Incidental Mutation 'R5961:Mlec'
ID 471822
Institutional Source Beutler Lab
Gene Symbol Mlec
Ensembl Gene ENSMUSG00000048578
Gene Name malectin
Synonyms ESTM19, 2410014A08Rik
MMRRC Submission 043247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5961 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115281040-115296235 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 115288159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 205 (C205*)
Ref Sequence ENSEMBL: ENSMUSP00000107749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112121]
AlphaFold Q6ZQI3
Predicted Effect probably null
Transcript: ENSMUST00000112121
AA Change: C205*
SMART Domains Protein: ENSMUSP00000107749
Gene: ENSMUSG00000048578
AA Change: C205*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124678
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,338 (GRCm39) L203P probably damaging Het
Aen C G 7: 78,556,907 (GRCm39) H252D probably damaging Het
Alkbh6 T A 7: 30,013,617 (GRCm39) probably null Het
Birc6 T C 17: 74,953,596 (GRCm39) V3286A probably damaging Het
Cacna1h A G 17: 25,596,246 (GRCm39) M1925T probably benign Het
Caprin2 A C 6: 148,765,038 (GRCm39) S554R probably damaging Het
Celsr3 T C 9: 108,708,993 (GRCm39) S1280P probably damaging Het
Cfap57 T C 4: 118,428,942 (GRCm39) E1008G probably benign Het
Csmd1 A G 8: 16,120,366 (GRCm39) I1813T probably damaging Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dnah2 A G 11: 69,321,974 (GRCm39) F3782S probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnajc17 T C 2: 119,016,527 (GRCm39) T64A possibly damaging Het
Dvl3 T G 16: 20,349,729 (GRCm39) S567R possibly damaging Het
Epb41l1 T A 2: 156,363,706 (GRCm39) S738R probably benign Het
Exph5 T C 9: 53,288,555 (GRCm39) W1879R probably damaging Het
Fam83a T A 15: 57,872,992 (GRCm39) F274I possibly damaging Het
Ggt1 A G 10: 75,421,736 (GRCm39) probably null Het
Ido2 C T 8: 25,023,786 (GRCm39) V351M probably damaging Het
Kcnt2 A G 1: 140,435,440 (GRCm39) E469G possibly damaging Het
Kdm2b A G 5: 123,070,724 (GRCm39) S403P probably benign Het
Klhl2 C T 8: 65,202,818 (GRCm39) R460H probably damaging Het
Mfsd6l A G 11: 68,447,368 (GRCm39) Y73C possibly damaging Het
Mlx T C 11: 100,980,053 (GRCm39) Y129H probably damaging Het
Mmadhc T C 2: 50,181,421 (GRCm39) H83R probably damaging Het
Mmp16 T C 4: 17,853,842 (GRCm39) F41S probably benign Het
Mroh6 G A 15: 75,759,617 (GRCm39) Q187* probably null Het
Myh14 T A 7: 44,272,518 (GRCm39) E1437V probably damaging Het
Nrxn1 A C 17: 90,762,371 (GRCm39) L37R probably damaging Het
Or6c209 T C 10: 129,483,723 (GRCm39) M242T possibly damaging Het
Pkhd1l1 A C 15: 44,322,859 (GRCm39) R48S probably damaging Het
Prokr2 A G 2: 132,215,595 (GRCm39) Y128H possibly damaging Het
Prtg T C 9: 72,764,228 (GRCm39) V567A probably benign Het
Rbis T C 3: 14,676,124 (GRCm39) T26A possibly damaging Het
Srrm2 G A 17: 24,039,083 (GRCm39) probably benign Het
Stat4 A T 1: 52,104,543 (GRCm39) I115L possibly damaging Het
Tnxb G A 17: 34,937,609 (GRCm39) V3833M probably damaging Het
Ugt2b36 C T 5: 87,228,724 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Usp47 T C 7: 111,652,523 (GRCm39) S47P probably damaging Het
Vps53 A G 11: 75,939,316 (GRCm39) Y696H probably damaging Het
Zfp384 T C 6: 125,000,997 (GRCm39) I23T probably damaging Het
Zfp804a A G 2: 82,088,346 (GRCm39) Y725C probably benign Het
Other mutations in Mlec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02935:Mlec APN 5 115,295,873 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- TAACCCTTTGTGGCCAGAAC -3'
(R):5'- TCCCGATGAGCATCAGGAAG -3'

Sequencing Primer
(F):5'- GGCCAGAACCATGTGATACTTTGTC -3'
(R):5'- GGGGAAGCTGAGTGTGC -3'
Posted On 2017-03-31