Incidental Mutation 'R0040:Lox'
ID 15434
Institutional Source Beutler Lab
Gene Symbol Lox
Ensembl Gene ENSMUSG00000024529
Gene Name lysyl oxidase
Synonyms TSC-160, ras recision gene (rrg)
MMRRC Submission 038334-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R0040 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 52516069-52529867 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52520826 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 399 (H399Q)
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: H399Q

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025409
Gene: ENSMUSG00000024529
AA Change: H399Q

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: H399Q

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129247
Gene: ENSMUSG00000024529
AA Change: H399Q

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
Meta Mutation Damage Score 0.0833 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,645,206 L356R possibly damaging Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Arpp21 T C 9: 112,147,409 probably benign Het
Atcay C T 10: 81,210,519 probably null Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Cacng5 A T 11: 107,884,510 L11Q probably damaging Het
Ccdc73 T C 2: 104,992,084 S793P probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Csmd3 G A 15: 47,633,816 P3062S probably damaging Het
Dctn4 A G 18: 60,544,042 N145D possibly damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gucy2g T A 19: 55,217,302 T709S possibly damaging Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kri1 T C 9: 21,281,105 Y131C probably damaging Het
Krt71 T A 15: 101,738,433 H280L possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Mpp7 A T 18: 7,403,180 probably benign Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Olfml2b A G 1: 170,668,751 H317R probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Pira6 A G 7: 4,281,483 noncoding transcript Het
Pkhd1l1 T A 15: 44,573,625 Y3460N probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rnf168 T A 16: 32,278,173 probably null Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Scara5 C T 14: 65,762,717 probably benign Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Synpr G A 14: 13,563,024 A86T probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Wdpcp A G 11: 21,711,638 I303M probably damaging Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zfp867 C T 11: 59,463,865 A213T possibly damaging Het
Zkscan3 A T 13: 21,394,920 probably null Het
Other mutations in Lox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01752:Lox APN 18 52520854 missense possibly damaging 0.74
IGL02457:Lox APN 18 52521316 missense probably damaging 1.00
IGL02665:Lox APN 18 52525244 splice site probably benign
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
R9314:Lox UTSW 18 52520839 missense probably damaging 1.00
R9325:Lox UTSW 18 52528328 missense probably benign 0.00
Z1176:Lox UTSW 18 52520834 missense probably damaging 1.00
Posted On 2012-12-21