Incidental Mutation 'R0591:BC051665'
ID 55998
Institutional Source Beutler Lab
Gene Symbol BC051665
Ensembl Gene ENSMUSG00000042243
Gene Name cDNA sequence BC051665
Synonyms cathepsin L-like
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 60929701-60934178 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 60932422 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: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably 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
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
R2346:BC051665 UTSW 13 60,931,774 (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'- GGTGGACAGTGATACCTGGAATGTG -3'
(R):5'- GGTGGACAGATACCCTTGGTTCTTG -3'

Sequencing Primer
(F):5'- CTGGTCTTTCACAGGAGTCACATAG -3'
(R):5'- CCCACTGAGGGAACTAATGCTG -3'
Posted On 2013-07-11