Incidental Mutation 'R5283:Ssh1'
| ID |
402868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
042868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5283 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114088606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159592]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077689
AA Change: V354A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: V354A
| 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 benign
Transcript: ENSMUST00000112298
AA Change: V375A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: V375A
| 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: V397A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: V397A
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
T |
1: 74,323,165 (GRCm39) |
E53K |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,469,780 (GRCm39) |
E651G |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,610,921 (GRCm39) |
V2655G |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,757,683 (GRCm39) |
V434M |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,306,611 (GRCm39) |
Y150C |
probably damaging |
Het |
| Ccdc13 |
T |
A |
9: 121,637,254 (GRCm39) |
D75V |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crh |
T |
C |
3: 19,748,171 (GRCm39) |
H157R |
probably damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,142,205 (GRCm39) |
D57G |
probably damaging |
Het |
| Dpp4 |
G |
A |
2: 62,190,680 (GRCm39) |
T392I |
probably damaging |
Het |
| Ehd3 |
G |
T |
17: 74,127,498 (GRCm39) |
A144S |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,373,015 (GRCm39) |
I1021N |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,584,719 (GRCm39) |
|
probably benign |
Het |
| Glo1 |
T |
C |
17: 30,819,047 (GRCm39) |
T92A |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15130 |
A |
C |
2: 110,965,754 (GRCm39) |
M165R |
unknown |
Het |
| Gon4l |
T |
C |
3: 88,794,897 (GRCm39) |
L700P |
probably damaging |
Het |
| Grm1 |
C |
A |
10: 10,608,936 (GRCm39) |
D566Y |
possibly damaging |
Het |
| Guca1b |
T |
C |
17: 47,702,195 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,747 (GRCm39) |
M70V |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,178,612 (GRCm39) |
C1069F |
possibly damaging |
Het |
| Ints1 |
A |
C |
5: 139,750,137 (GRCm39) |
L920R |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,381,297 (GRCm39) |
I54V |
probably benign |
Het |
| Kpna2 |
G |
A |
11: 106,881,658 (GRCm39) |
T324I |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,221,428 (GRCm39) |
L190S |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,594,461 (GRCm39) |
H16Q |
probably benign |
Het |
| Mab21l4 |
C |
T |
1: 93,087,575 (GRCm39) |
D93N |
probably benign |
Het |
| Mapkap1 |
A |
G |
2: 34,334,360 (GRCm39) |
E147G |
probably damaging |
Het |
| Mrpl2 |
C |
T |
17: 46,959,992 (GRCm39) |
R219W |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,224 (GRCm39) |
|
probably benign |
Het |
| Ndc80 |
A |
G |
17: 71,828,130 (GRCm39) |
S66P |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,358,638 (GRCm39) |
Y1398H |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,758 (GRCm39) |
R539* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,955 (GRCm39) |
T63S |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,906,654 (GRCm39) |
V524I |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,777 (GRCm39) |
M283L |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,577,606 (GRCm39) |
P298S |
unknown |
Het |
| Rap1gap2 |
G |
A |
11: 74,286,651 (GRCm39) |
R550C |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,216,161 (GRCm39) |
T1008I |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,703,615 (GRCm39) |
K103E |
probably damaging |
Het |
| Rmnd5b |
A |
T |
11: 51,517,887 (GRCm39) |
F156I |
probably damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,778,461 (GRCm39) |
I68T |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,412 (GRCm39) |
I442V |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,677,326 (GRCm39) |
|
probably null |
Het |
| Slc35b1 |
G |
T |
11: 95,275,814 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,935,334 (GRCm39) |
K153E |
possibly damaging |
Het |
| Stk4 |
C |
T |
2: 163,952,199 (GRCm39) |
R19* |
probably null |
Het |
| Tas2r136 |
A |
T |
6: 132,754,374 (GRCm39) |
I251N |
probably damaging |
Het |
| Tbr1 |
A |
T |
2: 61,635,244 (GRCm39) |
T65S |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,282,575 (GRCm39) |
S124F |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,555,000 (GRCm39) |
I228V |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,644 (GRCm39) |
I82V |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,800,899 (GRCm39) |
Q511R |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,981 (GRCm39) |
M661T |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,334 (GRCm39) |
K1898I |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCTAGGTGCTCTCTCAC -3'
(R):5'- GAGATTCTGGGTTTCCTGCAGC -3'
Sequencing Primer
(F):5'- TCACCTTGCATCCAGGATG -3'
(R):5'- GCCAGGCCATGCAGATTCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation