Incidental Mutation 'R8959:Ssh3'
| ID |
682239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh3
|
| Ensembl Gene |
ENSMUSG00000034616 |
| Gene Name |
slingshot protein phosphatase 3 |
| Synonyms |
SSH-3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R8959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4311696-4319208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4318590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 30
(R30S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037992]
[ENSMUST00000056888]
[ENSMUST00000113852]
[ENSMUST00000163858]
[ENSMUST00000166031]
[ENSMUST00000169192]
|
| AlphaFold |
Q8K330 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037992
AA Change: R30S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616
AA Change: R30S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
268 |
321 |
3.3e-18 |
PFAM |
|
DSPc
|
325 |
463 |
7.25e-42 |
SMART |
|
low complexity region
|
488 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056888
|
| SMART Domains |
Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
ANK
|
72 |
101 |
9.75e1 |
SMART |
|
Pfam:GPCR_chapero_1
|
155 |
469 |
1.2e-111 |
PFAM |
|
UIM
|
482 |
501 |
3.2e-2 |
SMART |
|
UIM
|
528 |
547 |
1.92e2 |
SMART |
|
UIM
|
564 |
583 |
8.18e0 |
SMART |
|
UIM
|
589 |
605 |
6e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113852
AA Change: R30S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616
AA Change: R30S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
273 |
324 |
1.1e-15 |
PFAM |
|
DSPc
|
329 |
467 |
7.25e-42 |
SMART |
|
low complexity region
|
492 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163858
|
| SMART Domains |
Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166031
|
| SMART Domains |
Protein: ENSMUSP00000130505
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169192
|
| SMART Domains |
Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
1 |
28 |
5e-11 |
BLAST |
|
Pfam:GPCR_chapero_1
|
82 |
121 |
6.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170283
|
| SMART Domains |
Protein: ENSMUSP00000126349
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPCR_chapero_1
|
1 |
98 |
9.3e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,399 (GRCm39) |
T51K |
possibly damaging |
Het |
| Angel2 |
C |
T |
1: 190,665,332 (GRCm39) |
R88C |
probably damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,367,452 (GRCm39) |
R181C |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,142 (GRCm39) |
C238R |
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,354,013 (GRCm39) |
R33Q |
probably damaging |
Het |
| Ccdc106 |
T |
A |
7: 5,060,500 (GRCm39) |
L20Q |
probably benign |
Het |
| Ccdc117 |
A |
T |
11: 5,491,421 (GRCm39) |
V62D |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,441,096 (GRCm39) |
|
probably benign |
Het |
| Cfap95 |
T |
C |
19: 23,536,385 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cmip |
G |
A |
8: 118,138,054 (GRCm39) |
V178I |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,558,096 (GRCm39) |
E436G |
probably damaging |
Het |
| Dcaf11 |
A |
G |
14: 55,806,761 (GRCm39) |
N488S |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 90,501,927 (GRCm39) |
K80* |
probably null |
Het |
| Dnase1l2 |
T |
A |
17: 24,661,642 (GRCm39) |
D39V |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,113,090 (GRCm39) |
L278Q |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,303,774 (GRCm39) |
Q388P |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,136,936 (GRCm39) |
Y329C |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,282,159 (GRCm39) |
P1924S |
probably damaging |
Het |
| Iba57 |
A |
G |
11: 59,052,461 (GRCm39) |
V122A |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,624,702 (GRCm39) |
M66K |
probably damaging |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,676,342 (GRCm39) |
R36Q |
probably damaging |
Het |
| Myh1 |
C |
A |
11: 67,102,328 (GRCm39) |
A873E |
probably benign |
Het |
| Nedd9 |
G |
T |
13: 41,469,758 (GRCm39) |
A465D |
probably damaging |
Het |
| Nr2f1 |
G |
T |
13: 78,337,873 (GRCm39) |
Y257* |
probably null |
Het |
| Omd |
A |
G |
13: 49,745,790 (GRCm39) |
E400G |
possibly damaging |
Het |
| Or5j1 |
T |
A |
2: 86,879,551 (GRCm39) |
T10S |
possibly damaging |
Het |
| Or6c202 |
A |
G |
10: 128,996,484 (GRCm39) |
I123T |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,480,212 (GRCm39) |
S1306P |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,599 (GRCm39) |
K228E |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,365,392 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,605,444 (GRCm39) |
E410G |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,650 (GRCm39) |
|
probably benign |
Het |
| Runx3 |
C |
T |
4: 134,902,968 (GRCm39) |
S366L |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taf6l |
A |
G |
19: 8,750,690 (GRCm39) |
F128S |
possibly damaging |
Het |
| Tmc6 |
A |
C |
11: 117,661,293 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
G |
3: 36,709,258 (GRCm39) |
Q406P |
probably benign |
Het |
| Uncx |
C |
A |
5: 139,529,826 (GRCm39) |
Y26* |
probably null |
Het |
| Urb1 |
T |
C |
16: 90,571,005 (GRCm39) |
D1268G |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,931,957 (GRCm39) |
C294R |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,382,380 (GRCm39) |
R477G |
probably damaging |
Het |
|
| Other mutations in Ssh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02455:Ssh3
|
APN |
19 |
4,314,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Ssh3
|
UTSW |
19 |
4,313,727 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0727:Ssh3
|
UTSW |
19 |
4,314,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Ssh3
|
UTSW |
19 |
4,316,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Ssh3
|
UTSW |
19 |
4,319,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Ssh3
|
UTSW |
19 |
4,319,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Ssh3
|
UTSW |
19 |
4,315,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Ssh3
|
UTSW |
19 |
4,315,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Ssh3
|
UTSW |
19 |
4,315,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3083:Ssh3
|
UTSW |
19 |
4,312,587 (GRCm39) |
missense |
probably benign |
|
|
R4436:Ssh3
|
UTSW |
19 |
4,315,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ssh3
|
UTSW |
19 |
4,315,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Ssh3
|
UTSW |
19 |
4,316,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6392:Ssh3
|
UTSW |
19 |
4,315,399 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6611:Ssh3
|
UTSW |
19 |
4,314,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Ssh3
|
UTSW |
19 |
4,314,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Ssh3
|
UTSW |
19 |
4,313,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8821:Ssh3
|
UTSW |
19 |
4,319,053 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8831:Ssh3
|
UTSW |
19 |
4,319,053 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8852:Ssh3
|
UTSW |
19 |
4,317,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8860:Ssh3
|
UTSW |
19 |
4,317,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9130:Ssh3
|
UTSW |
19 |
4,314,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Ssh3
|
UTSW |
19 |
4,312,437 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9718:Ssh3
|
UTSW |
19 |
4,312,437 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0025:Ssh3
|
UTSW |
19 |
4,315,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0028:Ssh3
|
UTSW |
19 |
4,316,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCTTCCACAAGCCAGAG -3'
(R):5'- CACTGCTGTACCTGGACTTAG -3'
Sequencing Primer
(F):5'- GTTCTTCCACAAGCCAGAGATGTG -3'
(R):5'- TGTACCTGGACTTAGGCCGG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation