Incidental Mutation 'IGL02901:BC051665'
ID363587
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: 0.172) question?
Stock #IGL02901
Quality Score
Status
Chromosome13
Chromosomal Location60781887-60786364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60784718 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 51 (V51E)
Ref Sequence ENSEMBL: ENSMUSP00000026078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026078]
Predicted Effect probably damaging
Transcript: ENSMUST00000026078
AA Change: V51E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: V51E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in BC051665
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:BC051665 APN 13 60782704 missense probably damaging 1.00
IGL02730:BC051665 APN 13 60785012 splice site probably benign
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 On2015-12-18