Incidental Mutation 'IGL03282:Cts6'
ID 415613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts6
Ensembl Gene ENSMUSG00000021441
Gene Name cathepsin 6
Synonyms 1600022N02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03282
Quality Score
Status
Chromosome 13
Chromosomal Location 61342961-61351206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61344261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 264 (I264F)
Ref Sequence ENSEMBL: ENSMUSP00000021890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021890]
AlphaFold Q9ET52
Predicted Effect possibly damaging
Transcript: ENSMUST00000021890
AA Change: I264F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: I264F

DomainStartEndE-ValueType
Inhibitor_I29 29 88 3.17e-22 SMART
Pept_C1 115 333 9.61e-111 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl1 A G 12: 70,001,238 (GRCm39) I333M possibly damaging Het
Atxn2 A G 5: 121,923,298 (GRCm39) T52A probably benign Het
Atxn7 T A 14: 14,100,564 (GRCm38) L750H probably damaging Het
Cadps T C 14: 12,465,856 (GRCm38) probably benign Het
Dnah6 G T 6: 73,030,630 (GRCm39) probably benign Het
Epg5 A G 18: 78,029,641 (GRCm39) S1335G probably benign Het
Gm10073 A T 8: 107,299,972 (GRCm39) V4D probably benign Het
Gpld1 T A 13: 25,155,391 (GRCm39) M342K probably benign Het
Herc1 T A 9: 66,358,741 (GRCm39) F2607L probably benign Het
Ighv2-9-1 T C 12: 113,733,485 (GRCm39) Y112C probably damaging Het
Itga4 A T 2: 79,155,938 (GRCm39) H968L probably damaging Het
Me1 C T 9: 86,495,649 (GRCm39) R286Q probably damaging Het
Med1 G A 11: 98,047,643 (GRCm39) T1051M probably damaging Het
Msh2 T G 17: 87,996,430 (GRCm39) D379E probably benign Het
Mup4 T A 4: 59,958,547 (GRCm39) M118L possibly damaging Het
Ostm1 A T 10: 42,574,227 (GRCm39) S152C probably damaging Het
Pla2g1b A G 5: 115,608,939 (GRCm39) N45D probably damaging Het
Rab21 A G 10: 115,134,803 (GRCm39) probably benign Het
Rapgef4 G A 2: 72,036,096 (GRCm39) probably benign Het
Slc38a8 G T 8: 120,226,455 (GRCm39) N111K probably damaging Het
Snrnp35 A G 5: 124,628,372 (GRCm39) T62A probably damaging Het
Strn3 T C 12: 51,673,992 (GRCm39) I540V probably benign Het
Tgm1 A G 14: 55,948,527 (GRCm39) V208A probably damaging Het
Vmn1r62 A T 7: 5,678,547 (GRCm39) D76V possibly damaging Het
Vmn1r90 T A 7: 14,295,426 (GRCm39) H224L probably benign Het
Vmn1r90 A T 7: 14,296,093 (GRCm39) S2T possibly damaging Het
Other mutations in Cts6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Cts6 APN 13 61,346,153 (GRCm39) splice site probably benign
IGL00774:Cts6 APN 13 61,346,153 (GRCm39) splice site probably benign
IGL02237:Cts6 APN 13 61,345,313 (GRCm39) missense probably benign 0.01
IGL03071:Cts6 APN 13 61,350,064 (GRCm39) missense probably damaging 0.97
IGL03224:Cts6 APN 13 61,349,547 (GRCm39) missense probably damaging 1.00
R0086:Cts6 UTSW 13 61,344,271 (GRCm39) splice site probably benign
R0201:Cts6 UTSW 13 61,349,313 (GRCm39) nonsense probably null
R0238:Cts6 UTSW 13 61,349,633 (GRCm39) missense probably damaging 1.00
R0238:Cts6 UTSW 13 61,349,633 (GRCm39) missense probably damaging 1.00
R0401:Cts6 UTSW 13 61,346,153 (GRCm39) splice site probably benign
R0676:Cts6 UTSW 13 61,345,298 (GRCm39) splice site probably benign
R1471:Cts6 UTSW 13 61,344,194 (GRCm39) missense probably benign 0.00
R1594:Cts6 UTSW 13 61,346,181 (GRCm39) missense probably damaging 1.00
R1864:Cts6 UTSW 13 61,349,393 (GRCm39) missense probably benign 0.26
R1865:Cts6 UTSW 13 61,349,393 (GRCm39) missense probably benign 0.26
R1902:Cts6 UTSW 13 61,349,329 (GRCm39) nonsense probably null
R2097:Cts6 UTSW 13 61,343,259 (GRCm39) missense probably damaging 1.00
R2235:Cts6 UTSW 13 61,343,247 (GRCm39) missense probably damaging 1.00
R2829:Cts6 UTSW 13 61,349,311 (GRCm39) missense probably benign 0.01
R2910:Cts6 UTSW 13 61,344,215 (GRCm39) missense probably damaging 1.00
R3757:Cts6 UTSW 13 61,349,972 (GRCm39) nonsense probably null
R4460:Cts6 UTSW 13 61,343,272 (GRCm39) missense probably benign 0.25
R4553:Cts6 UTSW 13 61,345,407 (GRCm39) missense probably damaging 1.00
R4623:Cts6 UTSW 13 61,349,974 (GRCm39) missense possibly damaging 0.57
R4793:Cts6 UTSW 13 61,349,626 (GRCm39) missense probably benign 0.00
R4809:Cts6 UTSW 13 61,349,995 (GRCm39) missense probably damaging 1.00
R4849:Cts6 UTSW 13 61,349,415 (GRCm39) missense probably null
R4866:Cts6 UTSW 13 61,350,090 (GRCm39) critical splice acceptor site probably null
R5055:Cts6 UTSW 13 61,344,164 (GRCm39) missense probably damaging 1.00
R5590:Cts6 UTSW 13 61,349,626 (GRCm39) missense probably benign 0.00
R6236:Cts6 UTSW 13 61,344,192 (GRCm39) nonsense probably null
R6428:Cts6 UTSW 13 61,344,237 (GRCm39) missense probably damaging 0.96
R6501:Cts6 UTSW 13 61,344,149 (GRCm39) missense probably damaging 1.00
R6508:Cts6 UTSW 13 61,344,221 (GRCm39) missense probably damaging 1.00
R6643:Cts6 UTSW 13 61,349,607 (GRCm39) missense probably damaging 0.96
R7397:Cts6 UTSW 13 61,350,014 (GRCm39) missense possibly damaging 0.94
R8283:Cts6 UTSW 13 61,349,457 (GRCm39) missense probably damaging 0.99
R8329:Cts6 UTSW 13 61,343,282 (GRCm39) missense probably damaging 1.00
R9009:Cts6 UTSW 13 61,344,261 (GRCm39) missense probably benign 0.04
R9438:Cts6 UTSW 13 61,350,069 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02