Incidental Mutation 'R7568:Mlec'
ID 585577
Institutional Source Beutler Lab
Gene Symbol Mlec
Ensembl Gene ENSMUSG00000048578
Gene Name malectin
Synonyms ESTM19, 2410014A08Rik
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115281040-115296235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115288181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 198 (Y198C)
Ref Sequence ENSEMBL: ENSMUSP00000107749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112121]
AlphaFold Q6ZQI3
Predicted Effect probably damaging
Transcript: ENSMUST00000112121
AA Change: Y198C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107749
Gene: ENSMUSG00000048578
AA Change: Y198C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V 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
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
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'- AACCCTTTGTGGCCAGAACC -3'
(R):5'- TCATCCCGATGAGCATCAGG -3'

Sequencing Primer
(F):5'- GGCCAGAACCATGTGATACTTTGTC -3'
(R):5'- CCCGATGAGCATCAGGAAGGG -3'
Posted On 2019-10-17