Incidental Mutation 'IGL01954:Cts7'
ID181384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts7
Ensembl Gene ENSMUSG00000021440
Gene Namecathepsin 7
SynonymsEpcs24, Epcs71, CTS1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL01954
Quality Score
Status
Chromosome13
Chromosomal Location61352461-61358197 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61352823 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 303 (R303S)
Ref Sequence ENSEMBL: ENSMUSP00000153603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021892] [ENSMUST00000224773] [ENSMUST00000224986] [ENSMUST00000225321]
Predicted Effect probably benign
Transcript: ENSMUST00000021892
AA Change: R303S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: R303S

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 benign
Transcript: ENSMUST00000224773
Predicted Effect probably benign
Transcript: ENSMUST00000224986
AA Change: R303S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225321
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T A 1: 93,152,072 D432V probably damaging Het
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Ppp2r3c A G 12: 55,292,568 L170P probably damaging Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Serinc5 A G 13: 92,682,933 N125S probably damaging Het
Sgpl1 A T 10: 61,100,893 M561K probably benign Het
Sostdc1 T C 12: 36,317,122 V99A probably damaging Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in Cts7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Cts7 APN 13 61356909 critical splice donor site probably null
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
IGL03351:Cts7 APN 13 61356603 missense probably damaging 1.00
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
Posted On2014-05-07