Incidental Mutation 'R5014:Ssh2'
| ID |
385443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
042605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R5014 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 77346102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1362
(C1362*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037912
AA Change: C1356*
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: C1356*
| 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 null
Transcript: ENSMUST00000181283
AA Change: C1362*
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: C1362*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.7%
|
| Validation Efficiency |
97% (83/86) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,896 (GRCm39) |
T1353A |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,840,957 (GRCm39) |
I1072N |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,438 (GRCm39) |
T517A |
probably benign |
Het |
| Blk |
T |
G |
14: 63,617,236 (GRCm39) |
N257T |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,417,372 (GRCm39) |
|
probably benign |
Het |
| Calr4 |
C |
T |
4: 109,092,994 (GRCm39) |
Q25* |
probably null |
Het |
| Cbl |
T |
C |
9: 44,065,696 (GRCm39) |
|
probably null |
Het |
| Ccdc30 |
T |
G |
4: 119,250,824 (GRCm39) |
H6P |
possibly damaging |
Het |
| Cd101 |
A |
C |
3: 100,911,139 (GRCm39) |
Y840D |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,556,165 (GRCm39) |
N178Y |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,952 (GRCm39) |
T1044A |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,207,291 (GRCm39) |
V1876A |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,925,765 (GRCm39) |
M58K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,793 (GRCm39) |
E860G |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,794 (GRCm39) |
|
probably null |
Het |
| Cul7 |
A |
G |
17: 46,966,868 (GRCm39) |
*650W |
probably null |
Het |
| Dkk4 |
C |
T |
8: 23,115,315 (GRCm39) |
A55V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,128,992 (GRCm39) |
E407G |
probably damaging |
Het |
| Dnase1 |
C |
A |
16: 3,856,880 (GRCm39) |
Y170* |
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,823,550 (GRCm39) |
I1019S |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,486,942 (GRCm39) |
H1035L |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,177,776 (GRCm39) |
T408A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,998,414 (GRCm39) |
E305G |
probably damaging |
Het |
| Garin1b |
C |
T |
6: 29,326,723 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,389,821 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10010 |
C |
T |
6: 128,177,556 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
T |
C |
1: 21,363,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,193,506 (GRCm39) |
V349G |
probably benign |
Het |
| Gtsf1l |
C |
T |
2: 162,929,112 (GRCm39) |
V124I |
probably damaging |
Het |
| Gucy1b1 |
C |
G |
3: 81,953,974 (GRCm39) |
G114A |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,720,936 (GRCm39) |
Q166R |
possibly damaging |
Het |
| Hook2 |
A |
G |
8: 85,718,006 (GRCm39) |
I44M |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,541,921 (GRCm39) |
M222K |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,997,640 (GRCm39) |
F55Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,388 (GRCm39) |
N314S |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,746,748 (GRCm39) |
F748L |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,826,407 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
A |
T |
17: 88,025,004 (GRCm39) |
K627N |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,251,534 (GRCm39) |
Q219R |
probably damaging |
Het |
| Ndufb3 |
T |
A |
1: 58,630,401 (GRCm39) |
W51R |
probably damaging |
Het |
| Nfasc |
A |
T |
1: 132,512,185 (GRCm39) |
|
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,912 (GRCm39) |
I25N |
probably benign |
Het |
| Or2h2 |
T |
A |
17: 37,396,446 (GRCm39) |
I204F |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,857 (GRCm39) |
V222A |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,832,199 (GRCm39) |
E229V |
probably damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,701,224 (GRCm39) |
L837* |
probably null |
Het |
| Ppp2r1a |
G |
A |
17: 21,179,101 (GRCm39) |
|
probably null |
Het |
| Rabgap1 |
T |
A |
2: 37,377,152 (GRCm39) |
V328E |
probably damaging |
Het |
| Ralgapb |
G |
A |
2: 158,337,455 (GRCm39) |
R1138Q |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,299,942 (GRCm39) |
Q498L |
probably benign |
Het |
| Rbx1 |
T |
A |
15: 81,355,161 (GRCm39) |
C56S |
probably damaging |
Het |
| Rcan2 |
T |
C |
17: 44,328,704 (GRCm39) |
F45S |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,980,770 (GRCm39) |
Y185C |
probably damaging |
Het |
| Rorc |
T |
G |
3: 94,298,460 (GRCm39) |
L315R |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,401 (GRCm39) |
V194A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,290,987 (GRCm39) |
K406E |
possibly damaging |
Het |
| Slc35g3 |
T |
A |
11: 69,651,866 (GRCm39) |
K62* |
probably null |
Het |
| Sox30 |
T |
C |
11: 45,882,736 (GRCm39) |
S589P |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,284,538 (GRCm39) |
C849Y |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,384,043 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
C |
T |
9: 21,027,126 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
C |
A |
1: 57,446,004 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,822,897 (GRCm39) |
C1401S |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,340 (GRCm39) |
N391D |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,061,523 (GRCm39) |
E475K |
unknown |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,142,594 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp990 |
T |
A |
4: 145,264,669 (GRCm39) |
C556S |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,951,892 (GRCm39) |
P189L |
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 |
|
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 |
|
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'- ACAGACTCAGGCATGCATG -3'
(R):5'- TGTGGGCTCAGGATCACATG -3'
Sequencing Primer
(F):5'- AGCCCACCAAGTATTCTG -3'
(R):5'- CTCAGGATCACATGGTGTTATAGAAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation