Incidental Mutation 'IGL01357:Mal'
ID75562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mal
Ensembl Gene ENSMUSG00000027375
Gene Namemyelin and lymphocyte protein, T cell differentiation protein
SynonymsVIP17
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL01357
Quality Score
Status
Chromosome2
Chromosomal Location127633226-127656695 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127640314 bp
ZygosityHeterozygous
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]
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: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
L3mbtl3 T A 10: 26,330,185 N361I unknown Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Mmaa C A 8: 79,267,971 R402L probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nme1 A G 11: 93,959,491 S122P possibly damaging Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmem243 A G 5: 9,101,348 T11A probably damaging Het
Tmprss11c A G 5: 86,231,807 V401A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in Mal
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0017:Mal UTSW 2 127640307 missense probably damaging 1.00
R0352:Mal UTSW 2 127640366 missense probably damaging 1.00
R1675:Mal UTSW 2 127635044 missense probably benign 0.39
R5085:Mal UTSW 2 127640273 missense probably benign 0.05
R5544:Mal UTSW 2 127635017 missense probably damaging 1.00
Posted On2013-10-07