Incidental Mutation 'IGL03224:Cts6'
ID 413722
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 # IGL03224
Quality Score
Status
Chromosome 13
Chromosomal Location 61342961-61351206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61349547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 82 (D82G)
Ref Sequence ENSEMBL: ENSMUSP00000021890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021890]
AlphaFold Q9ET52
Predicted Effect probably damaging
Transcript: ENSMUST00000021890
AA Change: D82G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021890
Gene: ENSMUSG00000021441
AA Change: D82G

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T C 3: 88,942,575 (GRCm39) probably benign Het
Capn10 T G 1: 92,867,046 (GRCm39) V92G probably damaging Het
Cntn2 A G 1: 132,450,780 (GRCm39) C532R probably damaging Het
Csf1r T C 18: 61,245,134 (GRCm39) F233L probably damaging Het
Cym T C 3: 107,126,048 (GRCm39) S72G possibly damaging Het
Cyp4a29 T A 4: 115,104,247 (GRCm39) M105K probably damaging Het
Dhx35 T C 2: 158,699,052 (GRCm39) probably benign Het
Dnah5 C A 15: 28,459,300 (GRCm39) D4506E probably damaging Het
Dok5 T C 2: 170,674,807 (GRCm39) F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 (GRCm39) D2974G probably benign Het
Frem3 C T 8: 81,340,092 (GRCm39) T795I probably damaging Het
Ints6l A G X: 55,543,287 (GRCm39) T525A probably damaging Het
Lrp1b T C 2: 41,361,043 (GRCm39) T587A possibly damaging Het
Meikin A G 11: 54,289,286 (GRCm39) M220V probably benign Het
Mmp12 T A 9: 7,350,002 (GRCm39) probably benign Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Myo3b A G 2: 70,180,283 (GRCm39) Y1190C probably benign Het
Myo5c A G 9: 75,185,525 (GRCm39) K963E probably benign Het
Nipbl T C 15: 8,322,569 (GRCm39) D2614G probably damaging Het
Ppp1r3f A G X: 7,426,821 (GRCm39) V480A probably benign Het
Prkcb A T 7: 122,116,147 (GRCm39) K209* probably null Het
Rasgef1a A G 6: 118,066,767 (GRCm39) probably benign Het
Ryr3 A T 2: 112,784,681 (GRCm39) C233* probably null Het
Scn8a A G 15: 100,933,520 (GRCm39) R1534G probably damaging Het
Slitrk3 A T 3: 72,957,263 (GRCm39) L503H possibly damaging Het
Spag17 A G 3: 99,918,156 (GRCm39) K380E possibly damaging Het
Spata31d1a A G 13: 59,848,840 (GRCm39) V1096A possibly damaging Het
Synrg C T 11: 83,930,492 (GRCm39) T1278M possibly damaging Het
Teddm1a G T 1: 153,767,763 (GRCm39) V76F possibly damaging Het
Troap A G 15: 98,979,758 (GRCm39) T365A probably benign Het
Vps35l A G 7: 118,391,776 (GRCm39) 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
IGL03071:Cts6 APN 13 61,350,064 (GRCm39) missense probably damaging 0.97
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