Incidental Mutation 'R2346:BC051665'
ID 245959
Institutional Source Beutler Lab
Gene Symbol BC051665
Ensembl Gene ENSMUSG00000042243
Gene Name cDNA sequence BC051665
Synonyms cathepsin L-like
MMRRC Submission 040329-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R2346 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 60929701-60934178 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 60931774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026078]
AlphaFold E9Q623
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (21/21)
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Dnm2 T C 9: 21,378,852 (GRCm39) L137P probably damaging Het
Elf2 A G 3: 51,164,865 (GRCm39) S380P probably benign Het
Fbxw15 T C 9: 109,394,500 (GRCm39) Y105C probably damaging Het
Gm12588 T C 11: 121,796,994 (GRCm39) Y285C probably benign Het
Gm21276 T A 7: 38,467,575 (GRCm39) noncoding transcript Het
Kat2b A G 17: 53,917,932 (GRCm39) N97S probably benign Het
Mus81 A G 19: 5,534,991 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or8a1b T C 9: 37,622,661 (GRCm39) R305G possibly damaging Het
Pkhd1l1 C A 15: 44,423,902 (GRCm39) A3148E possibly damaging Het
Prkar2b T C 12: 32,022,149 (GRCm39) N212S probably benign Het
Rp1 T A 1: 4,418,236 (GRCm39) T959S probably damaging Het
Samd4 G A 14: 47,122,299 (GRCm39) G8R probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skiv2l-ps1 A G 17: 34,989,076 (GRCm39) noncoding transcript Het
Vmn1r20 A G 6: 57,408,931 (GRCm39) M86V possibly damaging Het
Vwa1 A G 4: 155,857,526 (GRCm39) Y91H probably benign Het
Zan A G 5: 137,420,129 (GRCm39) S2843P unknown Het
Zbtb39 A T 10: 127,577,450 (GRCm39) Q8L possibly damaging Het
Other mutations in BC051665
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:BC051665 APN 13 60,930,518 (GRCm39) missense probably damaging 1.00
IGL02730:BC051665 APN 13 60,932,826 (GRCm39) splice site probably benign
IGL02901:BC051665 APN 13 60,932,532 (GRCm39) missense probably damaging 1.00
IGL03221:BC051665 APN 13 60,932,242 (GRCm39) nonsense probably null
PIT4519001:BC051665 UTSW 13 60,931,989 (GRCm39) missense possibly damaging 0.93
R0486:BC051665 UTSW 13 60,931,859 (GRCm39) missense probably damaging 0.99
R0591:BC051665 UTSW 13 60,932,422 (GRCm39) splice site probably benign
R1238:BC051665 UTSW 13 60,932,451 (GRCm39) missense probably damaging 1.00
R1442:BC051665 UTSW 13 60,932,555 (GRCm39) missense probably benign 0.01
R1572:BC051665 UTSW 13 60,932,841 (GRCm39) missense probably damaging 1.00
R1766:BC051665 UTSW 13 60,932,854 (GRCm39) missense probably benign 0.00
R2176:BC051665 UTSW 13 60,932,344 (GRCm39) splice site probably benign
R2504:BC051665 UTSW 13 60,930,468 (GRCm39) missense probably benign 0.06
R2980:BC051665 UTSW 13 60,932,209 (GRCm39) missense probably damaging 0.99
R3026:BC051665 UTSW 13 60,932,521 (GRCm39) missense probably damaging 1.00
R3751:BC051665 UTSW 13 60,931,145 (GRCm39) missense probably damaging 1.00
R4846:BC051665 UTSW 13 60,931,895 (GRCm39) missense probably damaging 1.00
R5554:BC051665 UTSW 13 60,932,435 (GRCm39) missense probably damaging 0.98
R5856:BC051665 UTSW 13 60,932,314 (GRCm39) missense probably benign 0.00
R5898:BC051665 UTSW 13 60,930,518 (GRCm39) missense probably damaging 1.00
R6707:BC051665 UTSW 13 60,932,222 (GRCm39) missense probably benign 0.00
R6977:BC051665 UTSW 13 60,932,486 (GRCm39) nonsense probably null
R7238:BC051665 UTSW 13 60,930,536 (GRCm39) missense probably benign 0.30
R7460:BC051665 UTSW 13 60,932,457 (GRCm39) missense probably benign 0.19
R7798:BC051665 UTSW 13 60,932,249 (GRCm39) missense probably benign 0.06
R8947:BC051665 UTSW 13 60,930,004 (GRCm39) missense probably damaging 1.00
R9120:BC051665 UTSW 13 60,932,916 (GRCm39) missense probably benign 0.00
R9645:BC051665 UTSW 13 60,932,545 (GRCm39) missense possibly damaging 0.77
Z1088:BC051665 UTSW 13 60,932,457 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCAGCTACGTGGAAACTACAG -3'
(R):5'- GTGTGGGTGACAACCTTTTC -3'

Sequencing Primer
(F):5'- GCTACGTGGAAACTACAGAAATC -3'
(R):5'- GTGGGTGACAACCTTTTCTTTCTTC -3'
Posted On 2014-10-30