Incidental Mutation 'IGL03071:Cts6'
ID 417510
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 # IGL03071
Quality Score
Status
Chromosome 13
Chromosomal Location 61342961-61351206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61350064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 6 (F6I)
Ref Sequence ENSEMBL: ENSMUSP00000021890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021890]
AlphaFold Q9ET52
Predicted Effect probably damaging
Transcript: ENSMUST00000021890
AA Change: F6I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: F6I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,104 (GRCm39) L165H probably benign Het
Ahnak T C 19: 8,989,282 (GRCm39) I3522T possibly damaging Het
Anks1 G A 17: 28,227,173 (GRCm39) A609T probably benign Het
Apaf1 T C 10: 90,833,117 (GRCm39) D1138G possibly damaging Het
Appl2 T C 10: 83,476,970 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,313 (GRCm39) I385F possibly damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Ccdc134 G A 15: 82,018,826 (GRCm39) V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Clec2d T C 6: 129,160,165 (GRCm39) S60P probably benign Het
Cyyr1 G A 16: 85,262,449 (GRCm39) H103Y probably damaging Het
Dop1a T A 9: 86,371,668 (GRCm39) S120T possibly damaging Het
Dot1l T C 10: 80,624,513 (GRCm39) S994P probably benign Het
Eya4 T G 10: 23,198,971 (GRCm39) D3A probably benign Het
Fhip2b A G 14: 70,823,649 (GRCm39) C574R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gria1 A T 11: 56,902,936 (GRCm39) probably null Het
Hectd1 T C 12: 51,815,957 (GRCm39) T1377A probably benign Het
Magi3 T G 3: 103,923,202 (GRCm39) K1172Q possibly damaging Het
Map3k1 A C 13: 111,892,059 (GRCm39) D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,717,158 (GRCm39) V242D probably damaging Het
Mrgpra3 T C 7: 47,238,929 (GRCm39) probably benign Het
Mroh9 C A 1: 162,866,766 (GRCm39) G657C probably damaging Het
Ogfod1 T C 8: 94,784,395 (GRCm39) W318R probably damaging Het
Or10j5 A G 1: 172,784,502 (GRCm39) T47A probably benign Het
Pacsin3 G A 2: 91,090,837 (GRCm39) R48H probably damaging Het
Plcb1 A G 2: 135,229,722 (GRCm39) E1114G probably damaging Het
Prkdc T G 16: 15,617,848 (GRCm39) D3226E probably benign Het
Prl4a1 A T 13: 28,204,246 (GRCm39) E96V probably benign Het
Robo4 T C 9: 37,315,580 (GRCm39) probably benign Het
Scn7a G A 2: 66,530,291 (GRCm39) L685F possibly damaging Het
Spata1 A G 3: 146,181,089 (GRCm39) Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tifa T G 3: 127,590,728 (GRCm39) Y166* probably null Het
Tnfsf10 G A 3: 27,389,769 (GRCm39) D277N probably damaging Het
Tram1 A T 1: 13,649,998 (GRCm39) Y75* probably null Het
Vmn1r60 T A 7: 5,547,368 (GRCm39) N244I probably damaging Het
Xpo4 A G 14: 57,855,685 (GRCm39) I248T possibly damaging Het
Zc2hc1a A G 3: 7,589,182 (GRCm39) probably benign Het
Zfp386 T A 12: 116,022,760 (GRCm39) H124Q probably benign 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
IGL03224:Cts6 APN 13 61,349,547 (GRCm39) missense probably damaging 1.00
IGL03282:Cts6 APN 13 61,344,261 (GRCm39) missense possibly damaging 0.56
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