Incidental Mutation 'R4690:Ssh2'
| ID |
354859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
041941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R4690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77346031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1339
(I1339F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037912
AA Change: I1333F
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: I1333F
| 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 |
possibly damaging
Transcript: ENSMUST00000181283
AA Change: I1339F
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: I1339F
| 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 |
0.0731 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (89/91) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,039,706 (GRCm39) |
F436L |
probably damaging |
Het |
| Adam28 |
G |
T |
14: 68,879,497 (GRCm39) |
Q184K |
probably benign |
Het |
| Adh6a |
A |
G |
3: 138,031,932 (GRCm39) |
T275A |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,927,244 (GRCm39) |
D1082G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,400,150 (GRCm39) |
V263E |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,372,420 (GRCm39) |
|
probably null |
Het |
| Bspry |
G |
A |
4: 62,404,762 (GRCm39) |
R186Q |
probably damaging |
Het |
| Ccdc188 |
T |
A |
16: 18,036,159 (GRCm39) |
H111Q |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,911,615 (GRCm39) |
F209S |
possibly damaging |
Het |
| Cfap43 |
C |
A |
19: 47,736,298 (GRCm39) |
V1398L |
probably benign |
Het |
| Cln3 |
A |
T |
7: 126,174,565 (GRCm39) |
I286N |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,263,787 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
G |
6: 113,279,016 (GRCm39) |
E470G |
probably damaging |
Het |
| Cul5 |
A |
T |
9: 53,534,171 (GRCm39) |
W654R |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,634 (GRCm39) |
K51* |
probably null |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dot1l |
C |
A |
10: 80,622,016 (GRCm39) |
S556* |
probably null |
Het |
| Eif3d |
A |
T |
15: 77,851,516 (GRCm39) |
M98K |
probably benign |
Het |
| Fiz1 |
A |
G |
7: 5,012,167 (GRCm39) |
V117A |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,257,636 (GRCm39) |
V722A |
probably benign |
Het |
| Ftdc1 |
G |
A |
16: 58,434,333 (GRCm39) |
T128I |
probably benign |
Het |
| Gm3095 |
G |
T |
14: 3,964,471 (GRCm38) |
R63I |
probably benign |
Het |
| Gm7133 |
A |
T |
1: 97,197,224 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxb8 |
A |
T |
11: 96,175,286 (GRCm39) |
D241V |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,230,959 (GRCm39) |
Q399R |
unknown |
Het |
| Itpk1 |
A |
T |
12: 102,572,434 (GRCm39) |
V93D |
probably damaging |
Het |
| Kars1 |
C |
T |
8: 112,729,216 (GRCm39) |
A164T |
probably benign |
Het |
| Kcnq4 |
A |
T |
4: 120,574,208 (GRCm39) |
I150N |
probably damaging |
Het |
| Kcnrg |
A |
T |
14: 61,849,176 (GRCm39) |
L212F |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,216,759 (GRCm39) |
D521E |
probably benign |
Het |
| Klf11 |
C |
T |
12: 24,705,071 (GRCm39) |
T158M |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,034 (GRCm39) |
I175V |
probably benign |
Het |
| Lsm1 |
A |
G |
8: 26,283,708 (GRCm39) |
N40S |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,567,576 (GRCm39) |
E1715G |
unknown |
Het |
| Mecom |
C |
A |
3: 30,292,459 (GRCm39) |
A4S |
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
| Mug2 |
A |
T |
6: 122,013,255 (GRCm39) |
I341L |
probably benign |
Het |
| Mxra7 |
A |
T |
11: 116,707,078 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
C |
9: 75,061,105 (GRCm39) |
L537P |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,855,533 (GRCm39) |
N1241Y |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,582,497 (GRCm39) |
R531G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,134,087 (GRCm39) |
M3299L |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,453,130 (GRCm39) |
Y76N |
probably benign |
Het |
| Nmral1 |
T |
C |
16: 4,534,205 (GRCm39) |
T79A |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,155,300 (GRCm39) |
Q23* |
probably null |
Het |
| Nrxn1 |
A |
T |
17: 90,344,509 (GRCm39) |
V438D |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,132 (GRCm39) |
N173H |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,242 (GRCm39) |
C139S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,836 (GRCm39) |
T182A |
probably benign |
Het |
| Pank2 |
T |
C |
2: 131,115,945 (GRCm39) |
I121T |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,528 (GRCm39) |
T36S |
probably benign |
Het |
| Pfdn1 |
A |
T |
18: 36,584,133 (GRCm39) |
M67K |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,058,456 (GRCm39) |
E3849G |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,514,349 (GRCm39) |
S817T |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,012,707 (GRCm39) |
D401E |
probably damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,798,992 (GRCm39) |
D891V |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 33,001,500 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,410,749 (GRCm39) |
|
probably null |
Het |
| Rab13 |
G |
C |
3: 90,128,330 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
C |
T |
10: 80,382,255 (GRCm39) |
A751T |
probably benign |
Het |
| Rfx1 |
T |
C |
8: 84,809,374 (GRCm39) |
V233A |
possibly damaging |
Het |
| Rnf149 |
C |
T |
1: 39,616,295 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,097,086 (GRCm39) |
D122G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,698,639 (GRCm39) |
F70S |
probably damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,649,526 (GRCm39) |
S44P |
possibly damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,549 (GRCm39) |
T471A |
possibly damaging |
Het |
| Slc6a1 |
A |
G |
6: 114,279,792 (GRCm39) |
Y152C |
probably damaging |
Het |
| Spata31f3 |
T |
A |
4: 42,873,032 (GRCm39) |
|
probably null |
Het |
| Spata6 |
A |
T |
4: 111,632,023 (GRCm39) |
T145S |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,137,186 (GRCm39) |
G956D |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,697,078 (GRCm39) |
*99K |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,196,037 (GRCm39) |
Y336C |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,381,419 (GRCm39) |
|
probably benign |
Het |
| Tmem178b |
T |
G |
6: 40,222,547 (GRCm39) |
D87E |
probably benign |
Het |
| Tmem184a |
A |
C |
5: 139,791,377 (GRCm39) |
S380A |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,411,682 (GRCm39) |
K84R |
possibly damaging |
Het |
| Tpgs1 |
A |
G |
10: 79,511,235 (GRCm39) |
T126A |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,447,834 (GRCm39) |
E437G |
possibly damaging |
Het |
| Trpc4ap |
C |
T |
2: 155,477,053 (GRCm39) |
C755Y |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 126,866,547 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,570,811 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,010 (GRCm39) |
M256K |
probably benign |
Het |
| Zdhhc8 |
T |
C |
16: 18,044,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Zfp326 |
G |
A |
5: 106,054,942 (GRCm39) |
R282H |
probably damaging |
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 |
|
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 |
|
R7255:Ssh2
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGTTACCTGGACCTTTGTAAAG -3'
(R):5'- AGTTCTGCCATGTTGCTGAC -3'
Sequencing Primer
(F):5'- CTACTTACCAGATAGAGAGCTTGTC -3'
(R):5'- CATGTTGCTGACGGGGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation