Incidental Mutation 'IGL03062:Loxl1'
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ID409519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Loxl1
Ensembl Gene ENSMUSG00000032334
Gene Namelysyl oxidase-like 1
SynonymsLOXL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03062
Quality Score
Status
Chromosome9
Chromosomal Location58287738-58313186 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 58311910 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 326 (G326V)
Ref Sequence ENSEMBL: ENSMUSP00000057406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061799]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061799
AA Change: G326V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: G326V

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
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Klc3 C A 7: 19,395,062 G461W probably damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Lyrm1 T C 7: 119,916,131 probably benign Het
Med28 G A 5: 45,522,469 V65I probably damaging Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Socs6 A T 18: 88,869,846 M315K probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Tmbim1 A T 1: 74,291,699 I168N possibly damaging Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Loxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Loxl1 APN 9 58294422 missense possibly damaging 0.89
IGL02549:Loxl1 APN 9 58293638 missense probably damaging 1.00
IGL02562:Loxl1 APN 9 58288916 missense probably damaging 1.00
R0141:Loxl1 UTSW 9 58312132 missense probably damaging 0.98
R1503:Loxl1 UTSW 9 58293640 missense probably damaging 1.00
R1898:Loxl1 UTSW 9 58297678 missense probably damaging 1.00
R2125:Loxl1 UTSW 9 58293712 missense probably damaging 1.00
R2264:Loxl1 UTSW 9 58297678 missense probably damaging 1.00
R4094:Loxl1 UTSW 9 58312456 missense probably damaging 0.98
R4993:Loxl1 UTSW 9 58312537 missense probably damaging 0.99
R5484:Loxl1 UTSW 9 58290782 missense possibly damaging 0.75
R5598:Loxl1 UTSW 9 58312367 missense possibly damaging 0.71
R5808:Loxl1 UTSW 9 58294449 missense probably damaging 0.99
R5917:Loxl1 UTSW 9 58312723 missense probably damaging 1.00
R7566:Loxl1 UTSW 9 58312198 missense probably damaging 0.98
R7899:Loxl1 UTSW 9 58290834 missense probably damaging 1.00
R7982:Loxl1 UTSW 9 58290834 missense probably damaging 1.00
Posted On2016-08-02