Incidental Mutation 'R6646:Loxl4'
ID 527996
Institutional Source Beutler Lab
Gene Symbol Loxl4
Ensembl Gene ENSMUSG00000025185
Gene Name lysyl oxidase-like 4
Synonyms 4833426I20Rik
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6646 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 42582421-42601252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42587220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 625 (D625G)
Ref Sequence ENSEMBL: ENSMUSP00000126686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026190] [ENSMUST00000164786] [ENSMUST00000171432]
AlphaFold Q924C6
Predicted Effect probably damaging
Transcript: ENSMUST00000026190
AA Change: D625G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: D625G

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 noncoding transcript
Transcript: ENSMUST00000164014
Predicted Effect probably damaging
Transcript: ENSMUST00000164786
AA Change: D626G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: D626G

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 damaging
Transcript: ENSMUST00000171432
AA Change: D625G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: D625G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null 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
R1145:Loxl4 UTSW 19 42,596,994 (GRCm39) unclassified 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
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'- GGCTAGAATATTCAAGAGCCTAGGG -3'
(R):5'- TCTGTGACCATGCTCATCTTGG -3'

Sequencing Primer
(F):5'- GCCTAGGGCTATTGGACAGG -3'
(R):5'- ACCATGCTCATCTTGGACTTAGGAG -3'
Posted On 2018-07-24