Incidental Mutation 'R6360:Ssh1'
| ID |
513059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh1
|
| Ensembl Gene |
ENSMUSG00000042121 |
| Gene Name |
slingshot protein phosphatase 1 |
| Synonyms |
mSSH-1L, LOC384311 |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6360 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114075155-114131864 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 114099408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077689]
[ENSMUST00000112298]
[ENSMUST00000159510]
[ENSMUST00000159592]
[ENSMUST00000162396]
|
| AlphaFold |
Q76I79 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077689
|
| SMART Domains |
Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
| 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 null
Transcript: ENSMUST00000112298
|
| SMART Domains |
Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
| 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 benign
Transcript: ENSMUST00000159510
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159592
|
| SMART Domains |
Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162396
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
| Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
| Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
| Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
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 |
|
R6612:Ssh1
|
UTSW |
5 |
114,096,791 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6819:Ssh1
|
UTSW |
5 |
114,084,851 (GRCm39) |
missense |
probably benign |
|
|
R6855:Ssh1
|
UTSW |
5 |
114,080,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGGTCTGGACTCTATTGGTGC -3'
(R):5'- CTCTAGAATCCAGCCGTGAGTG -3'
Sequencing Primer
(F):5'- CACAACTGTGTACCAAGTGTGTGC -3'
(R):5'- AGACAGGATGGGAGCCCTTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation