Incidental Mutation 'R2264:Loxl1'
ID 244000
Institutional Source Beutler Lab
Gene Symbol Loxl1
Ensembl Gene ENSMUSG00000032334
Gene Name lysyl oxidase-like 1
Synonyms LOXL
MMRRC Submission 040264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2264 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58195021-58220469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58204961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 418 (V418A)
Ref Sequence ENSEMBL: ENSMUSP00000057406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061799]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000061799
AA Change: V418A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: V418A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 82 96 N/A INTRINSIC
low complexity region 154 165 N/A INTRINSIC
low complexity region 170 185 N/A INTRINSIC
low complexity region 202 225 N/A INTRINSIC
low complexity region 232 253 N/A INTRINSIC
low complexity region 264 280 N/A INTRINSIC
low complexity region 314 326 N/A INTRINSIC
Pfam:Lysyl_oxidase 403 604 5.1e-98 PFAM
Meta Mutation Damage Score 0.6809 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
MGI Phenotype FUNCTION: This gene encodes a member of the lysyl oxidase family of copper-dependent enzymes that catalyze the formation of lysine-derived crosslinks in proteins such as collagen and elastin. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional enzyme. Mice lacking the encoded protein fail to deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. [provided by RefSeq, Sep 2016]
PHENOTYPE: Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,100 (GRCm39) S1042P probably damaging Het
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
B4galnt3 T C 6: 120,180,771 (GRCm39) *986W probably null Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dnai7 A G 6: 145,154,155 (GRCm39) probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fermt1 C T 2: 132,757,110 (GRCm39) probably null Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tinagl1 A G 4: 130,061,226 (GRCm39) V308A probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S probably benign Het
Other mutations in Loxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Loxl1 APN 9 58,201,705 (GRCm39) missense possibly damaging 0.89
IGL02549:Loxl1 APN 9 58,200,921 (GRCm39) missense probably damaging 1.00
IGL02562:Loxl1 APN 9 58,196,199 (GRCm39) missense probably damaging 1.00
IGL03062:Loxl1 APN 9 58,219,193 (GRCm39) missense possibly damaging 0.61
R0141:Loxl1 UTSW 9 58,219,415 (GRCm39) missense probably damaging 0.98
R1503:Loxl1 UTSW 9 58,200,923 (GRCm39) missense probably damaging 1.00
R1898:Loxl1 UTSW 9 58,204,961 (GRCm39) missense probably damaging 1.00
R2125:Loxl1 UTSW 9 58,200,995 (GRCm39) missense probably damaging 1.00
R4094:Loxl1 UTSW 9 58,219,739 (GRCm39) missense probably damaging 0.98
R4993:Loxl1 UTSW 9 58,219,820 (GRCm39) missense probably damaging 0.99
R5484:Loxl1 UTSW 9 58,198,065 (GRCm39) missense possibly damaging 0.75
R5598:Loxl1 UTSW 9 58,219,650 (GRCm39) missense possibly damaging 0.71
R5808:Loxl1 UTSW 9 58,201,732 (GRCm39) missense probably damaging 0.99
R5917:Loxl1 UTSW 9 58,220,006 (GRCm39) missense probably damaging 1.00
R7566:Loxl1 UTSW 9 58,219,481 (GRCm39) missense probably damaging 0.98
R7899:Loxl1 UTSW 9 58,198,117 (GRCm39) missense probably damaging 1.00
R9093:Loxl1 UTSW 9 58,219,224 (GRCm39) missense probably benign 0.01
R9649:Loxl1 UTSW 9 58,220,037 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCACAGTGTAGCAAAGGGCC -3'
(R):5'- ACTAACCTCCTTGAGCCCAG -3'

Sequencing Primer
(F):5'- ACTCCTTGAGCCAGGCAAGATG -3'
(R):5'- AGGACCCTCTGACCAGGAAG -3'
Posted On 2014-10-16