Incidental Mutation 'IGL02935:Mlec'
ID 364292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlec
Ensembl Gene ENSMUSG00000048578
Gene Name malectin
Synonyms ESTM19, 2410014A08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02935
Quality Score
Status
Chromosome 5
Chromosomal Location 115281040-115296235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115295873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 74 (R74L)
Ref Sequence ENSEMBL: ENSMUSP00000107749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112121]
AlphaFold Q6ZQI3
Predicted Effect probably benign
Transcript: ENSMUST00000112121
AA Change: R74L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107749
Gene: ENSMUSG00000048578
AA Change: R74L

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Malectin 47 207 6.8e-45 PFAM
coiled coil region 228 253 N/A INTRINSIC
transmembrane domain 271 290 N/A INTRINSIC
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 the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C probably damaging Het
Other mutations in Mlec
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1997:Mlec UTSW 5 115,288,405 (GRCm39) missense probably damaging 0.99
R4686:Mlec UTSW 5 115,288,355 (GRCm39) missense possibly damaging 0.95
R4763:Mlec UTSW 5 115,295,972 (GRCm39) missense unknown
R5961:Mlec UTSW 5 115,288,159 (GRCm39) nonsense probably null
R6083:Mlec UTSW 5 115,286,108 (GRCm39) missense probably benign 0.00
R6216:Mlec UTSW 5 115,288,376 (GRCm39) missense probably benign 0.01
R7568:Mlec UTSW 5 115,288,181 (GRCm39) missense probably damaging 1.00
R8312:Mlec UTSW 5 115,288,266 (GRCm39) critical splice donor site probably null
R8463:Mlec UTSW 5 115,288,283 (GRCm39) missense probably damaging 0.96
R9549:Mlec UTSW 5 115,288,271 (GRCm39) missense probably benign 0.15
Posted On 2015-12-18