Incidental Mutation 'R1145:Loxl4'
ID 165084
Institutional Source Beutler Lab
Gene Symbol Loxl4
Ensembl Gene ENSMUSG00000025185
Gene Name lysyl oxidase-like 4
Synonyms 4833426I20Rik
MMRRC Submission 039218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1145 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 42582421-42601252 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 42596994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026190] [ENSMUST00000164786] [ENSMUST00000166128] [ENSMUST00000171432]
AlphaFold Q924C6
Predicted Effect probably benign
Transcript: ENSMUST00000026190
SMART Domains Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 33 134 1.57e-49 SMART
SR 160 288 3.96e-14 SMART
SR 312 412 2.6e-41 SMART
SR 422 530 5.41e-30 SMART
Pfam:Lysyl_oxidase 534 737 1.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164786
SMART Domains Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 33 134 1.57e-49 SMART
SR 160 288 3.96e-14 SMART
SR 313 413 2.6e-41 SMART
SR 423 531 5.41e-30 SMART
Pfam:Lysyl_oxidase 535 735 1.8e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166128
SMART Domains Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
SR 46 147 1.57e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171432
SMART Domains Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 33 134 1.57e-49 SMART
SR 160 288 3.96e-14 SMART
SR 312 412 2.6e-41 SMART
SR 422 530 5.41e-30 SMART
Pfam:Lysyl_oxidase 534 737 1.3e-113 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 88.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,488,639 (GRCm39) S1257P possibly damaging Het
AC159637.1 C T 12: 93,895,054 (GRCm39) noncoding transcript Het
Agk T C 6: 40,329,372 (GRCm39) probably benign Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
C1s1 C A 6: 124,517,759 (GRCm39) D74Y probably damaging Het
Cpxm2 A G 7: 131,659,377 (GRCm39) S497P probably damaging Het
Ctsj C T 13: 61,150,357 (GRCm39) S214N probably damaging Het
Dnali1 T C 4: 124,959,340 (GRCm39) S18G possibly damaging Het
Eif4g3 C T 4: 137,893,129 (GRCm39) T959M probably damaging Het
Eml6 A G 11: 29,727,430 (GRCm39) F1231L probably benign Het
Glp1r T C 17: 31,138,406 (GRCm39) V160A probably benign Het
Gm11143 T G 6: 69,594,392 (GRCm39) V60G unknown Het
Hmcn1 A T 1: 150,555,358 (GRCm39) probably null Het
Inpp5k T C 11: 75,524,285 (GRCm39) probably benign Het
Krtdap A T 7: 30,488,975 (GRCm39) probably benign Het
Ldb2 A G 5: 44,690,016 (GRCm39) L201P probably damaging Het
Odad2 G T 18: 7,268,436 (GRCm39) P361Q probably damaging Het
Otud6b T A 4: 14,812,532 (GRCm39) T272S probably benign Het
Pnpla2 T C 7: 141,035,329 (GRCm39) Y44H probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Sel1l3 C T 5: 53,289,169 (GRCm39) R884H probably damaging Het
Slc43a2 T A 11: 75,457,815 (GRCm39) Y363* probably null Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tap2 C A 17: 34,434,914 (GRCm39) D652E possibly damaging Het
Unc80 T C 1: 66,511,247 (GRCm39) V85A probably damaging Het
Vwa3a T C 7: 120,392,566 (GRCm39) Y802H probably damaging Het
Zc3h4 G A 7: 16,150,838 (GRCm39) R60Q possibly damaging Het
Zfp385a A T 15: 103,226,370 (GRCm39) probably benign Het
Other mutations in Loxl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Loxl4 APN 19 42,585,988 (GRCm39) missense probably damaging 1.00
IGL02063:Loxl4 APN 19 42,596,778 (GRCm39) missense probably benign 0.03
IGL02490:Loxl4 APN 19 42,593,269 (GRCm39) missense probably benign
IGL02498:Loxl4 APN 19 42,593,412 (GRCm39) missense probably benign 0.27
IGL03107:Loxl4 APN 19 42,593,718 (GRCm39) missense probably benign 0.12
IGL03296:Loxl4 APN 19 42,587,262 (GRCm39) splice site probably benign
R1697:Loxl4 UTSW 19 42,593,379 (GRCm39) missense possibly damaging 0.86
R2126:Loxl4 UTSW 19 42,592,402 (GRCm39) missense probably damaging 1.00
R2128:Loxl4 UTSW 19 42,592,402 (GRCm39) missense probably damaging 1.00
R2148:Loxl4 UTSW 19 42,592,631 (GRCm39) splice site probably null
R2159:Loxl4 UTSW 19 42,588,446 (GRCm39) missense probably damaging 1.00
R3624:Loxl4 UTSW 19 42,596,015 (GRCm39) missense probably benign 0.28
R4030:Loxl4 UTSW 19 42,596,798 (GRCm39) missense probably damaging 1.00
R4181:Loxl4 UTSW 19 42,596,030 (GRCm39) missense probably benign 0.00
R4302:Loxl4 UTSW 19 42,596,030 (GRCm39) missense probably benign 0.00
R4700:Loxl4 UTSW 19 42,596,052 (GRCm39) missense probably benign 0.07
R4701:Loxl4 UTSW 19 42,596,052 (GRCm39) missense probably benign 0.07
R4719:Loxl4 UTSW 19 42,596,030 (GRCm39) missense probably benign 0.00
R4724:Loxl4 UTSW 19 42,596,785 (GRCm39) missense probably benign 0.23
R4750:Loxl4 UTSW 19 42,593,443 (GRCm39) missense probably damaging 1.00
R4953:Loxl4 UTSW 19 42,599,133 (GRCm39) unclassified probably benign
R5579:Loxl4 UTSW 19 42,592,729 (GRCm39) missense probably damaging 1.00
R5840:Loxl4 UTSW 19 42,587,154 (GRCm39) missense probably damaging 1.00
R5856:Loxl4 UTSW 19 42,583,805 (GRCm39) missense possibly damaging 0.89
R5879:Loxl4 UTSW 19 42,596,066 (GRCm39) missense probably benign 0.09
R6137:Loxl4 UTSW 19 42,587,232 (GRCm39) missense probably damaging 1.00
R6180:Loxl4 UTSW 19 42,596,791 (GRCm39) missense probably damaging 1.00
R6324:Loxl4 UTSW 19 42,583,817 (GRCm39) missense probably benign 0.00
R6347:Loxl4 UTSW 19 42,596,709 (GRCm39) missense probably damaging 1.00
R6646:Loxl4 UTSW 19 42,587,220 (GRCm39) missense probably damaging 1.00
R6788:Loxl4 UTSW 19 42,596,792 (GRCm39) missense probably damaging 1.00
R7045:Loxl4 UTSW 19 42,595,074 (GRCm39) missense probably damaging 1.00
R8013:Loxl4 UTSW 19 42,596,115 (GRCm39) missense probably damaging 1.00
R8072:Loxl4 UTSW 19 42,596,021 (GRCm39) missense probably damaging 1.00
R8546:Loxl4 UTSW 19 42,596,027 (GRCm39) missense probably benign
R9124:Loxl4 UTSW 19 42,596,099 (GRCm39) missense probably damaging 1.00
R9202:Loxl4 UTSW 19 42,593,452 (GRCm39) missense probably benign 0.00
R9286:Loxl4 UTSW 19 42,586,047 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GGAGAGCGAAGTCATCATCACACAC -3'
(R):5'- AACATGCCATCCAAGCTGGGGAAG -3'

Sequencing Primer
(F):5'- GTCATCATCACACACCGTGC -3'
(R):5'- AGTGAAAGACCCTGTTGCTC -3'
Posted On 2014-03-28