Incidental Mutation 'R1889:Ssh2'
| ID |
209843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
039910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R1889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 77340571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 574
(D574E)
|
| 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: D568E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: D568E
| 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: D574E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: D574E
| 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 |
0.0731 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.6%
- 20x: 88.0%
|
| Validation Efficiency |
97% (103/106) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
A |
G |
9: 89,034,815 (GRCm39) |
|
noncoding transcript |
Het |
| 9130008F23Rik |
T |
C |
17: 41,191,193 (GRCm39) |
R79G |
probably damaging |
Het |
| Aco1 |
A |
T |
4: 40,164,607 (GRCm39) |
|
probably null |
Het |
| Acp6 |
C |
T |
3: 97,073,201 (GRCm39) |
R81W |
probably damaging |
Het |
| Agbl1 |
A |
C |
7: 76,239,129 (GRCm39) |
Y543S |
probably damaging |
Het |
| Anapc7 |
T |
C |
5: 122,571,539 (GRCm39) |
W205R |
probably damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,338,886 (GRCm39) |
M532L |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,647,470 (GRCm39) |
|
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,624 (GRCm39) |
F462S |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,886 (GRCm39) |
|
probably null |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cadm2 |
T |
C |
16: 66,679,683 (GRCm39) |
D50G |
probably damaging |
Het |
| Ccdc81 |
G |
A |
7: 89,531,502 (GRCm39) |
Q324* |
probably null |
Het |
| Cd300lf |
A |
G |
11: 115,011,206 (GRCm39) |
V178A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,791 (GRCm39) |
V476A |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,796,182 (GRCm39) |
V225A |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,870,572 (GRCm39) |
S684P |
possibly damaging |
Het |
| Clip1 |
C |
A |
5: 123,791,559 (GRCm39) |
V204F |
probably damaging |
Het |
| Cnpy4 |
A |
G |
5: 138,191,102 (GRCm39) |
E226G |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,486,356 (GRCm39) |
M335V |
probably benign |
Het |
| Dnmt3b |
C |
A |
2: 153,518,679 (GRCm39) |
A614E |
probably benign |
Het |
| Dpm1 |
C |
T |
2: 168,059,655 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Engase |
T |
C |
11: 118,369,759 (GRCm39) |
F57S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gkn2 |
T |
A |
6: 87,355,137 (GRCm39) |
Y115* |
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,481,926 (GRCm39) |
S246P |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,839,561 (GRCm39) |
S3357L |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,060 (GRCm39) |
Y840* |
probably null |
Het |
| Hoxa10 |
GGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTG |
6: 52,211,472 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
T |
C |
6: 115,871,382 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
A |
T |
10: 77,384,457 (GRCm39) |
N193Y |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,730,839 (GRCm39) |
I65S |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Kcnt2 |
A |
T |
1: 140,512,031 (GRCm39) |
H995L |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,918,608 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,360,211 (GRCm39) |
Y342C |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,877 (GRCm39) |
V529A |
possibly damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,383 (GRCm39) |
D475G |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,567 (GRCm39) |
Y384H |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,809,179 (GRCm39) |
C2463* |
probably null |
Het |
| Marchf6 |
T |
C |
15: 31,459,339 (GRCm39) |
E909G |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,488 (GRCm39) |
|
probably null |
Het |
| Mtrex |
T |
C |
13: 113,024,024 (GRCm39) |
N707S |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,041,560 (GRCm39) |
I212F |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,009 (GRCm39) |
E1531G |
possibly damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Opa1 |
T |
C |
16: 29,444,403 (GRCm39) |
V863A |
possibly damaging |
Het |
| Or5ac22 |
T |
G |
16: 59,135,326 (GRCm39) |
Y148S |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,798 (GRCm39) |
M282K |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,722,684 (GRCm39) |
D1336G |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,246,580 (GRCm39) |
V590A |
possibly damaging |
Het |
| Rbck1 |
T |
A |
2: 152,160,276 (GRCm39) |
T468S |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,877,870 (GRCm39) |
I290N |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,346 (GRCm39) |
L457P |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,351,184 (GRCm39) |
A342S |
possibly damaging |
Het |
| Sema3d |
A |
G |
5: 12,534,988 (GRCm39) |
|
probably null |
Het |
| Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,668 (GRCm39) |
V148A |
probably damaging |
Het |
| Shank2 |
C |
A |
7: 143,740,595 (GRCm39) |
S568* |
probably null |
Het |
| Slc10a4 |
T |
C |
5: 73,169,490 (GRCm39) |
S372P |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,550 (GRCm39) |
T37A |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Slc6a20b |
G |
T |
9: 123,461,269 (GRCm39) |
D52E |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,601,182 (GRCm39) |
M661T |
probably benign |
Het |
| Steap4 |
G |
T |
5: 8,025,892 (GRCm39) |
R151L |
probably damaging |
Het |
| Sun5 |
T |
A |
2: 153,707,915 (GRCm39) |
I107L |
probably benign |
Het |
| Tacc1 |
C |
T |
8: 25,665,269 (GRCm39) |
V488M |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,614,928 (GRCm39) |
T829A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,914,799 (GRCm39) |
E1929G |
probably damaging |
Het |
| Tssc4 |
A |
C |
7: 142,624,292 (GRCm39) |
Q200P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,588,876 (GRCm39) |
W21398R |
probably damaging |
Het |
| Usp50 |
C |
T |
2: 126,619,818 (GRCm39) |
|
probably null |
Het |
| Usp9y |
A |
T |
Y: 1,448,829 (GRCm39) |
|
probably null |
Het |
| V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
| Zfat |
T |
C |
15: 67,973,388 (GRCm39) |
T1118A |
probably benign |
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 |
|
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'- TGGTCCCACAAGATGCAAATCAG -3'
(R):5'- ATCTGAGATGGCAGCTTGGC -3'
Sequencing Primer
(F):5'- GTCCCACAAGATGCAAATCAGAAAGG -3'
(R):5'- TGACTCCAGATCAGGTGACATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation