Incidental Mutation 'R9615:Ssh2'
| ID |
724522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R9615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77316203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 275
(N275D)
|
| 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: N269D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: N269D
| 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: N275D
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: N275D
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,814 (GRCm39) |
Q124R |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,126,404 (GRCm39) |
F1188I |
probably benign |
Het |
| Acat3 |
G |
A |
17: 13,147,502 (GRCm39) |
Q172* |
probably null |
Het |
| Aicda |
T |
A |
6: 122,538,113 (GRCm39) |
C90* |
probably null |
Het |
| Arhgap39 |
C |
A |
15: 76,621,438 (GRCm39) |
V388L |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,462 (GRCm39) |
H323L |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,984,430 (GRCm39) |
R436Q |
|
Het |
| C3 |
A |
T |
17: 57,518,669 (GRCm39) |
L1238Q |
probably damaging |
Het |
| Cert1 |
C |
T |
13: 96,767,334 (GRCm39) |
H495Y |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,061,807 (GRCm39) |
V33A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,757 (GRCm39) |
D475G |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,511,893 (GRCm39) |
M374V |
probably damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,436 (GRCm39) |
S77P |
possibly damaging |
Het |
| Cox7a2l |
A |
G |
17: 83,821,701 (GRCm39) |
Y2H |
possibly damaging |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,325,991 (GRCm39) |
H2725Y |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,501,617 (GRCm39) |
F57L |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,813,370 (GRCm39) |
V1036D |
possibly damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,191 (GRCm39) |
V562I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,343 (GRCm39) |
Q60R |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,969,475 (GRCm39) |
D275G |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,502,765 (GRCm39) |
K453* |
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,014 (GRCm39) |
T296A |
probably benign |
Het |
| Hrh4 |
C |
A |
18: 13,154,944 (GRCm39) |
T161K |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,822 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,292,192 (GRCm39) |
Y71N |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,373 (GRCm39) |
L404P |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,326 (GRCm39) |
K206* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,754,047 (GRCm39) |
I363V |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,835,675 (GRCm39) |
I249F |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,374,320 (GRCm39) |
N125I |
|
Het |
| Nbr1 |
T |
A |
11: 101,465,978 (GRCm39) |
I753N |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,138,434 (GRCm39) |
D451G |
probably benign |
Het |
| Nlrp5 |
C |
T |
7: 23,107,561 (GRCm39) |
T78I |
probably benign |
Het |
| Or10j3b |
A |
T |
1: 173,044,034 (GRCm39) |
E272V |
possibly damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,399 (GRCm39) |
F728S |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,980,802 (GRCm39) |
F456Y |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,556,835 (GRCm39) |
A1668V |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 44,969,560 (GRCm39) |
D310E |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,714 (GRCm39) |
I349K |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,487,504 (GRCm39) |
M610T |
possibly damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,056 (GRCm39) |
I105V |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,611 (GRCm39) |
E123G |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,306 (GRCm39) |
V149A |
probably benign |
Het |
| Smndc1 |
T |
A |
19: 53,368,951 (GRCm39) |
M221L |
probably damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,651,715 (GRCm39) |
R79H |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,347,032 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
C |
17: 31,217,152 (GRCm39) |
Q1128P |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,633 (GRCm39) |
R237C |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,074 (GRCm39) |
C343S |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,326 (GRCm39) |
Y249H |
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 |
|
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 |
|
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 |
|
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'- AACTCACTATGTATTCGCCTGC -3'
(R):5'- CAAGTTGCACACCATCTGCATC -3'
Sequencing Primer
(F):5'- ATGTATTCGCCTGCAATTTTCATTTG -3'
(R):5'- TGCACACCATCTGCATCTCCAG -3'
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| Posted On |
2022-09-12 |
Incidental Mutation