Incidental Mutation 'IGL01746:Ctsm'
ID153009
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? Probably non essential (E-score: 0.077) question?
Stock #IGL01746
Quality Score
Status
Chromosome13
Chromosomal Location61535743-61541839 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61539816 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 76 (E76G)
Ref Sequence ENSEMBL: ENSMUSP00000153101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099451] [ENSMUST00000223778] [ENSMUST00000225268] [ENSMUST00000225902]
Predicted Effect probably benign
Transcript: ENSMUST00000099451
AA Change: E76G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: E76G

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: E76G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225268
Predicted Effect probably benign
Transcript: ENSMUST00000225902
Predicted Effect probably benign
Transcript: ENSMUST00000225965
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,004,912 M1187V possibly damaging Het
Egfl8 T C 17: 34,614,916 T63A probably damaging Het
Fat4 T A 3: 38,991,731 C3966* probably null Het
Fsd2 T C 7: 81,553,007 T275A probably benign Het
Fyb2 A T 4: 104,945,207 H102L probably benign Het
Galnt9 T C 5: 110,588,322 I168T probably damaging Het
Hc A G 2: 35,057,326 Y59H probably damaging Het
Khnyn T C 14: 55,886,982 V231A probably benign Het
Larp4b T A 13: 9,158,124 V378E probably damaging Het
Lbx1 A T 19: 45,233,775 S270T possibly damaging Het
Mcm6 G A 1: 128,353,524 R101* probably null Het
Mcph1 T C 8: 18,671,127 L657P probably damaging Het
Ndst2 G T 14: 20,729,414 P253T probably benign Het
Nek4 G A 14: 30,977,584 probably null Het
Nsd1 T A 13: 55,276,515 probably null Het
Oc90 A G 15: 65,889,401 probably benign Het
Plcl2 T A 17: 50,607,696 S578T probably benign Het
Ranbp3l T A 15: 9,063,087 C325* probably null Het
Rps19bp1 T C 15: 80,260,997 Y140C probably damaging Het
Sec62 T A 3: 30,814,246 I208K probably benign Het
Slc25a48 T A 13: 56,470,353 F268I probably damaging Het
Slc35e3 T C 10: 117,744,902 T166A possibly damaging Het
Tmem253 G A 14: 52,017,157 W23* probably null Het
Tmem97 T C 11: 78,542,760 Y103C probably damaging Het
Traf6 A G 2: 101,696,892 E329G possibly damaging Het
Ttll12 A G 15: 83,578,676 F530L probably damaging Het
Ugt3a2 C T 15: 9,361,668 P177S probably damaging Het
Veph1 T C 3: 66,158,087 T520A probably benign Het
Vmn2r98 T A 17: 19,066,451 Y404N probably damaging Het
Other mutations in Ctsm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01460:Ctsm APN 13 61539036 missense probably damaging 1.00
IGL01487:Ctsm APN 13 61539069 missense probably benign 0.08
IGL01647:Ctsm APN 13 61540273 missense probably benign 0.11
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
Posted On2014-02-04