Incidental Mutation 'R4436:Ssh3'
ID 329558
Institutional Source Beutler Lab
Gene Symbol Ssh3
Ensembl Gene ENSMUSG00000034616
Gene Name slingshot protein phosphatase 3
Synonyms SSH-3
MMRRC Submission 041702-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R4436 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4311696-4319208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4315394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 315 (F315L)
Ref Sequence ENSEMBL: ENSMUSP00000109483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037992] [ENSMUST00000056888] [ENSMUST00000113852] [ENSMUST00000163858] [ENSMUST00000169192]
AlphaFold Q8K330
Predicted Effect possibly damaging
Transcript: ENSMUST00000037992
AA Change: F311L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616
AA Change: F311L

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Pfam:DEK_C 268 321 3.3e-18 PFAM
DSPc 325 463 7.25e-42 SMART
low complexity region 488 507 N/A INTRINSIC
low complexity region 539 551 N/A INTRINSIC
low complexity region 594 606 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056888
SMART Domains Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
ANK 72 101 9.75e1 SMART
Pfam:GPCR_chapero_1 155 469 1.2e-111 PFAM
UIM 482 501 3.2e-2 SMART
UIM 528 547 1.92e2 SMART
UIM 564 583 8.18e0 SMART
UIM 589 605 6e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113852
AA Change: F315L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616
AA Change: F315L

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Pfam:DEK_C 273 324 1.1e-15 PFAM
DSPc 329 467 7.25e-42 SMART
low complexity region 492 511 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 598 610 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163858
SMART Domains Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
ANK 39 68 2.77e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169192
SMART Domains Protein: ENSMUSP00000130995
Gene: ENSMUSG00000005986

DomainStartEndE-ValueType
Blast:ANK 1 28 5e-11 BLAST
Pfam:GPCR_chapero_1 82 121 6.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184641
Meta Mutation Damage Score 0.4027 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aff3 T C 1: 38,248,768 (GRCm39) I779V possibly damaging Het
Asap1 T G 15: 64,221,692 (GRCm39) D15A probably benign Het
Ascc2 A G 11: 4,606,305 (GRCm39) D193G probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Ccdc168 T C 1: 44,095,276 (GRCm39) I1941V probably benign Het
Ccdc85a T C 11: 28,526,457 (GRCm39) T384A probably benign Het
Cd86 T C 16: 36,441,194 (GRCm39) N91S probably benign Het
Cdk17 T A 10: 93,047,758 (GRCm39) probably null Het
Cemip T C 7: 83,636,637 (GRCm39) D332G probably null Het
Ces2f G A 8: 105,679,788 (GRCm39) R427H probably benign Het
Clec4a2 G A 6: 123,105,013 (GRCm39) probably null Het
Coa8 T A 12: 111,717,642 (GRCm39) D167E probably benign Het
Coq9 T C 8: 95,579,743 (GRCm39) F198L probably benign Het
Ddx24 C A 12: 103,390,233 (GRCm39) A253S probably damaging Het
Esyt3 A T 9: 99,240,078 (GRCm39) probably benign Het
Fat2 C A 11: 55,187,024 (GRCm39) G1274V probably damaging Het
Ggn A T 7: 28,870,976 (GRCm39) T132S probably damaging Het
Gm11568 T A 11: 99,749,421 (GRCm39) C209S unknown Het
Gm6931 T A 16: 49,245,225 (GRCm39) noncoding transcript Het
Gpr20 C T 15: 73,567,649 (GRCm39) V247I probably benign Het
Grm8 A T 6: 27,761,237 (GRCm39) V329E possibly damaging Het
Gtf2ird2 T C 5: 134,223,808 (GRCm39) L114P possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep3 C T 4: 119,953,120 (GRCm39) P479S probably benign Het
Igkv6-20 A G 6: 70,313,104 (GRCm39) V23A probably damaging Het
Ikbip T A 10: 90,937,751 (GRCm39) N141K probably damaging Het
Irag1 T C 7: 110,476,124 (GRCm39) E815G probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Ltn1 A T 16: 87,202,502 (GRCm39) C1050S probably benign Het
Macf1 T C 4: 123,421,135 (GRCm39) I40V probably benign Het
Or2h2b-ps1 A G 17: 37,480,727 (GRCm39) F271L probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pi4ka T C 16: 17,100,246 (GRCm39) M1885V probably damaging Het
Plek A G 11: 16,942,972 (GRCm39) Y107H probably damaging Het
Ppp1r15a C T 7: 45,174,203 (GRCm39) V202M probably damaging Het
Ppp1r3e C A 14: 55,114,007 (GRCm39) A222S probably benign Het
Rac2 G T 15: 78,454,943 (GRCm39) Y32* probably null Het
Sdf4 T G 4: 156,093,404 (GRCm39) probably null Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Spic T A 10: 88,512,817 (GRCm39) R111S probably benign Het
Ttn T C 2: 76,595,253 (GRCm39) K11972R probably damaging Het
Tubd1 C T 11: 86,439,745 (GRCm39) S30F probably benign Het
Vmn1r17 G C 6: 57,337,719 (GRCm39) I166M possibly damaging Het
Vmn2r94 T C 17: 18,478,645 (GRCm39) Y34C probably damaging Het
Xpo7 G A 14: 70,906,869 (GRCm39) T945M probably damaging Het
Zfp316 C A 5: 143,239,803 (GRCm39) A739S probably damaging Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Ssh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Ssh3 APN 19 4,314,460 (GRCm39) missense probably damaging 1.00
R0398:Ssh3 UTSW 19 4,313,727 (GRCm39) missense possibly damaging 0.72
R0727:Ssh3 UTSW 19 4,314,019 (GRCm39) missense probably damaging 1.00
R1079:Ssh3 UTSW 19 4,316,577 (GRCm39) missense probably damaging 1.00
R2204:Ssh3 UTSW 19 4,319,101 (GRCm39) missense probably damaging 1.00
R2205:Ssh3 UTSW 19 4,319,101 (GRCm39) missense probably damaging 1.00
R2844:Ssh3 UTSW 19 4,315,324 (GRCm39) missense probably damaging 1.00
R2845:Ssh3 UTSW 19 4,315,324 (GRCm39) missense probably damaging 1.00
R2846:Ssh3 UTSW 19 4,315,324 (GRCm39) missense probably damaging 1.00
R3083:Ssh3 UTSW 19 4,312,587 (GRCm39) missense probably benign
R4916:Ssh3 UTSW 19 4,315,170 (GRCm39) missense probably damaging 1.00
R5837:Ssh3 UTSW 19 4,316,428 (GRCm39) missense probably benign 0.01
R6392:Ssh3 UTSW 19 4,315,399 (GRCm39) missense probably benign 0.03
R6611:Ssh3 UTSW 19 4,314,450 (GRCm39) missense probably damaging 1.00
R6932:Ssh3 UTSW 19 4,314,448 (GRCm39) missense probably damaging 1.00
R8710:Ssh3 UTSW 19 4,313,833 (GRCm39) missense probably benign 0.05
R8821:Ssh3 UTSW 19 4,319,053 (GRCm39) missense possibly damaging 0.69
R8831:Ssh3 UTSW 19 4,319,053 (GRCm39) missense possibly damaging 0.69
R8852:Ssh3 UTSW 19 4,317,992 (GRCm39) missense probably damaging 0.99
R8860:Ssh3 UTSW 19 4,317,992 (GRCm39) missense probably damaging 0.99
R8959:Ssh3 UTSW 19 4,318,590 (GRCm39) missense probably damaging 0.99
R9130:Ssh3 UTSW 19 4,314,113 (GRCm39) missense probably damaging 1.00
R9716:Ssh3 UTSW 19 4,312,437 (GRCm39) missense probably benign 0.08
R9718:Ssh3 UTSW 19 4,312,437 (GRCm39) missense probably benign 0.08
X0025:Ssh3 UTSW 19 4,315,735 (GRCm39) missense probably benign 0.01
X0028:Ssh3 UTSW 19 4,316,021 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGGCAGCATTCCACTCAGAG -3'
(R):5'- TAAGCCAGTCCCAATCCCTG -3'

Sequencing Primer
(F):5'- ACTCAGAGCCCTGTACAGTG -3'
(R):5'- AATCCCTGACTTCAGTTCTGTGTAG -3'
Posted On 2015-07-21