Incidental Mutation 'R3616:Lacc1'
ID 473040
Institutional Source Beutler Lab
Gene Symbol Lacc1
Ensembl Gene ENSMUSG00000044350
Gene Name laccase domain containing 1
Synonyms 9030625A04Rik
MMRRC Submission 040673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R3616 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 77261640-77274344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77270727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 269 (V269A)
Ref Sequence ENSEMBL: ENSMUSP00000059173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048208] [ENSMUST00000062789] [ENSMUST00000095625] [ENSMUST00000142300] [ENSMUST00000175810]
AlphaFold Q8BZT9
Predicted Effect probably benign
Transcript: ENSMUST00000048208
SMART Domains Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795

DomainStartEndE-ValueType
coiled coil region 33 102 N/A INTRINSIC
coiled coil region 152 182 N/A INTRINSIC
coiled coil region 209 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062789
AA Change: V269A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000059173
Gene: ENSMUSG00000044350
AA Change: V269A

DomainStartEndE-ValueType
Pfam:Cu-oxidase_4 195 427 1.1e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095625
SMART Domains Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795

DomainStartEndE-ValueType
coiled coil region 68 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139809
Predicted Effect probably benign
Transcript: ENSMUST00000142300
Predicted Effect probably benign
Transcript: ENSMUST00000175810
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (29/29)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fatty acid oxidation and glycolysis in macrophages and increased susceptibility to LPS-induced endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,257 (GRCm39) T818A probably benign Het
Aasdh A G 5: 77,036,629 (GRCm39) V304A probably benign Het
Angptl3 G A 4: 98,922,702 (GRCm39) A248T probably benign Het
Ap2b1 T A 11: 83,215,391 (GRCm39) C112S possibly damaging Het
Aqr A T 2: 113,967,368 (GRCm39) I549N probably damaging Het
Barhl1 C T 2: 28,801,562 (GRCm39) D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 (GRCm39) V821A probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dnah1 A G 14: 31,037,105 (GRCm39) L247P possibly damaging Het
Dpysl2 T A 14: 67,071,819 (GRCm39) H107L probably damaging Het
Dzip3 A G 16: 48,757,426 (GRCm39) L869S probably damaging Het
Efs T C 14: 55,157,552 (GRCm39) Y160C probably damaging Het
Enam A T 5: 88,652,306 (GRCm39) N1197Y possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam184b A G 5: 45,740,157 (GRCm39) V343A possibly damaging Het
Fbxw26 A T 9: 109,572,828 (GRCm39) Y105* probably null Het
Fiz1 A G 7: 5,011,171 (GRCm39) L449P probably benign Het
Foxi2 T A 7: 135,012,180 (GRCm39) C23S possibly damaging Het
Gdf2 G A 14: 33,666,914 (GRCm39) R212Q probably damaging Het
Gm5105 C A 3: 137,755,449 (GRCm39) A46S unknown Het
Grik5 C T 7: 24,721,996 (GRCm39) A581T probably benign Het
Gse1 C G 8: 121,299,481 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Kif1b A T 4: 149,346,740 (GRCm39) probably benign Het
Krt25 A C 11: 99,208,124 (GRCm39) V368G possibly damaging Het
Lamc1 T C 1: 153,126,896 (GRCm39) K417E probably damaging Het
Miip A G 4: 147,950,371 (GRCm39) M75T probably benign Het
Nlrp10 A G 7: 108,523,683 (GRCm39) F599S probably benign Het
Nlrp12 T A 7: 3,289,205 (GRCm39) M436L probably benign Het
Or4b13 T C 2: 90,082,753 (GRCm39) E193G possibly damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Pard6b T C 2: 167,929,259 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,685 (GRCm39) V22I probably benign Het
Plekhd1 A G 12: 80,764,044 (GRCm39) E202G probably damaging Het
Prss21 A G 17: 24,091,805 (GRCm39) T258A probably benign Het
Prss34 A G 17: 25,517,820 (GRCm39) E65G probably benign Het
Psap A G 10: 60,130,383 (GRCm39) N149S probably benign Het
Ptprf C T 4: 118,095,080 (GRCm39) A275T probably benign Het
Sem1 A G 6: 6,578,520 (GRCm39) L12P probably damaging Het
Sf3b3 A G 8: 111,571,155 (GRCm39) Y4H probably damaging Het
Sh3bp4 G T 1: 89,065,427 (GRCm39) R7L probably damaging Het
Slc16a1 T A 3: 104,560,886 (GRCm39) L397Q probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Spata31e5 T C 1: 28,815,656 (GRCm39) D792G probably benign Het
Spata31g1 A G 4: 42,971,864 (GRCm39) N399S probably benign Het
Tas2r102 C T 6: 132,739,781 (GRCm39) Q230* probably null Het
Tdo2 A G 3: 81,882,735 (GRCm39) Y13H possibly damaging Het
Tmem231 C T 8: 112,644,945 (GRCm39) R187H possibly damaging Het
Tmem30b A G 12: 73,592,353 (GRCm39) M254T probably damaging Het
Trpm1 G A 7: 63,893,318 (GRCm39) G1057R probably damaging Het
Tusc3 A T 8: 39,617,879 (GRCm39) K347N probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Vash2 T C 1: 190,702,616 (GRCm39) Y117C probably damaging Het
Vrk2 A G 11: 26,439,866 (GRCm39) I235T possibly damaging Het
Wdr20 A G 12: 110,760,373 (GRCm39) T420A probably benign Het
Other mutations in Lacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Lacc1 APN 14 77,270,727 (GRCm39) missense probably benign 0.01
IGL02377:Lacc1 APN 14 77,267,055 (GRCm39) missense probably damaging 0.98
IGL03054:Lacc1 UTSW 14 77,268,355 (GRCm39) missense possibly damaging 0.94
PIT4280001:Lacc1 UTSW 14 77,272,517 (GRCm39) missense probably damaging 1.00
R0142:Lacc1 UTSW 14 77,268,239 (GRCm39) missense probably benign 0.25
R0352:Lacc1 UTSW 14 77,272,629 (GRCm39) missense probably damaging 0.98
R0606:Lacc1 UTSW 14 77,267,061 (GRCm39) missense probably damaging 1.00
R0865:Lacc1 UTSW 14 77,271,584 (GRCm39) missense possibly damaging 0.90
R1606:Lacc1 UTSW 14 77,267,081 (GRCm39) missense probably benign 0.01
R3419:Lacc1 UTSW 14 77,272,321 (GRCm39) missense probably benign 0.05
R3615:Lacc1 UTSW 14 77,270,727 (GRCm39) missense probably benign 0.01
R4497:Lacc1 UTSW 14 77,271,470 (GRCm39) missense probably damaging 0.98
R5207:Lacc1 UTSW 14 77,271,594 (GRCm39) splice site probably null
R5902:Lacc1 UTSW 14 77,272,239 (GRCm39) missense possibly damaging 0.95
R5974:Lacc1 UTSW 14 77,272,517 (GRCm39) missense probably damaging 1.00
R7084:Lacc1 UTSW 14 77,267,096 (GRCm39) missense probably benign 0.25
R7284:Lacc1 UTSW 14 77,268,309 (GRCm39) missense probably damaging 1.00
R8079:Lacc1 UTSW 14 77,266,992 (GRCm39) missense probably damaging 1.00
R8435:Lacc1 UTSW 14 77,272,475 (GRCm39) missense possibly damaging 0.96
R8951:Lacc1 UTSW 14 77,272,613 (GRCm39) missense probably benign 0.01
R9225:Lacc1 UTSW 14 77,272,414 (GRCm39) nonsense probably null
R9467:Lacc1 UTSW 14 77,267,024 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14