Incidental Mutation 'IGL01487:Ctsm'
ID88765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsm
Ensembl Gene ENSMUSG00000074871
Gene Namecathepsin M
Synonyms1600027J17Rik, Catm, Cat M
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01487
Quality Score
Status
Chromosome13
Chromosomal Location61535743-61541839 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 61539069 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 3 (R3L)
Ref Sequence ENSEMBL: ENSMUSP00000152924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099451] [ENSMUST00000223778] [ENSMUST00000225268] [ENSMUST00000225902]
Predicted Effect probably benign
Transcript: ENSMUST00000099451
AA Change: R153L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: R153L

DomainStartEndE-ValueType
Inhibitor_I29 29 88 4.63e-24 SMART
Pept_C1 114 332 2.05e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223778
AA Change: R153L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000225268
Predicted Effect probably benign
Transcript: ENSMUST00000225902
AA Change: R3L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225965
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,839,449 V121A probably damaging Het
Carf A G 1: 60,109,379 H17R probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Dnah3 G A 7: 119,965,530 Q2626* probably null Het
Dpp3 C T 19: 4,913,892 V587I probably benign Het
Fank1 A G 7: 133,879,909 T245A probably damaging Het
Golga5 A G 12: 102,495,696 probably benign Het
Hoxb9 C T 11: 96,274,788 Q228* probably null Het
Invs A G 4: 48,398,136 I441V probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Psd3 T C 8: 67,697,114 E1243G probably benign Het
Rapgefl1 C T 11: 98,847,135 H392Y probably damaging Het
Ropn1 T C 16: 34,678,469 V209A probably damaging Het
Scap G A 9: 110,377,734 probably null Het
Scn5a A G 9: 119,562,623 M1T probably null Het
Serpinb11 A T 1: 107,379,838 Y333F probably benign Het
Sf3b3 A G 8: 110,817,660 Y783H probably benign Het
Slc4a4 A G 5: 89,228,856 M990V probably benign Het
Syt3 G T 7: 44,390,999 V219F possibly damaging Het
Tmtc4 A G 14: 122,926,031 L647S probably benign Het
Other mutations in Ctsm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01460:Ctsm APN 13 61539036 missense probably damaging 1.00
IGL01647:Ctsm APN 13 61540273 missense probably benign 0.11
IGL01746:Ctsm APN 13 61539816 missense probably benign 0.07
IGL01746:Ctsm APN 13 61538903 splice site probably benign
IGL01908:Ctsm APN 13 61537787 missense probably benign 0.29
IGL02315:Ctsm APN 13 61539648 missense probably benign
FR4548:Ctsm UTSW 13 61537837 frame shift probably null
FR4976:Ctsm UTSW 13 61537836 frame shift probably null
R0613:Ctsm UTSW 13 61539682 missense probably damaging 0.97
R1631:Ctsm UTSW 13 61538435 missense possibly damaging 0.46
R3004:Ctsm UTSW 13 61539868 missense possibly damaging 0.60
R3741:Ctsm UTSW 13 61539627 missense probably benign 0.02
R4631:Ctsm UTSW 13 61537696 missense probably null 1.00
R4889:Ctsm UTSW 13 61538401 missense probably damaging 1.00
R4989:Ctsm UTSW 13 61538962 missense probably damaging 1.00
R5478:Ctsm UTSW 13 61537729 missense probably benign 0.01
R6994:Ctsm UTSW 13 61539884 missense probably damaging 1.00
R7479:Ctsm UTSW 13 61537755 missense probably damaging 1.00
Posted On2013-11-18