Incidental Mutation 'R7238:BC051665'
ID 563024
Institutional Source Beutler Lab
Gene Symbol BC051665
Ensembl Gene ENSMUSG00000042243
Gene Name cDNA sequence BC051665
Synonyms cathepsin L-like
MMRRC Submission 045345-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R7238 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 60929701-60934178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60930536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 272 (T272I)
Ref Sequence ENSEMBL: ENSMUSP00000026078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026078]
AlphaFold E9Q623
Predicted Effect probably benign
Transcript: ENSMUST00000026078
AA Change: T272I

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: T272I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 97% (104/107)
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,775,712 (GRCm39) T1634S probably damaging Het
Adgrl1 T A 8: 84,665,693 (GRCm39) M1460K probably damaging Het
Adig T A 2: 158,347,773 (GRCm39) L29Q unknown Het
Adnp T G 2: 168,025,887 (GRCm39) K469N probably damaging Het
Akap3 A G 6: 126,842,200 (GRCm39) D273G probably benign Het
Albfm1 A T 5: 90,727,519 (GRCm39) Y379F probably damaging Het
Ankrd34b T C 13: 92,575,139 (GRCm39) Y124H possibly damaging Het
Ap2b1 T G 11: 83,223,948 (GRCm39) F221C possibly damaging Het
Atp2c2 A G 8: 120,469,160 (GRCm39) I358V possibly damaging Het
Cdan1 G T 2: 120,560,783 (GRCm39) A262E probably benign Het
Ces1d C T 8: 93,904,763 (GRCm39) V326I probably benign Het
Chd3 T C 11: 69,254,873 (GRCm39) R156G probably benign Het
Clip1 C T 5: 123,751,328 (GRCm39) E818K Het
Col6a4 C T 9: 105,877,519 (GRCm39) V2153M probably damaging Het
Crlf3 T C 11: 79,947,351 (GRCm39) N296D possibly damaging Het
Cstdc6 C T 16: 36,142,193 (GRCm39) G61D probably benign Het
D130052B06Rik A G 11: 33,573,594 (GRCm39) I109V probably benign Het
Dcaf5 G T 12: 80,385,483 (GRCm39) T881K probably benign Het
Dennd4a C A 9: 64,769,238 (GRCm39) T408K probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnah2 A G 11: 69,349,972 (GRCm39) probably null Het
Eif1ad8 A T 12: 87,564,006 (GRCm39) K114* probably null Het
Eif2ak2 C T 17: 79,173,760 (GRCm39) V273I probably benign Het
Elac1 C T 18: 73,872,359 (GRCm39) G212D probably damaging Het
Ercc6l2 A G 13: 64,013,798 (GRCm39) D623G probably damaging Het
Exo1 T C 1: 175,716,413 (GRCm39) F177L probably damaging Het
Fat4 A G 3: 38,944,562 (GRCm39) T1152A probably benign Het
Fbxl12 G T 9: 20,529,709 (GRCm39) probably null Het
Fbxo43 T C 15: 36,151,971 (GRCm39) Y582C probably damaging Het
Fsip2 T A 2: 82,812,484 (GRCm39) N2934K possibly damaging Het
Gna12 A G 5: 140,815,847 (GRCm39) S69P probably damaging Het
Gpatch8 C A 11: 102,369,354 (GRCm39) G1395C probably damaging Het
Gpr137c A G 14: 45,516,148 (GRCm39) Y294C probably damaging Het
Greb1 A G 12: 16,724,673 (GRCm39) S1834P probably damaging Het
Grin2b T C 6: 135,757,249 (GRCm39) D404G probably damaging Het
Hectd2 A T 19: 36,574,478 (GRCm39) N236I probably damaging Het
Hhip C T 8: 80,713,641 (GRCm39) V562I probably benign Het
Hipk2 G T 6: 38,692,992 (GRCm39) T867N probably benign Het
Hmgcl T C 4: 135,689,424 (GRCm39) V294A possibly damaging Het
Hnrnpl T A 7: 28,513,400 (GRCm39) F158I Het
Hspa5 T C 2: 34,662,383 (GRCm39) V17A unknown Het
Hspg2 T C 4: 137,235,704 (GRCm39) V168A probably damaging Het
Idh1 A G 1: 65,205,284 (GRCm39) F227S probably damaging Het
Iigp1c A G 18: 60,379,355 (GRCm39) S297G possibly damaging Het
Immp2l T C 12: 41,160,915 (GRCm39) V71A possibly damaging Het
Iqce G A 5: 140,675,713 (GRCm39) R193* probably null Het
Kcnq5 T C 1: 21,472,526 (GRCm39) D907G probably benign Het
Krt17 T A 11: 100,148,613 (GRCm39) T306S probably benign Het
Lhx3 T C 2: 26,093,009 (GRCm39) D149G probably damaging Het
Lrrc73 G A 17: 46,565,488 (GRCm39) R73H probably damaging Het
Mgat5b T C 11: 116,875,809 (GRCm39) S678P probably benign Het
Mink1 T C 11: 70,502,305 (GRCm39) probably null Het
Mroh5 T G 15: 73,663,278 (GRCm39) probably null Het
Muc5ac T A 7: 141,363,254 (GRCm39) H2188Q unknown Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Musk G A 4: 58,344,312 (GRCm39) G305D probably benign Het
Mx1 A G 16: 97,249,496 (GRCm39) I347T unknown Het
Mybbp1a G T 11: 72,334,338 (GRCm39) V198F probably damaging Het
Mycbp2 A G 14: 103,393,733 (GRCm39) S2943P probably damaging Het
Myo18a G A 11: 77,733,059 (GRCm39) R1363K probably damaging Het
Nav3 T A 10: 109,689,185 (GRCm39) D364V possibly damaging Het
Or13g1 T C 7: 85,955,799 (GRCm39) H174R probably damaging Het
Or14j6 T C 17: 38,215,328 (GRCm39) L297S probably benign Het
Or1e26 A T 11: 73,480,561 (GRCm39) M1K probably null Het
Or1j13 T A 2: 36,369,726 (GRCm39) N139Y possibly damaging Het
Or5k15 T A 16: 58,710,252 (GRCm39) E110D probably damaging Het
Pecr T C 1: 72,298,592 (GRCm39) D276G probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp1cb A T 5: 32,648,376 (GRCm39) T320S probably benign Het
Ppp1r9a G T 6: 5,159,716 (GRCm39) K1084N probably damaging Het
Prdm2 A G 4: 142,862,391 (GRCm39) S300P probably benign Het
Prkg1 C T 19: 30,602,090 (GRCm39) V389I probably damaging Het
Psg25 C T 7: 18,266,127 (GRCm39) probably benign Het
Ptpn6 A G 6: 124,698,821 (GRCm39) S498P possibly damaging Het
Pus3 A G 9: 35,477,965 (GRCm39) H399R probably benign Het
Pus7 T C 5: 23,983,450 (GRCm39) T6A probably benign Het
Rnf169 A G 7: 99,574,954 (GRCm39) V547A probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Ryr1 C T 7: 28,794,807 (GRCm39) D1194N probably benign Het
Scn5a T C 9: 119,320,610 (GRCm39) M1490V possibly damaging Het
Sec23b A G 2: 144,432,258 (GRCm39) D756G possibly damaging Het
Selenoo T A 15: 88,973,427 (GRCm39) M39K probably benign Het
Septin8 T G 11: 53,427,519 (GRCm39) V246G possibly damaging Het
Serpina3k T A 12: 104,309,367 (GRCm39) N270K probably damaging Het
Setd5 G A 6: 113,098,091 (GRCm39) R710H probably damaging Het
Sirt4 A T 5: 115,621,049 (GRCm39) I41N possibly damaging Het
Slc26a9 T A 1: 131,686,556 (GRCm39) Y425* probably null Het
Slc4a9 A G 18: 36,662,773 (GRCm39) E176G probably benign Het
Speer1m T C 5: 11,970,712 (GRCm39) I127T Het
Spidr A T 16: 15,784,680 (GRCm39) W463R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmcc1 G A 6: 116,111,198 (GRCm39) Q28* probably null Het
Tmem52b A G 6: 129,493,651 (GRCm39) E88G probably damaging Het
Trpc7 A T 13: 56,974,710 (GRCm39) I402K probably benign Het
Tshz3 T C 7: 36,469,522 (GRCm39) Y504H probably damaging Het
Ttn T C 2: 76,542,549 (GRCm39) E33479G possibly damaging Het
Ttn G A 2: 76,711,672 (GRCm39) R8290C unknown Het
Urb1 T C 16: 90,549,003 (GRCm39) D2235G possibly damaging Het
Usp10 T C 8: 120,668,283 (GRCm39) F195L probably benign Het
Vmn1r31 A T 6: 58,449,858 (GRCm39) F2L Het
Vmn2r109 C T 17: 20,761,336 (GRCm39) V674M probably damaging Het
Vmn2r12 G A 5: 109,245,655 (GRCm39) P26S possibly damaging Het
Vmn2r61 T A 7: 41,916,629 (GRCm39) M414K possibly damaging Het
Yipf3 T C 17: 46,562,585 (GRCm39) V330A probably benign Het
Zic4 A T 9: 91,261,450 (GRCm39) H235L probably benign Het
Zxdc T A 6: 90,346,642 (GRCm39) W16R unknown 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
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
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'- AAACTGTCAGATTCTTATCGCTACCC -3'
(R):5'- AGCTGATATCCCAAGCCTCG -3'

Sequencing Primer
(F):5'- TCAGATTCTTATCGCTACCCTAAAAC -3'
(R):5'- GCTAACACCAGTTCAGTCCTG -3'
Posted On 2019-06-26