Incidental Mutation 'IGL03351:Cts7'
ID 419694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts7
Ensembl Gene ENSMUSG00000021440
Gene Name cathepsin 7
Synonyms Epcs24, Epcs71, CTS1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL03351
Quality Score
Status
Chromosome 13
Chromosomal Location 61352461-61358197 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61356603 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 49 (R49G)
Ref Sequence ENSEMBL: ENSMUSP00000153508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021892] [ENSMUST00000224773] [ENSMUST00000224986] [ENSMUST00000225321]
AlphaFold Q91ZF2
Predicted Effect probably damaging
Transcript: ENSMUST00000021892
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: R49G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 2.02e-15 SMART
Pept_C1 112 330 6.25e-110 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000224773
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224986
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225321
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in Cts7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Cts7 APN 13 61356909 critical splice donor site probably null
IGL01954:Cts7 APN 13 61352823 missense probably benign 0.06
IGL01973:Cts7 APN 13 61355600 missense probably benign 0.02
IGL02098:Cts7 APN 13 61356529 missense probably damaging 1.00
IGL02716:Cts7 APN 13 61356608 missense probably benign 0.01
IGL02903:Cts7 APN 13 61356626 splice site probably benign
PIT4305001:Cts7 UTSW 13 61356572 missense probably damaging 1.00
R0691:Cts7 UTSW 13 61355734 missense probably damaging 1.00
R1168:Cts7 UTSW 13 61353817 missense probably damaging 0.99
R1711:Cts7 UTSW 13 61352810 missense probably damaging 1.00
R2352:Cts7 UTSW 13 61352772 nonsense probably null
R2442:Cts7 UTSW 13 61355617 nonsense probably null
R3817:Cts7 UTSW 13 61356536 missense probably damaging 0.98
R5513:Cts7 UTSW 13 61355584 missense possibly damaging 0.70
R5870:Cts7 UTSW 13 61355731 missense probably damaging 0.99
R6286:Cts7 UTSW 13 61352770 missense probably damaging 1.00
R6288:Cts7 UTSW 13 61352770 missense probably damaging 1.00
R6479:Cts7 UTSW 13 61355641 missense probably benign 0.00
R6653:Cts7 UTSW 13 61355003 missense probably damaging 1.00
R6721:Cts7 UTSW 13 61356294 missense probably damaging 1.00
R7246:Cts7 UTSW 13 61355580 missense probably damaging 0.99
R7644:Cts7 UTSW 13 61356968 nonsense probably null
R7939:Cts7 UTSW 13 61356550 missense probably damaging 1.00
R8336:Cts7 UTSW 13 61356909 critical splice donor site probably null
Z1177:Cts7 UTSW 13 61355632 missense probably benign 0.19
Posted On 2016-08-02