Incidental Mutation 'IGL01449:BC051665'
ID84544
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: 0.201) question?
Stock #IGL01449
Quality Score
Status
Chromosome13
Chromosomal Location60781887-60786364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60782704 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
Ref Sequence ENSEMBL: ENSMUSP00000026078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026078]
Predicted Effect probably damaging
Transcript: ENSMUST00000026078
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: V278A

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
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in BC051665
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:BC051665 APN 13 60785012 splice site probably benign
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 On2013-11-11