Incidental Mutation 'R6855:Ssh1'
| ID |
535192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
045024-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114080636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 931
(D931E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159592]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077689
AA Change: D888E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: D888E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEK_C
|
208 |
261 |
1.1e-19 |
PFAM |
|
DSPc
|
265 |
403 |
7.82e-47 |
SMART |
|
low complexity region
|
490 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
892 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112298
AA Change: D909E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: D909E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
229 |
282 |
9.5e-20 |
PFAM |
|
DSPc
|
286 |
424 |
7.82e-47 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159592
AA Change: D931E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: D931E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
252 |
303 |
2.3e-17 |
PFAM |
|
DSPc
|
308 |
446 |
7.82e-47 |
SMART |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
935 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
| Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,245,544 (GRCm39) |
K98N |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
| Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
| Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
| Elp2 |
T |
A |
18: 24,739,934 (GRCm39) |
N53K |
possibly damaging |
Het |
| Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
| Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
| Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
| Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
| Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
| Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
| Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
| Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
| Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
| Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
| Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,635,029 (GRCm39) |
L430Q |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
| Rnf38 |
C |
T |
4: 44,149,224 (GRCm39) |
R41H |
probably damaging |
Het |
| Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,819,573 (GRCm39) |
C560R |
probably damaging |
Het |
| Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
| Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
| Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
| Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
probably damaging |
Het |
|
| Other mutations in Ssh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Ssh1
|
APN |
5 |
114,080,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Ssh1
|
APN |
5 |
114,096,883 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01933:Ssh1
|
APN |
5 |
114,088,441 (GRCm39) |
splice site |
probably benign |
|
|
IGL01951:Ssh1
|
APN |
5 |
114,104,308 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02117:Ssh1
|
APN |
5 |
114,084,541 (GRCm39) |
nonsense |
probably null |
|
|
IGL02391:Ssh1
|
APN |
5 |
114,080,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0510:Ssh1
|
UTSW |
5 |
114,084,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0682:Ssh1
|
UTSW |
5 |
114,098,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Ssh1
|
UTSW |
5 |
114,104,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Ssh1
|
UTSW |
5 |
114,108,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Ssh1
|
UTSW |
5 |
114,090,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Ssh1
|
UTSW |
5 |
114,090,081 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1754:Ssh1
|
UTSW |
5 |
114,093,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1867:Ssh1
|
UTSW |
5 |
114,081,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Ssh1
|
UTSW |
5 |
114,080,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2262:Ssh1
|
UTSW |
5 |
114,080,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2497:Ssh1
|
UTSW |
5 |
114,096,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Ssh1
|
UTSW |
5 |
114,104,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Ssh1
|
UTSW |
5 |
114,080,769 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5120:Ssh1
|
UTSW |
5 |
114,095,459 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5283:Ssh1
|
UTSW |
5 |
114,088,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Ssh1
|
UTSW |
5 |
114,084,627 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5877:Ssh1
|
UTSW |
5 |
114,081,181 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6140:Ssh1
|
UTSW |
5 |
114,080,692 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6360:Ssh1
|
UTSW |
5 |
114,099,408 (GRCm39) |
splice site |
probably null |
|
|
R6612:Ssh1
|
UTSW |
5 |
114,096,791 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6819:Ssh1
|
UTSW |
5 |
114,084,851 (GRCm39) |
missense |
probably benign |
|
|
R7389:Ssh1
|
UTSW |
5 |
114,096,892 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7470:Ssh1
|
UTSW |
5 |
114,080,488 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7568:Ssh1
|
UTSW |
5 |
114,095,441 (GRCm39) |
splice site |
probably null |
|
|
R7647:Ssh1
|
UTSW |
5 |
114,081,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Ssh1
|
UTSW |
5 |
114,088,612 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7754:Ssh1
|
UTSW |
5 |
114,104,295 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7887:Ssh1
|
UTSW |
5 |
114,099,410 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8167:Ssh1
|
UTSW |
5 |
114,090,051 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8289:Ssh1
|
UTSW |
5 |
114,080,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ssh1
|
UTSW |
5 |
114,104,355 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGGATGTGTCAGCCTC -3'
(R):5'- GTTGAAGAGCCTGCCTTCAGAC -3'
Sequencing Primer
(F):5'- AGCCTCGCTGGACAGGTC -3'
(R):5'- GCCTTCAGACTCACCAGCTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation