Incidental Mutation 'IGL01357:Mal'
ID 75562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mal
Ensembl Gene ENSMUSG00000027375
Gene Name myelin and lymphocyte protein, T cell differentiation protein
Synonyms VIP17
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # IGL01357
Quality Score
Status
Chromosome 2
Chromosomal Location 127475146-127498615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127482234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 56 (M56I)
Ref Sequence ENSEMBL: ENSMUSP00000028854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028853] [ENSMUST00000028854]
AlphaFold O09198
Predicted Effect probably benign
Transcript: ENSMUST00000028853
SMART Domains Protein: ENSMUSP00000028853
Gene: ENSMUSG00000027375

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000028854
AA Change: M56I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028854
Gene: ENSMUSG00000027375
AA Change: M56I

DomainStartEndE-ValueType
Pfam:MARVEL 18 145 6.6e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The encoded protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mice display abnormal myelination and optic nerve morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 125,366,072 (GRCm39) V224F probably damaging Het
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
Axl A G 7: 25,473,594 (GRCm39) L344P probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nxt1 A G 2: 148,517,316 (GRCm39) E19G probably damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in Mal
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0017:Mal UTSW 2 127,482,227 (GRCm39) missense probably damaging 1.00
R0352:Mal UTSW 2 127,482,286 (GRCm39) missense probably damaging 1.00
R1675:Mal UTSW 2 127,476,964 (GRCm39) missense probably benign 0.39
R5085:Mal UTSW 2 127,482,193 (GRCm39) missense probably benign 0.05
R5544:Mal UTSW 2 127,476,937 (GRCm39) missense probably damaging 1.00
R9695:Mal UTSW 2 127,482,308 (GRCm39) missense probably benign 0.02
R9719:Mal UTSW 2 127,498,025 (GRCm39) missense possibly damaging 0.63
Posted On 2013-10-07