Incidental Mutation 'IGL00840:Cts8'
ID 13394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts8
Ensembl Gene ENSMUSG00000057446
Gene Name cathepsin 8
Synonyms Epcs68, CTS2, Epcs70
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL00840
Quality Score
Status
Chromosome 13
Chromosomal Location 61394561-61403162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61399392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 189 (Y189C)
Ref Sequence ENSEMBL: ENSMUSP00000021891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021891] [ENSMUST00000223988]
AlphaFold Q9JI81
Predicted Effect probably damaging
Transcript: ENSMUST00000021891
AA Change: Y189C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: Y189C

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,180,363 (GRCm39) Y1764C probably damaging Het
Agbl3 T C 6: 34,776,094 (GRCm39) V200A possibly damaging Het
Akr1b10 T C 6: 34,371,041 (GRCm39) S264P possibly damaging Het
Camkmt T G 17: 85,765,551 (GRCm39) L319* probably null Het
Cdhr2 T C 13: 54,867,965 (GRCm39) W513R probably damaging Het
Cyp2d10 T A 15: 82,288,691 (GRCm39) T264S probably benign Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dnah8 G A 17: 31,009,915 (GRCm39) V3769M probably damaging Het
Dnajc16 C A 4: 141,495,314 (GRCm39) G468V probably damaging Het
Eif3d A T 15: 77,846,069 (GRCm39) N351K probably benign Het
F5 T C 1: 164,007,093 (GRCm39) M299T probably benign Het
Fcamr G A 1: 130,740,951 (GRCm39) V457M probably benign Het
Heatr5b A G 17: 79,072,866 (GRCm39) L1599P probably damaging Het
Kl A T 5: 150,904,252 (GRCm39) I335F possibly damaging Het
Knop1 A G 7: 118,452,021 (GRCm39) Y233H probably damaging Het
Lhcgr T C 17: 89,061,164 (GRCm39) probably benign Het
Lypd11 A T 7: 24,422,931 (GRCm39) L129H probably damaging Het
Macrod2 A T 2: 142,018,578 (GRCm39) N237I possibly damaging Het
Myo7a T C 7: 97,700,866 (GRCm39) S2168G probably benign Het
Naxe T C 3: 87,965,290 (GRCm39) I108V probably benign Het
Ncbp1 T A 4: 46,161,307 (GRCm39) W428R probably damaging Het
Nxpe3 T C 16: 55,664,595 (GRCm39) I542V probably damaging Het
Phkb T A 8: 86,684,216 (GRCm39) S424R probably benign Het
Rgs20 C T 1: 5,140,238 (GRCm39) V55I probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Rpgr T C X: 10,074,948 (GRCm39) I233V possibly damaging Het
Slc25a31 T C 3: 40,679,308 (GRCm39) S258P probably benign Het
Soat1 A C 1: 156,261,766 (GRCm39) V414G probably damaging Het
St18 A T 1: 6,903,818 (GRCm39) E693V probably damaging Het
Svil T C 18: 5,063,555 (GRCm39) V1029A probably benign Het
Tnfaip3 C A 10: 18,880,874 (GRCm39) V398L probably damaging Het
Ubap1 A G 4: 41,379,562 (GRCm39) T259A probably benign Het
Wdr7 A G 18: 64,060,398 (GRCm39) E1347G possibly damaging Het
Other mutations in Cts8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Cts8 APN 13 61,397,010 (GRCm39) splice site probably benign
IGL01681:Cts8 APN 13 61,401,433 (GRCm39) missense probably benign 0.01
IGL02264:Cts8 APN 13 61,398,772 (GRCm39) missense probably damaging 1.00
IGL02686:Cts8 APN 13 61,398,784 (GRCm39) missense probably benign 0.09
IGL03196:Cts8 APN 13 61,401,272 (GRCm39) missense probably benign 0.05
R0123:Cts8 UTSW 13 61,401,391 (GRCm39) missense probably benign 0.01
R0630:Cts8 UTSW 13 61,401,256 (GRCm39) missense possibly damaging 0.71
R0856:Cts8 UTSW 13 61,398,730 (GRCm39) missense probably damaging 1.00
R0908:Cts8 UTSW 13 61,398,730 (GRCm39) missense probably damaging 1.00
R1932:Cts8 UTSW 13 61,401,429 (GRCm39) missense probably damaging 0.98
R2186:Cts8 UTSW 13 61,399,545 (GRCm39) missense probably damaging 1.00
R3103:Cts8 UTSW 13 61,398,772 (GRCm39) missense probably damaging 1.00
R3772:Cts8 UTSW 13 61,398,715 (GRCm39) splice site probably benign
R5127:Cts8 UTSW 13 61,401,149 (GRCm39) missense probably damaging 1.00
R5432:Cts8 UTSW 13 61,398,826 (GRCm39) missense probably benign 0.00
R6088:Cts8 UTSW 13 61,401,780 (GRCm39) missense probably benign 0.01
R6298:Cts8 UTSW 13 61,397,037 (GRCm39) missense possibly damaging 0.77
R6501:Cts8 UTSW 13 61,398,756 (GRCm39) missense probably damaging 1.00
R7177:Cts8 UTSW 13 61,399,505 (GRCm39) missense possibly damaging 0.48
R7571:Cts8 UTSW 13 61,395,981 (GRCm39) missense probably damaging 1.00
R8293:Cts8 UTSW 13 61,401,882 (GRCm39) missense probably benign 0.03
R8748:Cts8 UTSW 13 61,397,086 (GRCm39) missense probably damaging 1.00
R8917:Cts8 UTSW 13 61,396,882 (GRCm39) intron probably benign
R9083:Cts8 UTSW 13 61,397,036 (GRCm39) missense probably damaging 1.00
R9803:Cts8 UTSW 13 61,401,136 (GRCm39) missense possibly damaging 0.50
RF008:Cts8 UTSW 13 61,397,102 (GRCm39) missense probably benign
X0062:Cts8 UTSW 13 61,398,822 (GRCm39) missense possibly damaging 0.85
Posted On 2012-12-06