Incidental Mutation 'IGL01752:Lox'
ID 153404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lox
Ensembl Gene ENSMUSG00000024529
Gene Name lysyl oxidase
Synonyms ras recision gene (rrg), TSC-160
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01752
Quality Score
Status
Chromosome 18
Chromosomal Location 52649139-52662939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52653926 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P28301
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
Abtb3 C A 10: 85,490,366 (GRCm39) Q1011K probably damaging Het
Akap11 A T 14: 78,747,318 (GRCm39) probably null Het
Cdh4 A T 2: 179,532,677 (GRCm39) N713I probably damaging Het
Cdkl4 T A 17: 80,851,043 (GRCm39) probably benign Het
Ddx21 A G 10: 62,423,286 (GRCm39) S639P probably damaging Het
Dock3 T C 9: 106,902,512 (GRCm39) probably benign Het
Fan1 G A 7: 64,022,542 (GRCm39) T237M probably benign Het
Fbn2 T A 18: 58,209,049 (GRCm39) probably null Het
Fhad1 T C 4: 141,700,210 (GRCm39) K347E possibly damaging Het
Gucy2c C A 6: 136,747,106 (GRCm39) A118S probably benign Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lyn A T 4: 3,743,286 (GRCm39) M69L probably benign Het
Mrgprb5 A G 7: 47,818,415 (GRCm39) F107L probably benign Het
Neurod2 T C 11: 98,218,201 (GRCm39) E321G possibly damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Pcnx3 T A 19: 5,715,365 (GRCm39) K1962* probably null Het
Pde3a T C 6: 141,433,339 (GRCm39) probably benign Het
Phf10 A G 17: 15,175,212 (GRCm39) probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 (GRCm39) probably null Het
Slc4a11 T G 2: 130,530,065 (GRCm39) T238P probably damaging Het
Ssu2 T A 6: 112,352,553 (GRCm39) K279N probably damaging Het
Tead3 A T 17: 28,552,568 (GRCm39) I275N probably damaging Het
Ttn T C 2: 76,575,137 (GRCm39) E25252G probably damaging Het
Twsg1 T C 17: 66,236,779 (GRCm39) T84A probably benign Het
Ugt3a1 A T 15: 9,306,232 (GRCm39) K127M probably damaging Het
Unc13c A T 9: 73,839,093 (GRCm39) M586K probably benign Het
Vmn1r195 G T 13: 22,463,421 (GRCm39) C297F probably benign Het
Vps13c T A 9: 67,855,510 (GRCm39) I2525N probably damaging Het
Zdhhc2 G A 8: 40,926,042 (GRCm39) A346T probably benign Het
Zfp52 T G 17: 21,780,412 (GRCm39) C87G probably benign Het
Other mutations in Lox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Lox APN 18 52,654,388 (GRCm39) missense probably damaging 1.00
IGL02665:Lox APN 18 52,658,316 (GRCm39) splice site probably benign
R0040:Lox UTSW 18 52,653,898 (GRCm39) missense possibly damaging 0.91
R0383:Lox UTSW 18 52,662,271 (GRCm39) missense possibly damaging 0.50
R0658:Lox UTSW 18 52,661,955 (GRCm39) missense probably benign 0.00
R1391:Lox UTSW 18 52,661,891 (GRCm39) missense probably damaging 0.99
R1721:Lox UTSW 18 52,653,983 (GRCm39) critical splice acceptor site probably null
R1794:Lox UTSW 18 52,661,379 (GRCm39) missense probably damaging 1.00
R3122:Lox UTSW 18 52,658,177 (GRCm39) missense probably damaging 0.97
R5436:Lox UTSW 18 52,662,175 (GRCm39) missense probably benign
R5679:Lox UTSW 18 52,661,989 (GRCm39) missense probably benign 0.00
R6739:Lox UTSW 18 52,660,031 (GRCm39) missense possibly damaging 0.95
R7679:Lox UTSW 18 52,658,178 (GRCm39) missense possibly damaging 0.80
R7840:Lox UTSW 18 52,658,194 (GRCm39) nonsense probably null
R8015:Lox UTSW 18 52,661,420 (GRCm39) missense probably benign 0.27
R9314:Lox UTSW 18 52,653,911 (GRCm39) missense probably damaging 1.00
R9325:Lox UTSW 18 52,661,400 (GRCm39) missense probably benign 0.00
Z1176:Lox UTSW 18 52,653,906 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04