Incidental Mutation 'R7255:Ssh2'
ID |
564218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssh2
|
Ensembl Gene |
ENSMUSG00000037926 |
Gene Name |
slingshot protein phosphatase 2 |
Synonyms |
SSH-2 |
MMRRC Submission |
045316-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R7255 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77316419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 304
(M304K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
AlphaFold |
Q5SW75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037912
AA Change: M298K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042625 Gene: ENSMUSG00000037926 AA Change: M298K
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
Pfam:DEK_C
|
251 |
302 |
3.1e-13 |
PFAM |
DSPc
|
307 |
445 |
2.2e-41 |
SMART |
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
low complexity region
|
871 |
882 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000181283
AA Change: M304K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137933 Gene: ENSMUSG00000037926 AA Change: M304K
Domain | Start | End | E-Value | Type |
Pfam:DEK_C
|
256 |
309 |
1.7e-18 |
PFAM |
DSPc
|
313 |
451 |
2.2e-41 |
SMART |
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
low complexity region
|
1008 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1376 |
1391 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9398 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (66/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
A |
G |
19: 20,692,092 (GRCm39) |
S234P |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,159,999 (GRCm39) |
H650R |
probably damaging |
Het |
Asic1 |
A |
G |
15: 99,595,338 (GRCm39) |
D355G |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,689,939 (GRCm39) |
S598C |
probably damaging |
Het |
Bcat1 |
C |
A |
6: 144,978,511 (GRCm39) |
E237* |
probably null |
Het |
Btbd16 |
A |
T |
7: 130,387,722 (GRCm39) |
I114F |
probably benign |
Het |
Casp2 |
A |
G |
6: 42,245,841 (GRCm39) |
D166G |
probably damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
G |
A |
15: 76,481,743 (GRCm39) |
T1099M |
probably damaging |
Het |
Crisp4 |
C |
A |
1: 18,200,455 (GRCm39) |
A116S |
probably damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,366 (GRCm39) |
I168T |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,107,508 (GRCm39) |
D1407N |
probably benign |
Het |
Dnajc8 |
A |
G |
4: 132,278,884 (GRCm39) |
K201R |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,520,816 (GRCm39) |
|
probably null |
Het |
Dop1b |
C |
A |
16: 93,567,034 (GRCm39) |
H1272N |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,230,330 (GRCm39) |
R325Q |
probably benign |
Het |
Enpp1 |
A |
T |
10: 24,521,213 (GRCm39) |
I838K |
possibly damaging |
Het |
Fcna |
T |
G |
2: 25,516,040 (GRCm39) |
D159A |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,445,765 (GRCm39) |
G840C |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,517,216 (GRCm39) |
A1024T |
probably damaging |
Het |
Galc |
T |
C |
12: 98,212,514 (GRCm39) |
K207R |
probably null |
Het |
Gbp2b |
T |
A |
3: 142,313,878 (GRCm39) |
L386Q |
probably damaging |
Het |
Gm8297 |
T |
A |
14: 16,165,868 (GRCm39) |
N48K |
probably damaging |
Het |
Gm9639 |
G |
A |
10: 77,630,372 (GRCm39) |
P180L |
unknown |
Het |
Inpp5a |
A |
G |
7: 139,091,364 (GRCm39) |
N116S |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,313,726 (GRCm39) |
E984G |
probably benign |
Het |
Klra4 |
A |
G |
6: 130,036,605 (GRCm39) |
F145L |
probably damaging |
Het |
Lag3 |
A |
G |
6: 124,887,198 (GRCm39) |
L123P |
probably benign |
Het |
Lyz3 |
T |
C |
10: 117,070,327 (GRCm39) |
H150R |
probably benign |
Het |
Med7 |
T |
A |
11: 46,331,822 (GRCm39) |
M139K |
probably damaging |
Het |
Mfsd2a |
A |
C |
4: 122,845,814 (GRCm39) |
L153R |
possibly damaging |
Het |
Mup9 |
A |
G |
4: 60,377,336 (GRCm39) |
V71A |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,549,169 (GRCm39) |
Q927L |
unknown |
Het |
Myo9b |
T |
C |
8: 71,743,535 (GRCm39) |
Y199H |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,353,449 (GRCm39) |
F406L |
probably benign |
Het |
Or10ag2 |
T |
A |
2: 87,249,286 (GRCm39) |
L296Q |
probably damaging |
Het |
Or10ak11 |
A |
T |
4: 118,687,149 (GRCm39) |
F162I |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,441,929 (GRCm39) |
F173L |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,720,132 (GRCm39) |
D1205E |
probably benign |
Het |
Plxna2 |
T |
G |
1: 194,434,411 (GRCm39) |
F646V |
probably benign |
Het |
Pnrc1 |
C |
T |
4: 33,248,045 (GRCm39) |
G118D |
probably benign |
Het |
Ppp1r16b |
T |
C |
2: 158,603,311 (GRCm39) |
F412S |
probably benign |
Het |
Prcc |
A |
T |
3: 87,777,398 (GRCm39) |
V192E |
probably damaging |
Het |
Psg19 |
A |
G |
7: 18,527,973 (GRCm39) |
Y257H |
probably benign |
Het |
Rfx7 |
T |
G |
9: 72,527,110 (GRCm39) |
S1433R |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Sanbr |
G |
A |
11: 23,570,465 (GRCm39) |
P145L |
probably benign |
Het |
Sbspon |
G |
T |
1: 15,954,021 (GRCm39) |
C86* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,704,729 (GRCm39) |
E230G |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,432,336 (GRCm39) |
T581A |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,173 (GRCm39) |
T594K |
possibly damaging |
Het |
Shpk |
A |
G |
11: 73,090,486 (GRCm39) |
S48G |
probably benign |
Het |
Slc1a3 |
A |
G |
15: 8,672,483 (GRCm39) |
V332A |
possibly damaging |
Het |
Slc25a25 |
T |
C |
2: 32,311,384 (GRCm39) |
E135G |
possibly damaging |
Het |
Slc5a8 |
A |
T |
10: 88,745,493 (GRCm39) |
D367V |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,515,051 (GRCm39) |
T649A |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats1 |
T |
A |
17: 45,765,131 (GRCm39) |
D163V |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,929,232 (GRCm39) |
D166E |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
Tcf7l1 |
A |
T |
6: 72,604,330 (GRCm39) |
|
probably null |
Het |
Tet1 |
A |
T |
10: 62,658,415 (GRCm39) |
M1477K |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,881 (GRCm39) |
F395S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,795,764 (GRCm39) |
L3847P |
probably damaging |
Het |
Tsks |
C |
T |
7: 44,602,112 (GRCm39) |
S276L |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,185,187 (GRCm39) |
E1519G |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,631,703 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
G |
14: 32,696,239 (GRCm39) |
V2768A |
|
Het |
Wdr26 |
A |
C |
1: 181,008,889 (GRCm39) |
I627R |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,245,749 (GRCm39) |
S100T |
probably benign |
Het |
|
Other mutations in Ssh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00811:Ssh2
|
APN |
11 |
77,332,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01141:Ssh2
|
APN |
11 |
77,340,552 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Ssh2
|
APN |
11 |
77,340,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01803:Ssh2
|
APN |
11 |
77,316,156 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01989:Ssh2
|
APN |
11 |
77,344,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02322:Ssh2
|
APN |
11 |
77,307,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02466:Ssh2
|
APN |
11 |
77,307,233 (GRCm39) |
splice site |
probably benign |
|
IGL02683:Ssh2
|
APN |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02706:Ssh2
|
APN |
11 |
77,344,232 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02719:Ssh2
|
APN |
11 |
77,316,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02721:Ssh2
|
APN |
11 |
77,345,551 (GRCm39) |
nonsense |
probably null |
|
IGL02732:Ssh2
|
APN |
11 |
77,328,602 (GRCm39) |
splice site |
probably null |
|
IGL02745:Ssh2
|
APN |
11 |
77,346,233 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Ssh2
|
APN |
11 |
77,344,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Ssh2
|
APN |
11 |
77,312,032 (GRCm39) |
splice site |
probably benign |
|
david
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
faba
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
goliath
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
Vicia
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03055:Ssh2
|
UTSW |
11 |
77,299,021 (GRCm39) |
nonsense |
probably null |
|
R0024:Ssh2
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0374:Ssh2
|
UTSW |
11 |
77,298,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
0.11 |
R0834:Ssh2
|
UTSW |
11 |
77,328,459 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1714:Ssh2
|
UTSW |
11 |
77,344,850 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1743:Ssh2
|
UTSW |
11 |
77,328,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R3945:Ssh2
|
UTSW |
11 |
77,345,494 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3947:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R3948:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R4133:Ssh2
|
UTSW |
11 |
77,312,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R4256:Ssh2
|
UTSW |
11 |
77,299,009 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4499:Ssh2
|
UTSW |
11 |
77,283,893 (GRCm39) |
nonsense |
probably null |
|
R4548:Ssh2
|
UTSW |
11 |
77,341,010 (GRCm39) |
missense |
probably benign |
0.20 |
R4644:Ssh2
|
UTSW |
11 |
77,340,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4690:Ssh2
|
UTSW |
11 |
77,346,031 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4788:Ssh2
|
UTSW |
11 |
77,320,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R4919:Ssh2
|
UTSW |
11 |
77,316,146 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5014:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
R5380:Ssh2
|
UTSW |
11 |
77,344,771 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Ssh2
|
UTSW |
11 |
77,340,941 (GRCm39) |
missense |
probably benign |
|
R5593:Ssh2
|
UTSW |
11 |
77,312,192 (GRCm39) |
missense |
probably damaging |
0.99 |
R5739:Ssh2
|
UTSW |
11 |
77,340,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Ssh2
|
UTSW |
11 |
77,344,291 (GRCm39) |
missense |
probably benign |
0.43 |
R6542:Ssh2
|
UTSW |
11 |
77,340,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6713:Ssh2
|
UTSW |
11 |
77,340,259 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7108:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
|
R7124:Ssh2
|
UTSW |
11 |
77,345,164 (GRCm39) |
missense |
probably benign |
0.00 |
R7332:Ssh2
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7362:Ssh2
|
UTSW |
11 |
77,340,476 (GRCm39) |
missense |
probably benign |
0.01 |
R7395:Ssh2
|
UTSW |
11 |
77,283,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R7412:Ssh2
|
UTSW |
11 |
77,340,934 (GRCm39) |
missense |
probably damaging |
0.98 |
R7493:Ssh2
|
UTSW |
11 |
77,328,542 (GRCm39) |
missense |
probably benign |
0.16 |
R7686:Ssh2
|
UTSW |
11 |
77,316,150 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7870:Ssh2
|
UTSW |
11 |
77,344,441 (GRCm39) |
missense |
probably benign |
|
R7895:Ssh2
|
UTSW |
11 |
77,345,452 (GRCm39) |
missense |
probably benign |
0.41 |
R7963:Ssh2
|
UTSW |
11 |
77,312,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8030:Ssh2
|
UTSW |
11 |
77,345,332 (GRCm39) |
missense |
probably benign |
0.01 |
R8065:Ssh2
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Ssh2
|
UTSW |
11 |
77,345,755 (GRCm39) |
nonsense |
probably null |
|
R8294:Ssh2
|
UTSW |
11 |
77,345,027 (GRCm39) |
missense |
probably benign |
0.08 |
R8464:Ssh2
|
UTSW |
11 |
77,345,079 (GRCm39) |
nonsense |
probably null |
|
R8469:Ssh2
|
UTSW |
11 |
77,340,434 (GRCm39) |
missense |
probably benign |
0.41 |
R8547:Ssh2
|
UTSW |
11 |
77,340,533 (GRCm39) |
missense |
probably benign |
0.10 |
R8677:Ssh2
|
UTSW |
11 |
77,346,019 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8758:Ssh2
|
UTSW |
11 |
77,344,843 (GRCm39) |
missense |
probably benign |
|
R9029:Ssh2
|
UTSW |
11 |
77,328,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9030:Ssh2
|
UTSW |
11 |
77,312,062 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9126:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
R9146:Ssh2
|
UTSW |
11 |
77,328,502 (GRCm39) |
missense |
probably damaging |
0.98 |
R9377:Ssh2
|
UTSW |
11 |
77,298,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9483:Ssh2
|
UTSW |
11 |
77,283,976 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9615:Ssh2
|
UTSW |
11 |
77,316,203 (GRCm39) |
missense |
possibly damaging |
0.48 |
RF018:Ssh2
|
UTSW |
11 |
77,344,880 (GRCm39) |
missense |
probably damaging |
0.99 |
X0017:Ssh2
|
UTSW |
11 |
77,332,724 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ssh2
|
UTSW |
11 |
77,340,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCAAAGCCAGAAGTGGG -3'
(R):5'- CTTGAGTACACAGAGCCTATGC -3'
Sequencing Primer
(F):5'- TTCCAAAGCCAGAAGTGGGATAAC -3'
(R):5'- GATCTCCTGTGTACCAGATGAATGC -3'
|
Posted On |
2019-06-26 |