Incidental Mutation 'IGL01951:Ssh1'
| ID |
181039 |
| 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 # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114104308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 35
(Y35N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159510]
[ENSMUST00000159592]
[ENSMUST00000162396]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077689
AA Change: Y69N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: Y69N
| 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: Y112N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: Y112N
| 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 benign
Transcript: ENSMUST00000159592
AA Change: Y112N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: Y112N
| 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 |
possibly damaging
Transcript: ENSMUST00000162396
AA Change: Y35N
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation