Incidental Mutation 'IGL01394:Lum'
ID 79328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lum
Ensembl Gene ENSMUSG00000036446
Gene Name lumican
Synonyms Ldc, SLRR2D
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # IGL01394
Quality Score
Status
Chromosome 10
Chromosomal Location 97401363-97408565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97404834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 243 (D243V)
Ref Sequence ENSEMBL: ENSMUSP00000040877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038160]
AlphaFold P51885
Predicted Effect probably damaging
Transcript: ENSMUST00000038160
AA Change: D243V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: D243V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LRRNT 36 70 1.02e-10 SMART
LRR 66 88 2.14e1 SMART
LRR 89 114 1.92e2 SMART
LRR 135 157 1.67e2 SMART
LRR 158 181 7.8e1 SMART
LRR_TYP 183 206 2.36e-2 SMART
LRR 207 227 6.41e1 SMART
LRR 228 253 6.59e1 SMART
LRR 254 275 4.45e1 SMART
LRR 303 328 3.18e2 SMART
Coding Region Coverage
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 small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 130,747,960 (GRCm39) Q11* probably null Het
Acot5 T C 12: 84,122,262 (GRCm39) I282T probably benign Het
Adcy2 A G 13: 69,130,521 (GRCm39) V122A probably damaging Het
Aldh16a1 A C 7: 44,794,937 (GRCm39) S511A probably benign Het
Arid3b T C 9: 57,702,317 (GRCm39) E480G probably damaging Het
Baz2a T C 10: 127,954,514 (GRCm39) V723A possibly damaging Het
Bmpr1b A G 3: 141,568,742 (GRCm39) probably null Het
Ccdc83 T C 7: 89,873,209 (GRCm39) E382G probably damaging Het
Cfap46 A G 7: 139,246,895 (GRCm39) Y349H probably damaging Het
Clpx T C 9: 65,217,495 (GRCm39) V21A probably damaging Het
Clstn1 A G 4: 149,719,239 (GRCm39) N356S possibly damaging Het
Ctnnd1 A G 2: 84,435,600 (GRCm39) probably benign Het
Dock1 A G 7: 134,367,945 (GRCm39) N505S probably benign Het
Eaf2 G A 16: 36,630,928 (GRCm39) P82S probably damaging Het
Fbxw26 T C 9: 109,547,057 (GRCm39) Y456C probably benign Het
Foxred2 T C 15: 77,839,820 (GRCm39) T157A probably benign Het
Fscb A T 12: 64,520,578 (GRCm39) I296K possibly damaging Het
Gad1-ps A G 10: 99,281,424 (GRCm39) noncoding transcript Het
Golgb1 A G 16: 36,751,926 (GRCm39) E3120G probably damaging Het
Ift140 A G 17: 25,313,676 (GRCm39) D1369G probably benign Het
Kcnk13 T C 12: 100,027,921 (GRCm39) V332A probably benign Het
Lama3 T A 18: 12,664,983 (GRCm39) D661E probably null Het
Mgat4c A G 10: 102,220,975 (GRCm39) T86A possibly damaging Het
Mpdz A T 4: 81,210,728 (GRCm39) V1706D possibly damaging Het
Myrfl T C 10: 116,658,592 (GRCm39) Q455R probably benign Het
Or6k2 T C 1: 173,986,423 (GRCm39) F28S probably damaging Het
Or8c20 T A 9: 38,261,101 (GRCm39) S241T possibly damaging Het
Papolg G A 11: 23,817,235 (GRCm39) T654I probably benign Het
Pappa2 G A 1: 158,592,674 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,864,858 (GRCm39) T82I probably benign Het
Prrc2a A G 17: 35,372,080 (GRCm39) V1773A probably benign Het
Psmb8 G T 17: 34,419,703 (GRCm39) V186L probably damaging Het
Rin3 T C 12: 102,339,862 (GRCm39) V604A probably damaging Het
Rtn1 T C 12: 72,355,190 (GRCm39) D252G probably benign Het
Sdk1 C T 5: 141,598,970 (GRCm39) H212Y probably benign Het
Slc5a5 G T 8: 71,342,032 (GRCm39) Y307* probably null Het
Slc9a9 T A 9: 95,005,090 (GRCm39) L499Q probably benign Het
Snx8 C A 5: 140,337,934 (GRCm39) G237V probably benign Het
Spata18 T A 5: 73,836,688 (GRCm39) probably null Het
Stard9 A G 2: 120,536,808 (GRCm39) E417G possibly damaging Het
Ubr5 T C 15: 38,009,875 (GRCm39) D1034G possibly damaging Het
Upf2 A G 2: 6,045,024 (GRCm39) probably null Het
Xrcc6 A G 15: 81,909,862 (GRCm39) K89R possibly damaging Het
Yeats2 T C 16: 19,980,782 (GRCm39) V237A probably damaging Het
Zdhhc6 A G 19: 55,298,324 (GRCm39) W178R probably benign Het
Zfp280b C A 10: 75,875,497 (GRCm39) Q459K probably damaging Het
Zfp811 C A 17: 33,016,794 (GRCm39) K414N probably damaging Het
Other mutations in Lum
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Lum APN 10 97,404,547 (GRCm39) missense probably damaging 1.00
IGL02160:Lum APN 10 97,404,443 (GRCm39) missense probably damaging 0.96
IGL02659:Lum APN 10 97,404,609 (GRCm39) missense probably benign
PIT4305001:Lum UTSW 10 97,404,738 (GRCm39) missense probably damaging 1.00
R0352:Lum UTSW 10 97,404,471 (GRCm39) missense probably damaging 0.97
R0403:Lum UTSW 10 97,407,905 (GRCm39) missense probably benign 0.05
R1446:Lum UTSW 10 97,404,252 (GRCm39) missense possibly damaging 0.88
R2760:Lum UTSW 10 97,404,633 (GRCm39) missense probably benign 0.16
R4154:Lum UTSW 10 97,404,815 (GRCm39) missense probably damaging 1.00
R4492:Lum UTSW 10 97,404,300 (GRCm39) missense probably damaging 1.00
R7601:Lum UTSW 10 97,404,168 (GRCm39) missense probably damaging 1.00
R8058:Lum UTSW 10 97,404,425 (GRCm39) missense probably benign 0.00
R8747:Lum UTSW 10 97,404,351 (GRCm39) missense possibly damaging 0.88
R9334:Lum UTSW 10 97,404,347 (GRCm39) missense probably damaging 1.00
R9360:Lum UTSW 10 97,404,752 (GRCm39) nonsense probably null
R9800:Lum UTSW 10 97,404,157 (GRCm39) missense probably benign 0.00
X0065:Lum UTSW 10 97,404,842 (GRCm39) missense probably benign 0.00
Posted On 2013-11-05