Incidental Mutation 'R1079:Ssh3'
ID |
85806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh3
|
Ensembl Gene |
ENSMUSG00000034616 |
Gene Name |
slingshot protein phosphatase 3 |
Synonyms |
SSH-3 |
MMRRC Submission |
039165-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.433)
|
Stock # |
R1079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4311696-4319208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 4316577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 143
(L143R)
|
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: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047718 Gene: ENSMUSG00000034616 AA Change: L143R
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: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109483 Gene: ENSMUSG00000034616 AA Change: L143R
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 |
noncoding transcript
Transcript: ENSMUST00000184641
|
Meta Mutation Damage Score |
0.2946 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
Cnot6 |
G |
T |
11: 49,575,930 (GRCm39) |
D176E |
probably benign |
Het |
Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
Fndc3a |
A |
T |
14: 72,827,247 (GRCm39) |
M146K |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,302,043 (GRCm39) |
F50L |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
Rad17 |
G |
T |
13: 100,770,407 (GRCm39) |
D213E |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,767,794 (GRCm39) |
I812V |
possibly 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 |
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 |
R8959:Ssh3
|
UTSW |
19 |
4,318,590 (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'- TAAGAAAGTAGGTCCCAGCACCGC -3'
(R):5'- GCTGTCAAGATGTGAGCTGTGTCC -3'
Sequencing Primer
(F):5'- ACCGCCCCACTGTTCAATG -3'
(R):5'- CATGTGGAGTGAAGAAACAGATCC -3'
|
Posted On |
2013-11-18 |