Incidental Mutation 'R2844:Ssh3'
ID |
251475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh3
|
Ensembl Gene |
ENSMUSG00000034616 |
Gene Name |
slingshot protein phosphatase 3 |
Synonyms |
SSH-3 |
MMRRC Submission |
040437-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.433)
|
Stock # |
R2844 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4311696-4319208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4315324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 338
(Y338C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037992]
[ENSMUST00000056888]
[ENSMUST00000113852]
[ENSMUST00000163858]
[ENSMUST00000169192]
|
AlphaFold |
Q8K330 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037992
AA Change: Y334C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047718 Gene: ENSMUSG00000034616 AA Change: Y334C
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: Y338C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109483 Gene: ENSMUSG00000034616 AA Change: Y338C
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: 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 |
0.9499 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (42/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
G |
A |
3: 59,843,830 (GRCm39) |
V175I |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,736,164 (GRCm39) |
I186F |
probably benign |
Het |
Afg3l1 |
T |
C |
8: 124,221,678 (GRCm39) |
|
probably benign |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Ccdc50 |
A |
G |
16: 27,225,479 (GRCm39) |
E64G |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,706,507 (GRCm39) |
G997W |
probably damaging |
Het |
Chd8 |
C |
T |
14: 52,441,952 (GRCm39) |
E2138K |
possibly damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Dnaaf11 |
A |
G |
15: 66,319,525 (GRCm39) |
|
probably benign |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Fzr1 |
G |
T |
10: 81,205,252 (GRCm39) |
T159K |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gna13 |
T |
C |
11: 109,253,951 (GRCm39) |
I51T |
probably damaging |
Het |
Gorab |
A |
G |
1: 163,224,375 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
Ints6 |
A |
G |
14: 62,942,275 (GRCm39) |
V486A |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,779,709 (GRCm39) |
K331R |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Med14 |
A |
T |
X: 12,550,235 (GRCm39) |
H684Q |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
Pde5a |
T |
C |
3: 122,645,357 (GRCm39) |
L755P |
probably damaging |
Het |
Pex14 |
A |
T |
4: 149,047,968 (GRCm39) |
I203N |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,168,657 (GRCm39) |
E691G |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Pnoc |
A |
T |
14: 65,642,284 (GRCm39) |
F160I |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
Ppil6 |
A |
T |
10: 41,377,689 (GRCm39) |
|
probably benign |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
C |
11: 30,795,173 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
T |
C |
19: 27,784,186 (GRCm39) |
|
probably benign |
Het |
Rnase11 |
A |
G |
14: 51,287,227 (GRCm39) |
L109S |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,368,678 (GRCm39) |
T404A |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
G |
16: 35,480,301 (GRCm39) |
N656S |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Thbs1 |
C |
T |
2: 117,948,109 (GRCm39) |
T423I |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,206,419 (GRCm39) |
Y243* |
probably null |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp648 |
A |
T |
1: 154,080,881 (GRCm39) |
K347* |
probably null |
Het |
Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
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 |
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'- TTGGCAGCATTCCACTCAG -3'
(R):5'- AGTCCCAATCCCTGACTTCAG -3'
Sequencing Primer
(F):5'- ACTCAGAGCCCTGTACAGTG -3'
(R):5'- TGTCCTCAGAGGCTTCACGATG -3'
|
Posted On |
2014-12-04 |