Incidental Mutation 'R1714:Ssh2'
| ID |
190877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
039747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R1714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77344850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 945
(G945D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037912
AA Change: G939D
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: G939D
| 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: G945D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: G945D
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,464,479 (GRCm39) |
T892I |
possibly damaging |
Het |
| Abcb11 |
A |
C |
2: 69,136,925 (GRCm39) |
F179V |
probably damaging |
Het |
| Adgrg6 |
G |
T |
10: 14,315,514 (GRCm39) |
Q597K |
possibly damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,916 (GRCm39) |
Y464* |
probably null |
Het |
| Apba1 |
G |
A |
19: 23,922,316 (GRCm39) |
E795K |
possibly damaging |
Het |
| Aqp12 |
T |
A |
1: 92,934,681 (GRCm39) |
V186D |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,631,112 (GRCm39) |
S2R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,760,853 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,171,245 (GRCm39) |
H219Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,984,559 (GRCm39) |
Y417H |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,833,994 (GRCm39) |
F932I |
possibly damaging |
Het |
| Cxxc1 |
C |
A |
18: 74,352,934 (GRCm39) |
R415S |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,813,400 (GRCm39) |
A182V |
probably benign |
Het |
| Ddx11 |
T |
G |
17: 66,455,754 (GRCm39) |
W718G |
probably damaging |
Het |
| Dmd |
A |
C |
X: 83,008,356 (GRCm39) |
T2069P |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,632,164 (GRCm39) |
F533L |
probably benign |
Het |
| Dnajc5b |
A |
T |
3: 19,633,265 (GRCm39) |
R163* |
probably null |
Het |
| Dynll2 |
T |
A |
11: 87,874,838 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
A |
G |
1: 44,206,499 (GRCm39) |
T471A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,016,435 (GRCm39) |
D563G |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,658 (GRCm39) |
Y6C |
probably damaging |
Het |
| Fcrl5 |
T |
A |
3: 87,353,713 (GRCm39) |
S353T |
probably damaging |
Het |
| Gabrb3 |
A |
T |
7: 57,415,176 (GRCm39) |
Y82F |
probably damaging |
Het |
| Gm20939 |
C |
A |
17: 95,183,234 (GRCm39) |
P157T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,117,935 (GRCm39) |
T69A |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,321,041 (GRCm39) |
H468Q |
probably benign |
Het |
| Il20ra |
T |
C |
10: 19,631,576 (GRCm39) |
V259A |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,414 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,871,912 (GRCm39) |
S586P |
probably benign |
Het |
| Kl |
A |
T |
5: 150,876,798 (GRCm39) |
Y206F |
probably benign |
Het |
| Klk1b24 |
C |
A |
7: 43,840,939 (GRCm39) |
D122E |
probably damaging |
Het |
| Kmt2d |
A |
C |
15: 98,760,831 (GRCm39) |
S840A |
unknown |
Het |
| Krt34 |
A |
G |
11: 99,930,953 (GRCm39) |
S150P |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,769 (GRCm39) |
K1502R |
probably benign |
Het |
| Letm1 |
G |
T |
5: 33,918,228 (GRCm39) |
R306S |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,768,398 (GRCm39) |
G397S |
probably null |
Het |
| Lrrc8c |
A |
G |
5: 105,755,157 (GRCm39) |
T311A |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,198 (GRCm39) |
D552V |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,054,232 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
T |
C |
6: 126,799,154 (GRCm39) |
|
probably null |
Het |
| Or4e5 |
A |
C |
14: 52,727,871 (GRCm39) |
|
probably null |
Het |
| Or4f4b |
A |
T |
2: 111,314,008 (GRCm39) |
I78F |
probably damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,614 (GRCm39) |
C141Y |
probably damaging |
Het |
| Polr3d |
A |
C |
14: 70,678,755 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ppp5c |
T |
C |
7: 16,742,628 (GRCm39) |
I237V |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,504,945 (GRCm39) |
T2632M |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,697 (GRCm38) |
Q1022K |
probably damaging |
Het |
| Pus10 |
T |
A |
11: 23,675,542 (GRCm39) |
H471Q |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,174 (GRCm39) |
V1928A |
probably damaging |
Het |
| Rbpms2 |
CACT |
CACTACT |
9: 65,558,947 (GRCm39) |
|
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
T |
G |
7: 5,113,357 (GRCm39) |
T269P |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 128,004,946 (GRCm39) |
V72A |
probably damaging |
Het |
| Rsph1 |
T |
C |
17: 31,474,190 (GRCm39) |
N289S |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,966,121 (GRCm39) |
D21G |
probably benign |
Het |
| Shbg |
A |
T |
11: 69,507,983 (GRCm39) |
D127E |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 69,882,164 (GRCm39) |
E52G |
probably damaging |
Het |
| Sstr3 |
A |
T |
15: 78,424,473 (GRCm39) |
D91E |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,101,713 (GRCm39) |
A669E |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,208,907 (GRCm39) |
I109V |
probably benign |
Het |
| Ube2j1 |
A |
G |
4: 33,049,886 (GRCm39) |
T295A |
probably damaging |
Het |
| Usp46 |
A |
G |
5: 74,163,828 (GRCm39) |
V276A |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,640 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ydjc |
G |
A |
16: 16,965,663 (GRCm39) |
V143M |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,652,330 (GRCm39) |
E29G |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,808,935 (GRCm39) |
S1370P |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,238,591 (GRCm39) |
D185N |
probably damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,202 (GRCm39) |
N123Y |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,442 (GRCm39) |
I89N |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,080,583 (GRCm39) |
L419P |
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 |
|
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'- AGGCTGTCTGACCACACACTCATC -3'
(R):5'- TGTCACATTCCTGGTTTGGAACCAC -3'
Sequencing Primer
(F):5'- AGCCACCCTGGAGTTTGAAG -3'
(R):5'- GTTTGGAACCACAGCCCTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation