Incidental Mutation 'IGL02686:Cts8'
ID303575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts8
Ensembl Gene ENSMUSG00000057446
Gene Namecathepsin 8
SynonymsCTS2, Epcs68, Epcs70
Accession Numbers

Genbank: NM_019541; MGI: 1860275

Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL02686
Quality Score
Status
Chromosome13
Chromosomal Location61246745-61255358 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61250970 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 241 (T241A)
Ref Sequence ENSEMBL: ENSMUSP00000021891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021891] [ENSMUST00000223988]
Predicted Effect probably benign
Transcript: ENSMUST00000021891
AA Change: T241A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: T241A

DomainStartEndE-ValueType
Inhibitor_I29 29 88 1.92e-21 SMART
Pept_C1 114 332 2.28e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223988
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,421,674 G58S possibly damaging Het
Adcyap1r1 G A 6: 55,481,125 A304T probably benign Het
Adipoq A G 16: 23,157,115 T110A possibly damaging Het
Ago2 T C 15: 73,113,742 Y668C possibly damaging Het
Ampd2 A T 3: 108,076,495 D575E possibly damaging Het
Anxa5 C T 3: 36,449,355 E317K probably benign Het
Atf2 A T 2: 73,845,500 M169K possibly damaging Het
Bicc1 C A 10: 70,943,360 probably benign Het
Bicra A G 7: 15,987,915 M559T probably benign Het
Cacna1e G A 1: 154,493,409 A294V probably damaging Het
Cacna1h G A 17: 25,385,749 P1197S possibly damaging Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cubn T C 2: 13,325,226 I2615V possibly damaging Het
Cxcl12 A G 6: 117,173,585 probably benign Het
Fig4 T C 10: 41,264,004 D307G probably damaging Het
Flt1 T C 5: 147,588,602 I909V probably damaging Het
Foxk1 T A 5: 142,453,585 S427T probably damaging Het
Gosr1 G A 11: 76,750,862 T130M probably benign Het
Grik1 G T 16: 88,009,761 probably null Het
Hipk1 C T 3: 103,778,017 S94N possibly damaging Het
Ints7 T C 1: 191,586,592 L147P probably damaging Het
Nsd3 A G 8: 25,666,070 D551G probably damaging Het
Olfr510 A T 7: 108,667,886 I157F probably benign Het
Olfr741 G A 14: 50,485,969 M170I probably benign Het
Prrc2c T C 1: 162,707,947 probably benign Het
Ren1 A T 1: 133,358,469 N250I possibly damaging Het
Ripply2 A C 9: 87,015,956 probably benign Het
Ryr1 G T 7: 29,069,550 probably benign Het
Smad3 T A 9: 63,667,782 K51M probably damaging Het
Snapc1 C A 12: 73,964,596 probably benign Het
Srfbp1 T G 18: 52,475,654 V42G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab1 T C 15: 80,148,830 V105A probably benign Het
Tat T C 8: 109,996,849 V323A probably damaging Het
Tdo2 T C 3: 81,968,155 N164S probably benign Het
Tefm T A 11: 80,136,896 L345F probably damaging Het
Tmem145 C A 7: 25,314,725 N407K probably damaging Het
Uhrf1bp1 T C 17: 27,894,589 I1245T probably benign Het
Uhrf1bp1l A T 10: 89,805,193 Q742L probably benign Het
Vmn2r116 A G 17: 23,388,793 N445S probably damaging Het
Vmn2r20 A G 6: 123,385,626 M733T probably benign Het
Vmn2r93 G A 17: 18,313,264 V477M possibly damaging Het
Zdhhc4 A G 5: 143,320,391 F194S probably damaging Het
Zfp738 A T 13: 67,673,652 S25T probably damaging Het
Other mutations in Cts8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Cts8 APN 13 61251578 missense probably damaging 1.00
IGL01343:Cts8 APN 13 61249196 splice site probably benign
IGL01681:Cts8 APN 13 61253619 missense probably benign 0.01
IGL02264:Cts8 APN 13 61250958 missense probably damaging 1.00
IGL03196:Cts8 APN 13 61253458 missense probably benign 0.05
R0123:Cts8 UTSW 13 61253577 missense probably benign 0.01
R0630:Cts8 UTSW 13 61253442 missense possibly damaging 0.71
R0856:Cts8 UTSW 13 61250916 missense probably damaging 1.00
R0908:Cts8 UTSW 13 61250916 missense probably damaging 1.00
R1932:Cts8 UTSW 13 61253615 missense probably damaging 0.98
R2186:Cts8 UTSW 13 61251731 missense probably damaging 1.00
R3103:Cts8 UTSW 13 61250958 missense probably damaging 1.00
R3772:Cts8 UTSW 13 61250901 splice site probably benign
R5127:Cts8 UTSW 13 61253335 missense probably damaging 1.00
R5432:Cts8 UTSW 13 61251012 missense probably benign 0.00
R6088:Cts8 UTSW 13 61253966 missense probably benign 0.01
R6298:Cts8 UTSW 13 61249223 missense possibly damaging 0.77
R6501:Cts8 UTSW 13 61250942 missense probably damaging 1.00
R7177:Cts8 UTSW 13 61251691 missense possibly damaging 0.48
R7571:Cts8 UTSW 13 61248167 missense probably damaging 1.00
RF008:Cts8 UTSW 13 61249288 missense probably benign
X0062:Cts8 UTSW 13 61251008 missense possibly damaging 0.85
Posted On2015-04-16