Incidental Mutation 'R3122:Lox'
ID 264134
Institutional Source Beutler Lab
Gene Symbol Lox
Ensembl Gene ENSMUSG00000024529
Gene Name lysyl oxidase
Synonyms ras recision gene (rrg), TSC-160
MMRRC Submission 040595-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3122 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 52649139-52662939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52658177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 332 (F332S)
Ref Sequence ENSEMBL: ENSMUSP00000129247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025409] [ENSMUST00000171470]
AlphaFold P28301
Predicted Effect probably damaging
Transcript: ENSMUST00000025409
AA Change: F332S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025409
Gene: ENSMUSG00000024529
AA Change: F332S

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 probably damaging
Transcript: ENSMUST00000171470
AA Change: F332S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129247
Gene: ENSMUSG00000024529
AA Change: F332S

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 0.7534 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,118,248 (GRCm39) N8S possibly damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccbe1 A G 18: 66,199,900 (GRCm39) M274T probably benign Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc17 G T 4: 116,456,749 (GRCm39) probably benign Het
Ccdc85a C A 11: 28,533,499 (GRCm39) C15F unknown Het
Cpt1c A G 7: 44,609,345 (GRCm39) Y715H probably damaging Het
Dmwd T A 7: 18,814,620 (GRCm39) F423L probably damaging Het
Dock3 C G 9: 106,788,542 (GRCm39) A1598P probably damaging Het
Ext2 A G 2: 93,644,170 (GRCm39) L37P probably damaging Het
Fam120a T C 13: 49,045,562 (GRCm39) D758G possibly damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm9776 A T 13: 94,495,194 (GRCm39) probably benign Het
Grik1 A T 16: 87,803,361 (GRCm39) M277K probably damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Hephl1 A G 9: 15,000,265 (GRCm39) F329S possibly damaging Het
Kif13a G A 13: 46,918,072 (GRCm39) probably benign Het
Knl1 T A 2: 118,899,425 (GRCm39) H375Q probably benign Het
Ltf G A 9: 110,851,968 (GRCm39) C135Y probably damaging Het
Madd A G 2: 91,006,554 (GRCm39) Y347H probably damaging Het
Mboat1 T C 13: 30,422,031 (GRCm39) Y387H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 T C 13: 100,545,503 (GRCm39) T1342A probably damaging Het
Naip6 T C 13: 100,453,031 (GRCm39) D10G probably benign Het
Nudt8 A G 19: 4,052,015 (GRCm39) R209G possibly damaging Het
Or4c31 G T 2: 88,291,853 (GRCm39) M75I probably damaging Het
Or56a3 T C 7: 104,735,385 (GRCm39) V154A probably benign Het
Or8k35 A T 2: 86,424,954 (GRCm39) Y73N possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Phactr1 T A 13: 43,213,049 (GRCm39) S131T possibly damaging Het
Phactr3 A G 2: 177,973,411 (GRCm39) I475V probably damaging Het
Pip T A 6: 41,828,819 (GRCm39) N121K probably damaging Het
Pla2g4d T C 2: 120,109,384 (GRCm39) R222G probably benign Het
Rbm42 A G 7: 30,349,152 (GRCm39) probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Svep1 C T 4: 58,087,845 (GRCm39) V1745I possibly damaging Het
Tnfsf15 T A 4: 63,652,522 (GRCm39) E96D probably benign Het
Vmn1r217 A G 13: 23,298,249 (GRCm39) S218P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r71 T G 7: 85,264,828 (GRCm39) Y53* probably null Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Wrnip1 A G 13: 32,986,744 (GRCm39) D175G probably benign Het
Zscan2 G A 7: 80,513,092 (GRCm39) A26T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTTACATGTACAGCTGGAAAC -3'
(R):5'- TCTATGTGCCACTGACTGCTG -3'

Sequencing Primer
(F):5'- GTACAGCTGGAAACACTTTAAAAGC -3'
(R):5'- GCCACTGACTGCTGTTTCTTTG -3'
Posted On 2015-02-05