Incidental Mutation 'R7649:Ssh1'
ID 590687
Institutional Source Beutler Lab
Gene Symbol Ssh1
Ensembl Gene ENSMUSG00000042121
Gene Name slingshot protein phosphatase 1
Synonyms mSSH-1L, LOC384311
MMRRC Submission 045646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7649 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114075155-114131864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114088612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 395 (M395K)
Ref Sequence ENSEMBL: ENSMUSP00000124312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077689] [ENSMUST00000112298] [ENSMUST00000159592]
AlphaFold Q76I79
Predicted Effect probably benign
Transcript: ENSMUST00000077689
AA Change: M352K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: M352K

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: M373K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: M373K

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: ENSMUST00000159592
AA Change: M395K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: M395K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Clta T G 4: 44,025,494 (GRCm39) I140R possibly damaging Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Crkl T C 16: 17,270,366 (GRCm39) S9P unknown Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Rps6kb2 A G 19: 4,207,020 (GRCm39) S483P unknown Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging Het
Zfp521 T C 18: 13,977,413 (GRCm39) E1000G probably damaging Het
Other mutations in Ssh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTGTCTAGGTGCTCTCTCAC -3'
(R):5'- AGCACGCATTGGAAAGCTGG -3'

Sequencing Primer
(F):5'- TCACCTTGCATCCAGGATG -3'
(R):5'- GCCAGGCCATGCAGATTCATC -3'
Posted On 2019-10-24