Incidental Mutation 'R0241:Loxl3'
ID 66182
Institutional Source Beutler Lab
Gene Symbol Loxl3
Ensembl Gene ENSMUSG00000000693
Gene Name lysyl oxidase-like 3
Synonyms Lor2
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R0241 (G1)
Quality Score 176
Status Not validated
Chromosome 6
Chromosomal Location 83011186-83029547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83027114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 615 (D615G)
Ref Sequence ENSEMBL: ENSMUSP00000000707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000101257] [ENSMUST00000113962] [ENSMUST00000113963] [ENSMUST00000134606] [ENSMUST00000122955]
AlphaFold Q9Z175
Predicted Effect probably damaging
Transcript: ENSMUST00000000707
AA Change: D615G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: D615G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 408 3.72e-51 SMART
SR 418 526 8.5e-37 SMART
Pfam:Lysyl_oxidase 530 730 3.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089645
SMART Domains Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 341 1.1e-14 PFAM
Pfam:Trypsin_2 182 320 1.2e-34 PFAM
PDZ 371 445 2.86e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092618
SMART Domains Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328

DomainStartEndE-ValueType
low complexity region 10 40 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
PlsC 119 222 1.04e-1 SMART
low complexity region 307 322 N/A INTRINSIC
CUE 325 366 1.3e-9 SMART
low complexity region 378 392 N/A INTRINSIC
low complexity region 421 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101257
SMART Domains Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 396 5.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113962
SMART Domains Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin_2 182 237 2.7e-12 PFAM
Pfam:Trypsin 212 277 4.5e-6 PFAM
PDZ 285 348 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113963
SMART Domains Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 342 6.8e-15 PFAM
Pfam:Trypsin_2 182 320 7.1e-24 PFAM
PDZ 350 413 4.89e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144058
Predicted Effect probably benign
Transcript: ENSMUST00000203915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184661
Predicted Effect probably benign
Transcript: ENSMUST00000150217
SMART Domains Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Pfam:Trypsin 41 215 1.6e-11 PFAM
Pfam:Trypsin_2 53 190 1.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134606
SMART Domains Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
Pfam:Trypsin 7 180 2.7e-15 PFAM
Pfam:Trypsin_2 20 158 3.1e-24 PFAM
PDZ 209 283 2.86e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122955
SMART Domains Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 321 2.1e-10 PFAM
Pfam:Trypsin_2 182 317 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205152
Predicted Effect probably benign
Transcript: ENSMUST00000204343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204383
Predicted Effect probably benign
Transcript: ENSMUST00000204719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204385
Meta Mutation Damage Score 0.8197 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality shortly after birth, craniofacial and vertebral abnormalities associated with collagen deformities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Loxl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Loxl3 APN 6 83,025,747 (GRCm39) unclassified probably benign
IGL01370:Loxl3 APN 6 83,026,468 (GRCm39) missense probably damaging 1.00
IGL02126:Loxl3 APN 6 83,025,628 (GRCm39) missense probably damaging 1.00
IGL02128:Loxl3 APN 6 83,027,564 (GRCm39) missense probably damaging 1.00
R0241:Loxl3 UTSW 6 83,027,114 (GRCm39) missense probably damaging 1.00
R1725:Loxl3 UTSW 6 83,012,574 (GRCm39) missense probably benign 0.00
R1771:Loxl3 UTSW 6 83,026,890 (GRCm39) missense probably damaging 1.00
R2017:Loxl3 UTSW 6 83,025,958 (GRCm39) missense probably damaging 0.99
R2291:Loxl3 UTSW 6 83,014,469 (GRCm39) missense probably benign 0.07
R3731:Loxl3 UTSW 6 83,027,652 (GRCm39) critical splice donor site probably null
R4179:Loxl3 UTSW 6 83,014,565 (GRCm39) missense probably benign 0.00
R5230:Loxl3 UTSW 6 83,012,775 (GRCm39) missense probably benign 0.16
R5385:Loxl3 UTSW 6 83,027,593 (GRCm39) missense probably damaging 0.99
R5591:Loxl3 UTSW 6 83,025,018 (GRCm39) missense probably damaging 1.00
R5664:Loxl3 UTSW 6 83,026,863 (GRCm39) missense probably benign 0.12
R5769:Loxl3 UTSW 6 83,027,581 (GRCm39) missense probably damaging 0.98
R5771:Loxl3 UTSW 6 83,012,780 (GRCm39) splice site probably null
R5802:Loxl3 UTSW 6 83,026,270 (GRCm39) missense possibly damaging 0.67
R5831:Loxl3 UTSW 6 83,025,999 (GRCm39) missense probably benign 0.01
R5945:Loxl3 UTSW 6 83,014,492 (GRCm39) missense probably damaging 1.00
R6542:Loxl3 UTSW 6 83,025,147 (GRCm39) missense probably benign 0.00
R6687:Loxl3 UTSW 6 83,027,645 (GRCm39) missense probably damaging 1.00
R7961:Loxl3 UTSW 6 83,027,790 (GRCm39) missense possibly damaging 0.88
R8009:Loxl3 UTSW 6 83,027,790 (GRCm39) missense possibly damaging 0.88
R8122:Loxl3 UTSW 6 83,026,240 (GRCm39) missense probably damaging 1.00
R8278:Loxl3 UTSW 6 83,025,697 (GRCm39) missense probably damaging 1.00
R8373:Loxl3 UTSW 6 83,025,872 (GRCm39) missense possibly damaging 0.89
R8411:Loxl3 UTSW 6 83,027,605 (GRCm39) missense probably damaging 1.00
R8539:Loxl3 UTSW 6 83,026,507 (GRCm39) missense probably benign
R8684:Loxl3 UTSW 6 83,012,566 (GRCm39) missense probably benign 0.23
R8782:Loxl3 UTSW 6 83,025,051 (GRCm39) missense probably benign
R8801:Loxl3 UTSW 6 83,025,629 (GRCm39) missense probably damaging 1.00
R8859:Loxl3 UTSW 6 83,014,526 (GRCm39) missense probably damaging 1.00
R8864:Loxl3 UTSW 6 83,012,739 (GRCm39) missense probably damaging 0.99
R9031:Loxl3 UTSW 6 83,012,503 (GRCm39) missense probably damaging 1.00
R9081:Loxl3 UTSW 6 83,025,638 (GRCm39) missense possibly damaging 0.67
R9176:Loxl3 UTSW 6 83,026,292 (GRCm39) missense probably damaging 0.99
R9369:Loxl3 UTSW 6 83,027,393 (GRCm39) missense probably benign 0.26
R9634:Loxl3 UTSW 6 83,027,835 (GRCm39) missense probably benign 0.10
V1024:Loxl3 UTSW 6 83,012,719 (GRCm39) missense probably damaging 1.00
X0009:Loxl3 UTSW 6 83,015,461 (GRCm39) missense probably damaging 1.00
Z1177:Loxl3 UTSW 6 83,025,141 (GRCm39) missense probably benign 0.00
Z1177:Loxl3 UTSW 6 83,015,559 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2013-08-19