183 (GRCm39) |
K1103* |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,350,492 (GRCm39) |
V458A |
probably damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,134 (GRCm39) |
S181P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,114 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,002,925 (GRCm39) |
N112Y |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zc3h10 |
T |
C |
10: 128,380,670 (GRCm39) |
N229S |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,226,867 (GRCm39) |
*2247W |
probably null |
Het |
| Zfyve1 |
C |
A |
12: 83,621,910 (GRCm39) |
V162L |
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 |
|
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'- CTGCTTGGAGTTTTCTTCACAAG -3'
(R):5'- CTCTACAAATTTCTCCAGGGCAC -3'
Sequencing Primer
(F):5'- TCACAAGAGTTTCGTGCCG -3'
(R):5'- ACATGGGGAGGTCTTTCA -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation