Incidental Mutation 'IGL01432:Ssh1'
ID 84205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssh1
Ensembl Gene ENSMUSG00000042121
Gene Name slingshot protein phosphatase 1
Synonyms mSSH-1L, LOC384311
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01432
Quality Score
Status
Chromosome 5
Chromosomal Location 114075155-114131864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114096883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 165 (T165N)
Ref Sequence ENSEMBL: ENSMUSP00000076873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077689] [ENSMUST00000112298] [ENSMUST00000159510] [ENSMUST00000159592]
AlphaFold Q76I79
Predicted Effect probably benign
Transcript: ENSMUST00000077689
AA Change: T165N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: T165N

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112298
AA Change: T186N

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: T186N

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000159592
AA Change: T208N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: T208N

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Ssh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Ssh1 APN 5 114,080,637 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-11-11