Incidental Mutation 'R0863:Ssh1'
| ID |
82183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
039037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0863 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114104792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 9
(R9H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159510]
[ENSMUST00000159592]
[ENSMUST00000162396]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077689
AA Change: R43H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: R43H
| 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: R86H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: R86H
| 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: R86H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: R86H
| 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 damaging
Transcript: ENSMUST00000162396
AA Change: R9H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8949 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,327,232 (GRCm39) |
|
noncoding transcript |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,815,453 (GRCm39) |
T234S |
probably benign |
Het |
| Acap1 |
C |
A |
11: 69,777,882 (GRCm39) |
V119L |
probably damaging |
Het |
| Actr2 |
C |
T |
11: 20,030,760 (GRCm39) |
V163I |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,914,792 (GRCm39) |
K524M |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,596 (GRCm39) |
Y846C |
probably benign |
Het |
| Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,737,981 (GRCm39) |
I2621L |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
| Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,482,352 (GRCm39) |
R73G |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,030,634 (GRCm39) |
W552R |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,191,913 (GRCm39) |
V488A |
possibly damaging |
Het |
| Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,173 (GRCm39) |
Q23L |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Lonp1 |
T |
C |
17: 56,925,331 (GRCm39) |
K487R |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,559,381 (GRCm39) |
Y290C |
probably damaging |
Het |
| Ms4a10 |
C |
T |
19: 10,945,957 (GRCm39) |
G58D |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,454 (GRCm39) |
S4315G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,173 (GRCm39) |
T557S |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,676 (GRCm39) |
D946G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,886,241 (GRCm39) |
|
probably benign |
Het |
| Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
| Or10ab5 |
A |
G |
7: 108,244,865 (GRCm39) |
I306T |
probably benign |
Het |
| Or5p50 |
T |
C |
7: 107,422,581 (GRCm39) |
S32G |
probably benign |
Het |
| Or7e173 |
A |
T |
9: 19,938,509 (GRCm39) |
S242T |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,242,061 (GRCm39) |
F1219I |
probably damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
| Plec |
G |
A |
15: 76,058,280 (GRCm39) |
Q3751* |
probably null |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
| Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
| Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
| Sema4a |
C |
T |
3: 88,355,456 (GRCm39) |
|
probably benign |
Het |
| Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
| Spag1 |
G |
T |
15: 36,192,193 (GRCm39) |
K217N |
probably damaging |
Het |
| St3gal4 |
C |
A |
9: 34,964,744 (GRCm39) |
V155F |
probably damaging |
Het |
| Stxbp5 |
C |
T |
10: 9,684,784 (GRCm39) |
E539K |
possibly damaging |
Het |
| Tbc1d7 |
G |
T |
13: 43,308,161 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
| Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
| Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,073,117 (GRCm39) |
I190V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,537,391 (GRCm39) |
T34846A |
probably benign |
Het |
| Ube4a |
A |
G |
9: 44,861,114 (GRCm39) |
V232A |
possibly damaging |
Het |
| Uri1 |
A |
T |
7: 37,669,100 (GRCm39) |
D122E |
probably damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,456,901 (GRCm39) |
E1278D |
unknown |
Het |
| Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACACATCCCAGTGATGCCTC -3'
(R):5'- CACGACTACAGTTTCTGTCTCCACG -3'
Sequencing Primer
(F):5'- CAGTGATGCCTCTACCAAGG -3'
(R):5'- CCAAGGAATGTTTGCTCCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation