Incidental Mutation 'R7647:Ssh1'
| ID |
590585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
045725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114081019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 804
(T804A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159592]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077689
AA Change: T761A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: T761A
| 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: T782A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: T782A
| 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: ENSMUST00000159592
AA Change: T804A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: T804A
| 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 |
|
| Meta Mutation Damage Score |
0.0734 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,564,803 (GRCm39) |
T22K |
possibly damaging |
Het |
| Abca7 |
G |
T |
10: 79,836,656 (GRCm39) |
M344I |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,334 (GRCm39) |
S185P |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,519,006 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Atmin |
T |
G |
8: 117,684,661 (GRCm39) |
F774V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,395,863 (GRCm39) |
D782G |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,363 (GRCm39) |
S79P |
unknown |
Het |
| Cd180 |
A |
T |
13: 102,842,451 (GRCm39) |
E499V |
probably damaging |
Het |
| Cd24a |
C |
T |
10: 43,458,747 (GRCm39) |
H73Y |
unknown |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,056,122 (GRCm39) |
L344S |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,206,162 (GRCm39) |
D1129G |
probably benign |
Het |
| Cyth1 |
C |
A |
11: 118,068,114 (GRCm39) |
V288L |
probably benign |
Het |
| Ddx19a |
A |
T |
8: 111,703,259 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
T |
A |
7: 138,679,689 (GRCm39) |
Y520N |
possibly damaging |
Het |
| Eif4b |
T |
A |
15: 101,997,129 (GRCm39) |
M249K |
unknown |
Het |
| Enam |
G |
A |
5: 88,650,884 (GRCm39) |
D798N |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,470 (GRCm39) |
K428E |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,096,067 (GRCm39) |
V648A |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,308 (GRCm39) |
I62V |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,404,747 (GRCm39) |
S1330T |
probably benign |
Het |
| Mon2 |
G |
T |
10: 122,841,931 (GRCm39) |
P1553Q |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nphs1 |
T |
A |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,447,648 (GRCm39) |
T1924A |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,113 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
T |
11: 58,516,029 (GRCm39) |
V281D |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,893 (GRCm39) |
F256L |
probably benign |
Het |
| Or6c213 |
A |
T |
10: 129,574,070 (GRCm39) |
C239S |
probably damaging |
Het |
| Or6c6 |
T |
C |
10: 129,187,326 (GRCm39) |
V298A |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,329 (GRCm39) |
D718G |
possibly damaging |
Het |
| Pitrm1 |
A |
T |
13: 6,605,444 (GRCm39) |
N158I |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,296 (GRCm39) |
V538M |
|
Het |
| Prkdc |
G |
T |
16: 15,555,807 (GRCm39) |
G2194C |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,152,433 (GRCm39) |
M150T |
possibly damaging |
Het |
| Rint1 |
T |
C |
5: 24,005,800 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,563 (GRCm39) |
K1966R |
probably damaging |
Het |
| Sgcb |
A |
T |
5: 73,796,720 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,619,764 (GRCm39) |
K353E |
possibly damaging |
Het |
| Vipr1 |
T |
C |
9: 121,482,905 (GRCm39) |
L40P |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,002,255 (GRCm39) |
S2P |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,669 (GRCm39) |
S304P |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,924 (GRCm39) |
M664T |
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 |
|
|
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 |
|
|
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'- CTACAGGCTGTTCTTCCGAC -3'
(R):5'- TAGAGCCTTCCAGAGAGACC -3'
Sequencing Primer
(F):5'- AGCTTGGCTGCACAGGG -3'
(R):5'- GAGCCTTCCAGAGAGACCTCAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation