Incidental Mutation 'R0939:Ssh1'
| ID |
81295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
039078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0939 (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 114108497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 50
(L50P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159510]
[ENSMUST00000159592]
[ENSMUST00000162396]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077689
AA Change: L7P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: L7P
| 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: L50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: L50P
| 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 benign
Transcript: ENSMUST00000159510
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159592
AA Change: L50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: L50P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162396
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,438,801 (GRCm39) |
D326G |
probably null |
Het |
| Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
| Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
| Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
| Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Or10a3b |
T |
A |
7: 108,444,440 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
| Prss1 |
A |
C |
6: 41,440,522 (GRCm39) |
D199A |
probably damaging |
Het |
| Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
| Slfn5 |
G |
T |
11: 82,852,164 (GRCm39) |
M763I |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,663 (GRCm39) |
D26V |
possibly damaging |
Het |
| Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCATTATGAACCCGCAATGCACC -3'
(R):5'- CTGTGTTCCACCAAGAGCCTTGTC -3'
Sequencing Primer
(F):5'- AATGCACCACTTCCCTGG -3'
(R):5'- GCATCTTAAGTTCCTAAGCACTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation