Incidental Mutation 'R7124:Ssh2'
| ID |
552220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
045212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R7124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77345164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1050
(K1050E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037912
AA Change: K1044E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: K1044E
| 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 benign
Transcript: ENSMUST00000181283
AA Change: K1050E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: K1050E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (72/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
C |
3: 124,208,042 (GRCm39) |
S212R |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,682,196 (GRCm39) |
S170P |
probably benign |
Het |
| 9330182O14Rik |
G |
A |
15: 40,008,303 (GRCm39) |
C59Y |
unknown |
Het |
| AA986860 |
A |
G |
1: 130,670,624 (GRCm39) |
E282G |
possibly damaging |
Het |
| Adam1a |
G |
T |
5: 121,657,397 (GRCm39) |
T632K |
probably benign |
Het |
| Aspg |
G |
T |
12: 112,089,417 (GRCm39) |
A402S |
probably damaging |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Card9 |
C |
T |
2: 26,246,896 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
C |
8: 119,694,912 (GRCm39) |
V254A |
probably damaging |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,459,106 (GRCm39) |
S283P |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 15,953,202 (GRCm39) |
S3426R |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,133,562 (GRCm39) |
V98A |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,167,883 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
C |
11: 104,629,100 (GRCm39) |
F926S |
probably benign |
Het |
| Eif4ebp1 |
T |
C |
8: 27,763,447 (GRCm39) |
V80A |
probably damaging |
Het |
| Eloa |
T |
A |
4: 135,736,452 (GRCm39) |
I565F |
probably damaging |
Het |
| Espn |
G |
T |
4: 152,215,721 (GRCm39) |
H513N |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,491 (GRCm39) |
S648N |
probably benign |
Het |
| Fdxr |
C |
T |
11: 115,160,403 (GRCm39) |
V351M |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,862,260 (GRCm39) |
D2213V |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,267,825 (GRCm39) |
I474F |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,734,035 (GRCm39) |
V1135A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,795,413 (GRCm39) |
Y285* |
probably null |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,579 (GRCm39) |
I203V |
probably damaging |
Het |
| Itga10 |
T |
A |
3: 96,559,081 (GRCm39) |
M390K |
probably damaging |
Het |
| Itgb8 |
G |
T |
12: 119,166,159 (GRCm39) |
S124* |
probably null |
Het |
| Klhdc10 |
T |
A |
6: 30,441,826 (GRCm39) |
F173I |
probably damaging |
Het |
| Kng2 |
T |
G |
16: 22,830,805 (GRCm39) |
N168T |
probably damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,434 (GRCm39) |
T231A |
probably damaging |
Het |
| Lbx2 |
A |
T |
6: 83,065,045 (GRCm39) |
D194V |
probably damaging |
Het |
| Lrrc39 |
C |
A |
3: 116,359,562 (GRCm39) |
Q36K |
probably benign |
Het |
| Madd |
T |
C |
2: 90,992,393 (GRCm39) |
E1093G |
possibly damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,303 (GRCm39) |
T182A |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,786,345 (GRCm39) |
Y670* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,865 (GRCm39) |
L1428P |
probably damaging |
Het |
| Nkx2-3 |
T |
C |
19: 43,603,245 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Npy2r |
G |
A |
3: 82,448,490 (GRCm39) |
A95V |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,846,251 (GRCm39) |
E70G |
probably damaging |
Het |
| Or5ap2 |
T |
C |
2: 85,680,254 (GRCm39) |
S153P |
probably benign |
Het |
| Or5m11 |
T |
A |
2: 85,781,817 (GRCm39) |
S137T |
possibly damaging |
Het |
| Palld |
A |
T |
8: 61,969,679 (GRCm39) |
V1215D |
unknown |
Het |
| Pard6g |
T |
C |
18: 80,160,340 (GRCm39) |
I151T |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,840,256 (GRCm39) |
I554V |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,480,356 (GRCm39) |
P1984S |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,648,196 (GRCm39) |
M128V |
probably benign |
Het |
| Polr2a |
C |
A |
11: 69,628,288 (GRCm39) |
E1302* |
probably null |
Het |
| Psg17 |
C |
A |
7: 18,548,421 (GRCm39) |
G450V |
probably damaging |
Het |
| Psg17 |
C |
G |
7: 18,548,422 (GRCm39) |
G450R |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,128 (GRCm39) |
E338G |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,698,163 (GRCm39) |
K887* |
probably null |
Het |
| Rragd |
T |
C |
4: 32,996,027 (GRCm39) |
F124S |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,513,712 (GRCm39) |
|
probably null |
Het |
| Sfpq |
A |
T |
4: 126,919,725 (GRCm39) |
D490V |
possibly damaging |
Het |
| Smc1b |
G |
T |
15: 84,955,798 (GRCm39) |
Q1034K |
probably damaging |
Het |
| Smg7 |
T |
C |
1: 152,753,831 (GRCm39) |
N5S |
probably benign |
Het |
| Spata31d1a |
A |
C |
13: 59,850,301 (GRCm39) |
L609R |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,882,824 (GRCm39) |
T393I |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,722,320 (GRCm39) |
W49* |
probably null |
Het |
| Thrap3 |
A |
T |
4: 126,074,231 (GRCm39) |
S172T |
unknown |
Het |
| Tmem130 |
A |
G |
5: 144,687,721 (GRCm39) |
V205A |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,717 (GRCm39) |
I123V |
probably benign |
Het |
| Unc79 |
G |
T |
12: 103,027,652 (GRCm39) |
L414F |
probably damaging |
Het |
| Vmn2r30 |
C |
T |
7: 7,337,183 (GRCm39) |
S151N |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,356,078 (GRCm39) |
T443S |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,961,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Zfp617 |
T |
C |
8: 72,686,384 (GRCm39) |
L238P |
probably damaging |
Het |
| Zfp707 |
T |
A |
15: 75,845,398 (GRCm39) |
C87* |
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,275,362 (GRCm39) |
K101R |
unknown |
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 |
|
|
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'- AGGACTGCCTAGGGTCAGATAG -3'
(R):5'- TTGTCTTGCGGGCTACTTAAC -3'
Sequencing Primer
(F):5'- CTGCCTAGGGTCAGATAGTAGAAG -3'
(R):5'- CTTGCGGGCTACTTAACATAGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation