Incidental Mutation 'R5879:Loxl4'
ID 455739
Institutional Source Beutler Lab
Gene Symbol Loxl4
Ensembl Gene ENSMUSG00000025185
Gene Name lysyl oxidase-like 4
Synonyms 4833426I20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5879 (G1)
Quality Score 189
Status Not validated
Chromosome 19
Chromosomal Location 42582421-42601252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42596066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 142 (V142A)
Ref Sequence ENSEMBL: ENSMUSP00000126552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026190] [ENSMUST00000164786] [ENSMUST00000166128] [ENSMUST00000171432]
AlphaFold Q924C6
Predicted Effect probably benign
Transcript: ENSMUST00000026190
AA Change: V129A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: V129A

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: V129A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: V129A

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
AA Change: V142A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185
AA Change: V142A

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
SR 46 147 1.57e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171432
AA Change: V129A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: V129A

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: 97.9%
  • 20x: 93.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) 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
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'- ACAGGGAGCAGTTTCTCAGG -3'
(R):5'- TGTCCCACCAGAGAGAAAGCAG -3'

Sequencing Primer
(F):5'- TGACTGGCTCTGCACGAATG -3'
(R):5'- GAGAAAGCAGCCTCTCTCG -3'
Posted On 2017-02-10