Incidental Mutation 'R4436:Ssh3'
ID |
329558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh3
|
Ensembl Gene |
ENSMUSG00000034616 |
Gene Name |
slingshot protein phosphatase 3 |
Synonyms |
SSH-3 |
MMRRC Submission |
041702-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.433)
|
Stock # |
R4436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4311696-4319208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4315394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 315
(F315L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037992]
[ENSMUST00000056888]
[ENSMUST00000113852]
[ENSMUST00000163858]
[ENSMUST00000169192]
|
AlphaFold |
Q8K330 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037992
AA Change: F311L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047718 Gene: ENSMUSG00000034616 AA Change: F311L
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: F315L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109483 Gene: ENSMUSG00000034616 AA Change: F315L
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 |
0.4027 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
96% (54/56) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
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'- TTGGCAGCATTCCACTCAGAG -3'
(R):5'- TAAGCCAGTCCCAATCCCTG -3'
Sequencing Primer
(F):5'- ACTCAGAGCCCTGTACAGTG -3'
(R):5'- AATCCCTGACTTCAGTTCTGTGTAG -3'
|
Posted On |
2015-07-21 |