Incidental Mutation 'R0040:Lox'
ID 15434
Institutional Source Beutler Lab
Gene Symbol Lox
Ensembl Gene ENSMUSG00000024529
Gene Name lysyl oxidase
Synonyms ras recision gene (rrg), TSC-160
MMRRC Submission 038334-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0040 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 52649139-52662939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52653898 bp (GRCm39)
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: 121,622,165 (GRCm39) L356R possibly damaging Het
Antxr2 G A 5: 98,086,284 (GRCm39) T441I possibly damaging Het
Apcs A G 1: 172,722,023 (GRCm39) Y108H probably benign Het
Arpp21 T C 9: 111,976,477 (GRCm39) probably benign Het
Atcay C T 10: 81,046,353 (GRCm39) probably null Het
Bahcc1 A G 11: 120,159,196 (GRCm39) D141G probably damaging Het
Cacng5 A T 11: 107,775,336 (GRCm39) L11Q probably damaging Het
Ccdc73 T C 2: 104,822,429 (GRCm39) S793P probably damaging Het
Ceacam10 A G 7: 24,477,689 (GRCm39) Y68C probably damaging Het
Csmd3 G A 15: 47,497,212 (GRCm39) P3062S probably damaging Het
Dctn4 A G 18: 60,677,114 (GRCm39) N145D possibly damaging Het
Dusp12 A G 1: 170,708,226 (GRCm39) Y164H probably damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fbxl13 T C 5: 21,691,371 (GRCm39) T671A probably damaging Het
Fndc3b T A 3: 27,610,266 (GRCm39) probably null Het
Gprc6a T A 10: 51,491,080 (GRCm39) K819* probably null Het
Gucy2g T A 19: 55,205,734 (GRCm39) T709S possibly damaging Het
Gxylt1 A T 15: 93,152,436 (GRCm39) probably benign Het
Idh2 A G 7: 79,747,570 (GRCm39) S317P probably damaging Het
Ifi30 T C 8: 71,216,421 (GRCm39) probably null Het
Ifna16 G A 4: 88,594,867 (GRCm39) A76V probably benign Het
Itpr2 C T 6: 146,246,638 (GRCm39) E1127K probably damaging Het
Kank4 A G 4: 98,667,457 (GRCm39) V330A probably benign Het
Kri1 T C 9: 21,192,401 (GRCm39) Y131C probably damaging Het
Krt71 T A 15: 101,646,868 (GRCm39) H280L possibly damaging Het
Mapt A G 11: 104,196,224 (GRCm39) M446V probably damaging Het
Mpp7 A T 18: 7,403,180 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,461,708 (GRCm39) V1447A probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1b A T 1: 51,821,148 (GRCm39) I451N probably damaging Het
Nubp1 A G 16: 10,238,981 (GRCm39) T199A probably damaging Het
Olfml2b A G 1: 170,496,320 (GRCm39) H317R probably benign Het
Pard3b A T 1: 62,676,979 (GRCm39) Y1170F probably damaging Het
Pear1 T C 3: 87,661,665 (GRCm39) D536G probably damaging Het
Pira6 A G 7: 4,284,482 (GRCm39) noncoding transcript Het
Pkhd1l1 T A 15: 44,437,021 (GRCm39) Y3460N probably damaging Het
Plxna2 G T 1: 194,326,204 (GRCm39) R46L probably benign Het
Rnf168 T A 16: 32,096,991 (GRCm39) probably null Het
Rpl14 C G 9: 120,401,167 (GRCm39) F3L possibly damaging Het
Scara5 C T 14: 66,000,166 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,782,286 (GRCm39) Y143N possibly damaging Het
Slc4a8 T A 15: 100,687,727 (GRCm39) I288N probably damaging Het
Synpr G A 14: 13,563,024 (GRCm38) A86T probably damaging Het
Ttc38 C A 15: 85,725,690 (GRCm39) F184L probably damaging Het
Wdpcp A G 11: 21,661,638 (GRCm39) I303M probably damaging Het
Zc3h12d G A 10: 7,743,678 (GRCm39) A483T probably benign Het
Zfp106 C A 2: 120,362,094 (GRCm39) K1008N probably damaging Het
Zfp68 G A 5: 138,606,041 (GRCm39) T94I probably benign Het
Zfp867 C T 11: 59,354,691 (GRCm39) A213T possibly damaging Het
Zkscan3 A T 13: 21,579,090 (GRCm39) probably null Het
Other mutations in Lox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01752:Lox APN 18 52,653,926 (GRCm39) missense possibly damaging 0.74
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
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 2012-12-21