Incidental Mutation 'IGL00235:Ssh1'
| ID |
2400 |
| 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 # |
IGL00235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114080637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 931
(D931G)
|
| 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: D888G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: D888G
| 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: D909G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: D909G
| 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: D931G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: D931G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
| Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
| Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
| Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
| Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
| Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
| Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
| Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
| Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
| Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
| Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
| Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
| Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
| Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
| Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
| Other mutations in Ssh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02391:Ssh1
|
APN |
5 |
114,080,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2011-12-09 |
Incidental Mutation