Incidental Mutation 'IGL01752:Lox'
ID153404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lox
Ensembl Gene ENSMUSG00000024529
Gene Namelysyl oxidase
SynonymsTSC-160, ras recision gene (rrg)
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01752
Quality Score
Status
Chromosome18
Chromosomal Location52516069-52529867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52520854 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 390 (V390A)
Ref Sequence ENSEMBL: ENSMUSP00000129247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025409] [ENSMUST00000171470]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025409
AA Change: V390A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025409
Gene: ENSMUSG00000024529
AA Change: V390A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 107 116 N/A INTRINSIC
low complexity region 126 139 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
Pfam:Lysyl_oxidase 207 411 2.3e-121 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171470
AA Change: V390A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129247
Gene: ENSMUSG00000024529
AA Change: V390A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 107 116 N/A INTRINSIC
low complexity region 126 139 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
Pfam:Lysyl_oxidase 207 408 3.7e-96 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a precursor protein that belongs to the lysyl oxidase family of proteins. The secreted proprotein is proteolytically processed to an active mature peptide and a propeptide. This propeptide is thought to function in tumor suppression by inhibiting the Ras signaling pathway. The active enzyme plays a role in cross-linking of collagen and elastin and is essential for development of cardiovascular and respiratory systems, and development of skin and connective tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to altered arterial wall structure, aortic aneurysms, cardiovascular dysfunction, diaphragmatic hernia, and perinatal death. Abnormal development of the respiratory system, and elastic and collagen fiber abnormalities in the lung and skin are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Lox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Lox APN 18 52521316 missense probably damaging 1.00
IGL02665:Lox APN 18 52525244 splice site probably benign
R0040:Lox UTSW 18 52520826 missense possibly damaging 0.91
R0383:Lox UTSW 18 52529199 missense possibly damaging 0.50
R0658:Lox UTSW 18 52528883 missense probably benign 0.00
R1391:Lox UTSW 18 52528819 missense probably damaging 0.99
R1721:Lox UTSW 18 52520911 critical splice acceptor site probably null
R1794:Lox UTSW 18 52528307 missense probably damaging 1.00
R3122:Lox UTSW 18 52525105 missense probably damaging 0.97
R5436:Lox UTSW 18 52529103 missense probably benign
R5679:Lox UTSW 18 52528917 missense probably benign 0.00
R6739:Lox UTSW 18 52526959 missense possibly damaging 0.95
R7679:Lox UTSW 18 52525106 missense possibly damaging 0.80
R7840:Lox UTSW 18 52525122 nonsense probably null
R8015:Lox UTSW 18 52528348 missense probably benign 0.27
Z1176:Lox UTSW 18 52520834 missense probably damaging 1.00
Posted On2014-02-04