Incidental Mutation 'IGL02730:BC051665'
ID305434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC051665
Ensembl Gene ENSMUSG00000042243
Gene NamecDNA sequence BC051665
Synonymscathepsin L-like
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL02730
Quality Score
Status
Chromosome13
Chromosomal Location60781887-60786364 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 60785012 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026078]
Predicted Effect probably benign
Transcript: ENSMUST00000026078
SMART Domains Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 6.16e-20 SMART
Pept_C1 114 329 2.04e-123 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,166,149 probably benign Het
Ankib1 A T 5: 3,702,995 V651E probably damaging Het
Ces1d C T 8: 93,186,016 G265S probably benign Het
Dsg1c A C 18: 20,274,830 D411A probably damaging Het
Exosc5 T C 7: 25,663,197 I70T possibly damaging Het
Fgf20 T A 8: 40,279,787 L203F probably damaging Het
Gm14025 T C 2: 129,038,726 T427A possibly damaging Het
Gpsm1 T A 2: 26,325,378 V316E probably benign Het
Gtpbp1 T A 15: 79,719,171 D620E probably benign Het
Hs6st1 A G 1: 36,103,628 T215A probably damaging Het
Irgm2 T A 11: 58,219,990 M169K probably benign Het
Kcns3 A G 12: 11,092,075 S208P probably benign Het
Klra6 T C 6: 130,022,697 T103A probably benign Het
Lrba T A 3: 86,328,199 M870K probably damaging Het
Mapk1ip1l C T 14: 47,310,920 T175I possibly damaging Het
Meig1 A G 2: 3,411,910 Y25H probably damaging Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4b T C 7: 10,714,758 F296S probably damaging Het
Olfr1040 C T 2: 86,146,099 V212M probably benign Het
Olfr109 T A 17: 37,466,859 Y218N probably damaging Het
Olfr1138 T A 2: 87,737,641 I228F probably damaging Het
Olfr1336 T C 7: 6,461,124 I205T possibly damaging Het
Olfr149 C T 9: 39,702,238 C177Y probably damaging Het
Olfr164 T A 16: 19,286,682 L20F probably benign Het
Olfr281 A G 15: 98,456,436 N42S probably damaging Het
Olfr293 T C 7: 86,664,067 L135P probably damaging Het
Pds5b A G 5: 150,780,752 probably benign Het
Plekhg1 A G 10: 3,873,242 D70G possibly damaging Het
Rubcnl C T 14: 75,050,148 T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 H317Y probably benign Het
Sec22a T C 16: 35,314,100 D282G probably damaging Het
Serpina3a T C 12: 104,119,663 F126L probably damaging Het
Serpinc1 A G 1: 161,000,028 D399G probably damaging Het
Sorcs2 A G 5: 36,062,552 Y383H probably benign Het
Speer3 T A 5: 13,793,271 M64K probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stx1b C A 7: 127,815,377 R25L probably benign Het
Syt5 A G 7: 4,542,357 V181A probably damaging Het
Tspoap1 G T 11: 87,781,709 V1788F probably damaging Het
Vmn1r233 A G 17: 20,993,795 S298P possibly damaging Het
Xntrpc T C 7: 102,082,112 S353P probably damaging Het
Other mutations in BC051665
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:BC051665 APN 13 60782704 missense probably damaging 1.00
IGL02901:BC051665 APN 13 60784718 missense probably damaging 1.00
IGL03221:BC051665 APN 13 60784428 nonsense probably null
PIT4519001:BC051665 UTSW 13 60784175 missense possibly damaging 0.93
R0486:BC051665 UTSW 13 60784045 missense probably damaging 0.99
R0591:BC051665 UTSW 13 60784608 splice site probably benign
R1238:BC051665 UTSW 13 60784637 missense probably damaging 1.00
R1442:BC051665 UTSW 13 60784741 missense probably benign 0.01
R1572:BC051665 UTSW 13 60785027 missense probably damaging 1.00
R1766:BC051665 UTSW 13 60785040 missense probably benign 0.00
R2176:BC051665 UTSW 13 60784530 splice site probably benign
R2346:BC051665 UTSW 13 60783960 splice site probably benign
R2504:BC051665 UTSW 13 60782654 missense probably benign 0.06
R2980:BC051665 UTSW 13 60784395 missense probably damaging 0.99
R3026:BC051665 UTSW 13 60784707 missense probably damaging 1.00
R3751:BC051665 UTSW 13 60783331 missense probably damaging 1.00
R4846:BC051665 UTSW 13 60784081 missense probably damaging 1.00
R5554:BC051665 UTSW 13 60784621 missense probably damaging 0.98
R5856:BC051665 UTSW 13 60784500 missense probably benign 0.00
R5898:BC051665 UTSW 13 60782704 missense probably damaging 1.00
R6707:BC051665 UTSW 13 60784408 missense probably benign 0.00
R6977:BC051665 UTSW 13 60784672 nonsense probably null
R7238:BC051665 UTSW 13 60782722 missense probably benign 0.30
R7460:BC051665 UTSW 13 60784643 missense probably benign 0.19
R7798:BC051665 UTSW 13 60784435 missense probably benign 0.06
Z1088:BC051665 UTSW 13 60784643 missense probably benign 0.09
Posted On2015-04-16