Incidental Mutation 'IGL02391:Ssh1'
| ID |
293866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114080578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 951
(E951K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159592]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077689
AA Change: E908K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: E908K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEK_C
|
208 |
261 |
1.1e-19 |
PFAM |
|
DSPc
|
265 |
403 |
7.82e-47 |
SMART |
|
low complexity region
|
490 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
892 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112298
AA Change: E929K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: E929K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
229 |
282 |
9.5e-20 |
PFAM |
|
DSPc
|
286 |
424 |
7.82e-47 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159592
AA Change: E951K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: E951K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
252 |
303 |
2.3e-17 |
PFAM |
|
DSPc
|
308 |
446 |
7.82e-47 |
SMART |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
935 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
| Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,747,785 (GRCm39) |
S74P |
probably benign |
Het |
| Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
| Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
| Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
| Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,783,871 (GRCm39) |
L46P |
probably damaging |
Het |
| Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,675,428 (GRCm39) |
N129S |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
| Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
| Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
| Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
| Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,146,717 (GRCm39) |
S362T |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
| Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
| Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
| Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
| Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
probably damaging |
Het |
|
| Other mutations in Ssh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Ssh1
|
APN |
5 |
114,080,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Ssh1
|
APN |
5 |
114,096,883 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01933:Ssh1
|
APN |
5 |
114,088,441 (GRCm39) |
splice site |
probably benign |
|
|
IGL01951:Ssh1
|
APN |
5 |
114,104,308 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02117:Ssh1
|
APN |
5 |
114,084,541 (GRCm39) |
nonsense |
probably null |
|
|
R0110:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0510:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0682:Ssh1
|
UTSW |
5 |
114,098,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Ssh1
|
UTSW |
5 |
114,104,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Ssh1
|
UTSW |
5 |
114,108,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Ssh1
|
UTSW |
5 |
114,090,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Ssh1
|
UTSW |
5 |
114,090,081 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1754:Ssh1
|
UTSW |
5 |
114,093,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1867:Ssh1
|
UTSW |
5 |
114,081,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Ssh1
|
UTSW |
5 |
114,080,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2262:Ssh1
|
UTSW |
5 |
114,080,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2497:Ssh1
|
UTSW |
5 |
114,096,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Ssh1
|
UTSW |
5 |
114,104,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Ssh1
|
UTSW |
5 |
114,080,769 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5120:Ssh1
|
UTSW |
5 |
114,095,459 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5283:Ssh1
|
UTSW |
5 |
114,088,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Ssh1
|
UTSW |
5 |
114,084,627 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5877:Ssh1
|
UTSW |
5 |
114,081,181 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6140:Ssh1
|
UTSW |
5 |
114,080,692 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6360:Ssh1
|
UTSW |
5 |
114,099,408 (GRCm39) |
splice site |
probably null |
|
|
R6612:Ssh1
|
UTSW |
5 |
114,096,791 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6819:Ssh1
|
UTSW |
5 |
114,084,851 (GRCm39) |
missense |
probably benign |
|
|
R6855:Ssh1
|
UTSW |
5 |
114,080,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Ssh1
|
UTSW |
5 |
114,096,892 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7470:Ssh1
|
UTSW |
5 |
114,080,488 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7568:Ssh1
|
UTSW |
5 |
114,095,441 (GRCm39) |
splice site |
probably null |
|
|
R7647:Ssh1
|
UTSW |
5 |
114,081,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Ssh1
|
UTSW |
5 |
114,088,612 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7754:Ssh1
|
UTSW |
5 |
114,104,295 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7887:Ssh1
|
UTSW |
5 |
114,099,410 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8167:Ssh1
|
UTSW |
5 |
114,090,051 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8289:Ssh1
|
UTSW |
5 |
114,080,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ssh1
|
UTSW |
5 |
114,104,355 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation