Incidental Mutation 'IGL02264:Cts8'
ID286850
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: 0.113) question?
Stock #IGL02264
Quality Score
Status
Chromosome13
Chromosomal Location61246745-61255358 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61250958 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 245 (I245F)
Ref Sequence ENSEMBL: ENSMUSP00000021891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021891] [ENSMUST00000223988]
Predicted Effect probably damaging
Transcript: ENSMUST00000021891
AA Change: I245F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: I245F

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,542,369 probably null Het
Abhd17b T C 19: 21,678,432 L26P probably damaging Het
Abtb1 A G 6: 88,836,535 V407A probably benign Het
Adamts17 C A 7: 67,047,459 probably null Het
Arhgap21 G T 2: 20,860,039 probably null Het
Brwd1 T C 16: 96,019,456 D1290G probably damaging Het
Btbd6 A G 12: 112,976,969 T49A probably damaging Het
Carmil1 C T 13: 24,075,716 V702I possibly damaging Het
D230025D16Rik C T 8: 105,234,546 A71V possibly damaging Het
Dclre1a T A 19: 56,544,293 N623I possibly damaging Het
Dnah9 A T 11: 66,080,488 probably benign Het
Emc1 T C 4: 139,375,464 F978S probably damaging Het
Fam185a G A 5: 21,480,394 V363I possibly damaging Het
Iglc2 G T 16: 19,198,647 S69R probably damaging Het
Ints5 T C 19: 8,895,712 V345A probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lrba A G 3: 86,780,262 R2825G probably damaging Het
Map1a A G 2: 121,307,313 E2870G probably damaging Het
Olfr1233 G T 2: 89,339,684 T206K probably benign Het
Olfr1287 A G 2: 111,449,862 T241A probably benign Het
Olfr259 C T 2: 87,107,441 probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcsk1 C A 13: 75,105,959 T210K probably damaging Het
Slco5a1 A G 1: 12,871,995 V809A probably benign Het
Synm T C 7: 67,734,396 T1173A probably damaging Het
Tbc1d9b T C 11: 50,149,757 I367T probably damaging Het
Tmem169 T A 1: 72,300,955 Y181* probably null Het
Trp73 G T 4: 154,064,428 F289L probably null Het
Ttll9 A G 2: 153,000,135 Y303C probably damaging Het
Ubr4 G T 4: 139,455,628 E3577* probably null Het
Zbtb3 T G 19: 8,803,365 V114G 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
IGL02686:Cts8 APN 13 61250970 missense probably benign 0.09
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
X0062:Cts8 UTSW 13 61251008 missense possibly damaging 0.85
Posted On2015-04-16