Incidental Mutation 'IGL01919:Mal2'
ID 180035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mal2
Ensembl Gene ENSMUSG00000024479
Gene Name mal, T cell differentiation protein 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01919
Quality Score
Status
Chromosome 15
Chromosomal Location 54434762-54466242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54451728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 50 (W50R)
Ref Sequence ENSEMBL: ENSMUSP00000025356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025356]
AlphaFold Q8BI08
Predicted Effect probably damaging
Transcript: ENSMUST00000025356
AA Change: W50R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025356
Gene: ENSMUSG00000024479
AA Change: W50R

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:MARVEL 30 168 4.4e-20 PFAM
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 multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,608,580 (GRCm39) probably null Het
Alms1 T C 6: 85,604,986 (GRCm39) F2212S possibly damaging Het
Anpep T C 7: 79,475,098 (GRCm39) I155V possibly damaging Het
Aoc1 G A 6: 48,885,223 (GRCm39) V653M probably damaging Het
Arl8b T C 6: 108,798,518 (GRCm39) probably benign Het
Bax A C 7: 45,115,552 (GRCm39) probably null Het
Cpne7 G A 8: 123,852,382 (GRCm39) E195K probably damaging Het
Csmd3 A G 15: 47,539,168 (GRCm39) I2330T possibly damaging Het
Dnajc16 A G 4: 141,501,940 (GRCm39) S297P probably benign Het
Farp2 A G 1: 93,504,155 (GRCm39) K311E probably damaging Het
Fhad1 A G 4: 141,691,906 (GRCm39) L410P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm12185 T C 11: 48,798,886 (GRCm39) T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hydin C T 8: 111,245,806 (GRCm39) T2173I possibly damaging Het
Kpnb1 A G 11: 97,055,556 (GRCm39) V783A probably benign Het
Krt1 A G 15: 101,754,811 (GRCm39) V509A unknown Het
Lrwd1 A T 5: 136,164,729 (GRCm39) L26* probably null Het
Map3k21 A T 8: 126,668,871 (GRCm39) E819V probably damaging Het
Mrgprx3-ps T C 7: 46,959,959 (GRCm39) T11A probably benign Het
Mroh2b T C 15: 4,953,170 (GRCm39) F635L probably benign Het
Mylip G A 13: 45,562,178 (GRCm39) E327K probably damaging Het
Nfix T C 8: 85,453,103 (GRCm39) D308G probably damaging Het
Or1l8 G A 2: 36,817,824 (GRCm39) Q101* probably null Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Psma6 A G 12: 55,454,254 (GRCm39) E26G probably damaging Het
Rgs16 T A 1: 153,617,804 (GRCm39) S105T probably damaging Het
Slc25a23 T A 17: 57,354,291 (GRCm39) N372Y possibly damaging Het
Slc35e2 A G 4: 155,697,187 (GRCm39) M234V probably benign Het
Tbc1d8 A G 1: 39,431,334 (GRCm39) V346A probably damaging Het
Tgfb1i1 C T 7: 127,847,654 (GRCm39) probably benign Het
Triml2 A C 8: 43,643,349 (GRCm39) T177P probably damaging Het
Uba6 T C 5: 86,267,245 (GRCm39) T959A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Mal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Mal2 APN 15 54,461,941 (GRCm39) nonsense probably null
IGL02647:Mal2 APN 15 54,451,833 (GRCm39) missense probably damaging 0.96
R1772:Mal2 UTSW 15 54,451,783 (GRCm39) missense probably damaging 0.99
R2015:Mal2 UTSW 15 54,464,136 (GRCm39) makesense probably null
R2248:Mal2 UTSW 15 54,451,732 (GRCm39) missense probably damaging 1.00
R4496:Mal2 UTSW 15 54,461,835 (GRCm39) missense probably damaging 0.96
R6190:Mal2 UTSW 15 54,434,794 (GRCm39) start gained probably benign
R6275:Mal2 UTSW 15 54,435,035 (GRCm39) critical splice donor site probably null
R6862:Mal2 UTSW 15 54,451,753 (GRCm39) missense probably damaging 1.00
R8560:Mal2 UTSW 15 54,461,826 (GRCm39) missense probably benign
R9037:Mal2 UTSW 15 54,434,939 (GRCm39) missense unknown
Posted On 2014-05-07