Incidental Mutation 'R7649:Ssh1'
ID |
590687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh1
|
Ensembl Gene |
ENSMUSG00000042121 |
Gene Name |
slingshot protein phosphatase 1 |
Synonyms |
mSSH-1L, LOC384311 |
MMRRC Submission |
045646-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7649 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114088612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 395
(M395K)
|
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: M352K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000076873 Gene: ENSMUSG00000042121 AA Change: M352K
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: M373K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000107917 Gene: ENSMUSG00000042121 AA Change: M373K
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: M395K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000124312 Gene: ENSMUSG00000042121 AA Change: M395K
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (57/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
Ggt1 |
T |
C |
10: 75,421,290 (GRCm39) |
V468A |
possibly damaging |
Het |
Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
Il17rd |
C |
A |
14: 26,761,167 (GRCm39) |
A36E |
probably benign |
Het |
Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
Prr14l |
C |
T |
5: 32,985,589 (GRCm39) |
G1302D |
probably benign |
Het |
Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
Slc4a9 |
A |
G |
18: 36,661,430 (GRCm39) |
Q64R |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
Tnk1 |
T |
C |
11: 69,744,403 (GRCm39) |
|
probably null |
Het |
Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
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 |
|
R7647:Ssh1
|
UTSW |
5 |
114,081,019 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGCACGCATTGGAAAGCTGG -3'
Sequencing Primer
(F):5'- TCACCTTGCATCCAGGATG -3'
(R):5'- GCCAGGCCATGCAGATTCATC -3'
|
Posted On |
2019-10-24 |