Incidental Mutation 'R2845:Ssh3'
| ID |
251551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh3
|
| Ensembl Gene |
ENSMUSG00000034616 |
| Gene Name |
slingshot protein phosphatase 3 |
| Synonyms |
SSH-3 |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
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 |
|
R2844: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'- AAGGCTGGAAACCCTACCTG -3'
(R):5'- GTACTGTCCTCAGAGGCTTC -3'
Sequencing Primer
(F):5'- AAGTTCCTCCAGGTTGGCAG -3'
(R):5'- TGTCCTCAGAGGCTTCACGATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation