Incidental Mutation 'R4302:Loxl4'
ID 322477
Institutional Source Beutler Lab
Gene Symbol Loxl4
Ensembl Gene ENSMUSG00000025185
Gene Name lysyl oxidase-like 4
Synonyms 4833426I20Rik
MMRRC Submission 041089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4302 (G1)
Quality Score 215
Status Validated
Chromosome 19
Chromosomal Location 42582421-42601252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42596030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 141 (Y141F)
Ref Sequence ENSEMBL: ENSMUSP00000125803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026190] [ENSMUST00000164786] [ENSMUST00000166128] [ENSMUST00000171432]
AlphaFold Q924C6
Predicted Effect probably benign
Transcript: ENSMUST00000026190
AA Change: Y141F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: Y141F

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 benign
Transcript: ENSMUST00000164786
AA Change: Y141F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: Y141F

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
AA Change: Y141F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: Y141F

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
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgef12 G A 9: 42,929,645 (GRCm39) Q217* probably null Het
Bcas1 A G 2: 170,260,547 (GRCm39) V44A probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Creb3l1 T C 2: 91,823,664 (GRCm39) I183V probably damaging Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Dync2h1 A T 9: 7,077,880 (GRCm39) S2941T probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Hcfc1 A G X: 72,992,972 (GRCm39) S1398P probably benign Het
Igsf10 T C 3: 59,226,171 (GRCm39) I2501V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mgam A G 6: 40,740,019 (GRCm39) D1664G probably benign Het
Mill2 A T 7: 18,590,456 (GRCm39) T179S probably damaging Het
Ncf4 T C 15: 78,144,962 (GRCm39) probably benign Het
Nol12 T C 15: 78,824,341 (GRCm39) S154P probably damaging Het
Nup58 A G 14: 60,484,875 (GRCm39) S50P probably benign Het
Or11j4 T C 14: 50,630,903 (GRCm39) I230T probably benign Het
Or12d16-ps1 T A 17: 37,706,377 (GRCm39) N315K probably benign Het
Or7g30 A G 9: 19,352,295 (GRCm39) T29A probably benign Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rhpn2 A G 7: 35,090,270 (GRCm39) T631A probably benign Het
Rps11 T C 7: 44,772,368 (GRCm39) M80V probably benign Het
Rrm1 T C 7: 102,097,031 (GRCm39) Y104H probably benign Het
Sgsm3 T A 15: 80,894,502 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,365,154 (GRCm39) L162F probably benign Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Stk24 A G 14: 121,529,494 (GRCm39) L386S probably benign Het
Tfcp2 G T 15: 100,412,730 (GRCm39) N307K possibly damaging Het
Trbv21 T A 6: 41,179,702 (GRCm39) V6D probably benign Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r38 A G 7: 9,100,562 (GRCm39) probably null Het
Vps8 T A 16: 21,314,664 (GRCm39) L158Q probably damaging 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
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'- AGCAGTTTCTCAGGTCCCAC -3'
(R):5'- TAATGTCCCACCAGAGAGAAAG -3'

Sequencing Primer
(F):5'- ACCAGGCCTAGTGTCTGGTC -3'
(R):5'- GAGAAAGCAGCCTCTCTCG -3'
Posted On 2015-06-20