Incidental Mutation 'R6414:Ctsll3'
ID 514881
Institutional Source Beutler Lab
Gene Symbol Ctsll3
Ensembl Gene ENSMUSG00000056728
Gene Name cathepsin L-like 3
Synonyms 2310051M13Rik
MMRRC Submission 044556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6414 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 60946064-60950658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60948113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 188 (F188S)
Ref Sequence ENSEMBL: ENSMUSP00000036801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043754]
AlphaFold Q3ULP7
Predicted Effect probably damaging
Transcript: ENSMUST00000043754
AA Change: F188S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036801
Gene: ENSMUSG00000056728
AA Change: F188S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 1.25e-20 SMART
Pept_C1 115 330 1.89e-127 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223578
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Alpk1 T C 3: 127,473,858 (GRCm39) D715G probably benign Het
Atg101 T A 15: 101,188,341 (GRCm39) C149S probably benign Het
Atp2c1 A T 9: 105,343,855 (GRCm39) I84N probably damaging Het
Ceacam20 C A 7: 19,710,056 (GRCm39) A360E probably damaging Het
Chd3 A T 11: 69,243,371 (GRCm39) probably null Het
Clcc1 G A 3: 108,584,167 (GRCm39) C517Y possibly damaging Het
Col6a5 T C 9: 105,769,465 (GRCm39) probably null Het
Ctnna3 T C 10: 64,096,644 (GRCm39) V394A probably benign Het
Cyth4 T C 15: 78,492,346 (GRCm39) V125A probably damaging Het
Ddx43 G A 9: 78,308,218 (GRCm39) V131I probably benign Het
Elp4 A G 2: 105,734,788 (GRCm39) S16P possibly damaging Het
Espl1 T A 15: 102,223,995 (GRCm39) V1182E probably damaging Het
Fhod3 T C 18: 25,223,935 (GRCm39) S1094P possibly damaging Het
Fmo6 A T 1: 162,748,014 (GRCm39) V350D probably damaging Het
Frem1 A G 4: 82,858,773 (GRCm39) F1545S probably damaging Het
Gata3 T A 2: 9,863,245 (GRCm39) H423L possibly damaging Het
Golt1a A T 1: 133,248,032 (GRCm39) M87L probably damaging Het
Gpr171 A T 3: 59,005,544 (GRCm39) V77E probably damaging Het
Hectd2 A G 19: 36,596,186 (GRCm39) D757G probably benign Het
Hmmr A G 11: 40,606,694 (GRCm39) probably null Het
Il31ra A G 13: 112,660,441 (GRCm39) V635A possibly damaging Het
Lama1 T C 17: 68,053,905 (GRCm39) probably null Het
Ltbp4 G A 7: 27,010,140 (GRCm39) P1140L probably damaging Het
Macf1 A G 4: 123,386,988 (GRCm39) L1210P possibly damaging Het
Meox2 A T 12: 37,158,830 (GRCm39) M1L probably benign Het
Mex3d A G 10: 80,217,205 (GRCm39) S671P unknown Het
Mrgprb2 C T 7: 48,202,129 (GRCm39) V199I probably benign Het
Mroh9 A T 1: 162,902,271 (GRCm39) V114E probably damaging Het
Muc5b A G 7: 141,412,834 (GRCm39) K1927E unknown Het
Or4f52 A C 2: 111,061,497 (GRCm39) probably null Het
Or6c35 T A 10: 129,169,578 (GRCm39) I276K probably benign Het
Otogl C T 10: 107,617,911 (GRCm39) C1734Y probably damaging Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh15 T A 10: 74,021,258 (GRCm39) N162K probably damaging Het
Pcdhb10 A C 18: 37,546,898 (GRCm39) H658P possibly damaging Het
Pgm2l1 G T 7: 99,904,747 (GRCm39) A160S possibly damaging Het
Prkag2 T A 5: 25,305,178 (GRCm39) probably benign Het
Rap1gap2 A G 11: 74,296,616 (GRCm39) L457P probably damaging Het
Rasef C T 4: 73,658,818 (GRCm39) V463M probably benign Het
Rb1 T C 14: 73,520,414 (GRCm39) S42G unknown Het
Reep3 C A 10: 66,875,356 (GRCm39) V36F probably damaging Het
Rhcg A G 7: 79,248,716 (GRCm39) probably null Het
Sbno1 T C 5: 124,533,994 (GRCm39) S661G probably benign Het
Slc25a3 T G 10: 90,958,190 (GRCm39) Q50P possibly damaging Het
Slc2a13 T A 15: 91,228,008 (GRCm39) I395F probably benign Het
Slc6a5 C T 7: 49,559,991 (GRCm39) probably benign Het
Snta1 G C 2: 154,219,987 (GRCm39) T391S possibly damaging Het
Spata7 T C 12: 98,629,479 (GRCm39) probably null Het
Stx17 A G 4: 48,158,809 (GRCm39) probably null Het
Terf2 A T 8: 107,803,486 (GRCm39) S365T probably benign Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trim8 A T 19: 46,491,346 (GRCm39) H155L probably benign Het
Wipi2 T A 5: 142,641,693 (GRCm39) V83D probably damaging Het
Zbtb47 T G 9: 121,592,725 (GRCm39) D348E probably benign Het
Zfp316 C A 5: 143,240,639 (GRCm39) R460L possibly damaging Het
Zfp799 C T 17: 33,039,259 (GRCm39) V336M probably damaging Het
Zfp947 A T 17: 22,365,395 (GRCm39) I93N probably damaging Het
Zranb3 A G 1: 127,968,694 (GRCm39) Y74H probably benign Het
Other mutations in Ctsll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Ctsll3 APN 13 60,946,756 (GRCm39) missense probably benign 0.03
IGL00903:Ctsll3 APN 13 60,948,075 (GRCm39) missense probably benign 0.18
IGL01341:Ctsll3 APN 13 60,946,813 (GRCm39) missense probably benign 0.00
IGL01464:Ctsll3 APN 13 60,948,134 (GRCm39) missense probably damaging 1.00
IGL02087:Ctsll3 APN 13 60,947,423 (GRCm39) missense possibly damaging 0.56
indolent UTSW 13 60,946,721 (GRCm39) critical splice donor site probably null
PIT4504001:Ctsll3 UTSW 13 60,948,823 (GRCm39) missense probably benign 0.32
R0145:Ctsll3 UTSW 13 60,946,409 (GRCm39) missense probably damaging 1.00
R0427:Ctsll3 UTSW 13 60,949,205 (GRCm39) missense probably benign 0.18
R1463:Ctsll3 UTSW 13 60,949,089 (GRCm39) splice site probably benign
R1551:Ctsll3 UTSW 13 60,948,821 (GRCm39) nonsense probably null
R1695:Ctsll3 UTSW 13 60,948,791 (GRCm39) missense probably damaging 1.00
R1969:Ctsll3 UTSW 13 60,948,162 (GRCm39) missense probably benign 0.00
R2168:Ctsll3 UTSW 13 60,948,749 (GRCm39) missense possibly damaging 0.85
R4662:Ctsll3 UTSW 13 60,947,416 (GRCm39) missense possibly damaging 0.68
R4783:Ctsll3 UTSW 13 60,948,209 (GRCm39) missense probably damaging 1.00
R5327:Ctsll3 UTSW 13 60,946,721 (GRCm39) critical splice donor site probably null
R5547:Ctsll3 UTSW 13 60,948,551 (GRCm39) missense probably benign 0.01
R5743:Ctsll3 UTSW 13 60,948,815 (GRCm39) missense probably benign 0.01
R5937:Ctsll3 UTSW 13 60,947,410 (GRCm39) missense probably damaging 1.00
R7397:Ctsll3 UTSW 13 60,948,532 (GRCm39) missense probably benign 0.05
R7755:Ctsll3 UTSW 13 60,948,219 (GRCm39) missense probably damaging 1.00
R8421:Ctsll3 UTSW 13 60,948,595 (GRCm39) missense probably damaging 1.00
R9285:Ctsll3 UTSW 13 60,946,402 (GRCm39) missense probably benign 0.31
X0065:Ctsll3 UTSW 13 60,949,098 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACGAGCCTGCAAAGGATGAC -3'
(R):5'- TGTCGTGAGATTTGCTGAGAAAAC -3'

Sequencing Primer
(F):5'- CCTGCAAAGGATGACATTAATGGC -3'
(R):5'- CGTGAGATTTGCTGAGAAAACATCTG -3'
Posted On 2018-05-04