Incidental Mutation 'R8710:Ssh3'
ID 669538
Institutional Source Beutler Lab
Gene Symbol Ssh3
Ensembl Gene ENSMUSG00000034616
Gene Name slingshot protein phosphatase 3
Synonyms SSH-3
MMRRC Submission 068564-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R8710 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4311696-4319208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4313833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 475 (H475Q)
Ref Sequence ENSEMBL: ENSMUSP00000109483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037992] [ENSMUST00000113852]
AlphaFold Q8K330
Predicted Effect probably benign
Transcript: ENSMUST00000037992
AA Change: H471Q

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047718
Gene: ENSMUSG00000034616
AA Change: H471Q

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: ENSMUST00000113852
AA Change: H475Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109483
Gene: ENSMUSG00000034616
AA Change: H475Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (68/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,005,495 (GRCm39) N1126S probably damaging Het
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Agpat5 T A 8: 18,928,105 (GRCm39) D223E possibly damaging Het
Anks3 A C 16: 4,775,976 (GRCm39) Y75* probably null Het
Ano5 T G 7: 51,243,419 (GRCm39) D847E probably damaging Het
Asb6 G T 2: 30,717,072 (GRCm39) T51K probably benign Het
Bahcc1 A G 11: 120,174,953 (GRCm39) E1702G probably damaging Het
Bend7 A G 2: 4,767,925 (GRCm39) M294V probably benign Het
Cadm1 T A 9: 47,759,466 (GRCm39) D392E probably damaging Het
Camkmt T C 17: 85,421,277 (GRCm39) probably benign Het
Cd300a A G 11: 114,785,501 (GRCm39) T149A probably benign Het
Cd69 A T 6: 129,246,573 (GRCm39) W153R possibly damaging Het
Cdc25c T A 18: 34,882,666 (GRCm39) probably benign Het
Clnk A C 5: 38,931,940 (GRCm39) C40W possibly damaging Het
Cthrc1 T A 15: 38,947,821 (GRCm39) L180Q probably damaging Het
Cyld A G 8: 89,436,523 (GRCm39) N271S probably damaging Het
Dnah14 T C 1: 181,517,876 (GRCm39) I2070T probably benign Het
Dnah17 A C 11: 117,932,973 (GRCm39) L3595R probably damaging Het
Edrf1 A G 7: 133,245,495 (GRCm39) Y211C probably damaging Het
Efcab6 A G 15: 83,902,849 (GRCm39) I167T probably benign Het
Elavl3 A T 9: 21,937,849 (GRCm39) Y148N probably damaging Het
Ermardl2 A T 17: 15,209,194 (GRCm39) N342I probably damaging Het
Fam83c A G 2: 155,671,642 (GRCm39) S598P probably benign Het
Gm38119 ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA 3: 92,645,197 (GRCm39) probably benign Het
Helb A G 10: 119,941,872 (GRCm39) L272P probably damaging Het
Iars2 A C 1: 185,027,783 (GRCm39) V715G probably benign Het
Iqgap2 T G 13: 95,796,756 (GRCm39) N1133H probably benign Het
Kifc5b T A 17: 27,139,880 (GRCm39) M43K probably damaging Het
Krtap7-1 T A 16: 89,305,008 (GRCm39) Y48F possibly damaging Het
Lag3 G A 6: 124,885,408 (GRCm39) T324I probably damaging Het
Mapkapk2 C A 1: 130,986,448 (GRCm39) A97S possibly damaging Het
Mettl4 A G 17: 95,041,072 (GRCm39) S361P probably damaging Het
Myh4 A G 11: 67,143,158 (GRCm39) T1029A probably benign Het
Nsl1 C A 1: 190,795,420 (GRCm39) A62D probably benign Het
Oas1e T A 5: 120,930,027 (GRCm39) K164* probably null Het
Obsl1 A G 1: 75,469,326 (GRCm39) F1205S probably benign Het
Or14j2 G T 17: 37,885,540 (GRCm39) A258E probably benign Het
Or1e1b-ps1 G A 11: 73,845,694 (GRCm39) M59I possibly damaging Het
Or8c15 C T 9: 38,121,066 (GRCm39) A237V possibly damaging Het
Or8g18 T A 9: 39,149,306 (GRCm39) Y138F probably benign Het
Pald1 A G 10: 61,183,232 (GRCm39) F334S probably benign Het
Pikfyve A G 1: 65,255,155 (GRCm39) E325G possibly damaging Het
Plekha8 A G 6: 54,599,245 (GRCm39) T215A probably benign Het
Ptprq T C 10: 107,411,919 (GRCm39) R1816G possibly damaging Het
Ralgps1 G A 2: 33,035,433 (GRCm39) L472F probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Rfx6 A G 10: 51,601,501 (GRCm39) T607A probably damaging Het
Rnf214 T A 9: 45,778,748 (GRCm39) probably benign Het
Rtca A T 3: 116,291,303 (GRCm39) Y226N probably benign Het
Sash1 T A 10: 8,656,285 (GRCm39) N236Y possibly damaging Het
Skint11 A G 4: 114,051,951 (GRCm39) I100V probably benign Het
Skint5 A T 4: 113,483,787 (GRCm39) S948R unknown Het
Slc25a13 A T 6: 6,114,238 (GRCm39) Y279N probably benign Het
Slc5a2 T C 7: 127,864,966 (GRCm39) L33P probably damaging Het
Slco1a5 A T 6: 142,198,828 (GRCm39) V279E probably benign Het
Tapt1 A G 5: 44,351,743 (GRCm39) S107P probably benign Het
Tjp2 T C 19: 24,072,796 (GRCm39) E1166G probably damaging Het
Tll1 A G 8: 64,577,940 (GRCm39) L89P possibly damaging Het
Tmc4 G T 7: 3,678,463 (GRCm39) T123N probably benign Het
Tmem139 A G 6: 42,241,021 (GRCm39) D202G probably damaging Het
Trim35 T C 14: 66,545,367 (GRCm39) S313P probably damaging Het
Ttc23l A G 15: 10,540,021 (GRCm39) I154T probably damaging Het
Ttc9c T C 19: 8,795,860 (GRCm39) T60A probably benign Het
Wdfy3 G T 5: 102,030,349 (GRCm39) N2386K probably damaging Het
Wdpcp C A 11: 21,610,924 (GRCm39) Q49K probably benign Het
Xrn1 A T 9: 95,884,285 (GRCm39) Y867F Het
Zfp423 C T 8: 88,507,549 (GRCm39) E932K possibly damaging Het
Zfp592 T C 7: 80,673,321 (GRCm39) F95S probably damaging Het
Zfp644 T G 5: 106,782,997 (GRCm39) N1095H probably damaging Het
Zfp983 A T 17: 21,880,234 (GRCm39) N54I probably damaging 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
R4436:Ssh3 UTSW 19 4,315,394 (GRCm39) missense probably damaging 1.00
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
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'- ATGACCCCTCGAAGGTTGATG -3'
(R):5'- CTATGCCATGAAACAGTATGGC -3'

Sequencing Primer
(F):5'- AAGGTTGATGCGGGGCC -3'
(R):5'- ACCTGGAGCAAGCCCTGATC -3'
Posted On 2021-04-30