Incidental Mutation 'R5544:Mal'
ID 436138
Institutional Source Beutler Lab
Gene Symbol Mal
Ensembl Gene ENSMUSG00000027375
Gene Name myelin and lymphocyte protein, T cell differentiation protein
Synonyms VIP17
MMRRC Submission 043102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5544 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127475146-127498615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127476937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 142 (H142L)
Ref Sequence ENSEMBL: ENSMUSP00000028854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028853] [ENSMUST00000028854]
AlphaFold O09198
Predicted Effect probably damaging
Transcript: ENSMUST00000028853
AA Change: H86L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028853
Gene: ENSMUSG00000027375
AA Change: H86L

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: H142L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028854
Gene: ENSMUSG00000027375
AA Change: H142L

DomainStartEndE-ValueType
Pfam:MARVEL 18 145 6.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G A 9: 30,863,999 (GRCm39) A372T probably damaging Het
Ap4m1 A G 5: 138,176,632 (GRCm39) T411A probably benign Het
Arid3b T A 9: 57,705,380 (GRCm39) K274* probably null Het
Bcan A G 3: 87,900,360 (GRCm39) probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
C9 T A 15: 6,526,508 (GRCm39) V514D probably damaging Het
Cdk2 A C 10: 128,535,008 (GRCm39) D336E probably benign Het
Corin A T 5: 72,462,357 (GRCm39) Y825* probably null Het
Cyp17a1 A G 19: 46,661,093 (GRCm39) Y64H probably damaging Het
Dock4 T G 12: 40,884,701 (GRCm39) I1735S possibly damaging Het
Dock7 T C 4: 98,855,494 (GRCm39) H1486R probably damaging Het
Fam171b C A 2: 83,685,871 (GRCm39) A185D possibly damaging Het
Fbxl13 A G 5: 21,729,489 (GRCm39) I441T probably damaging Het
Gm7347 T A 5: 26,260,016 (GRCm39) D178V possibly damaging Het
Greb1 C A 12: 16,723,797 (GRCm39) C1884F probably damaging Het
Kdr G A 5: 76,121,403 (GRCm39) R536* probably null Het
Lamc2 T C 1: 152,999,799 (GRCm39) T1187A possibly damaging Het
Map4k2 A C 19: 6,395,944 (GRCm39) probably null Het
Morn4 T C 19: 42,064,686 (GRCm39) T101A possibly damaging Het
Neto2 A G 8: 86,374,506 (GRCm39) V241A possibly damaging Het
Nprl2 T C 9: 107,421,808 (GRCm39) V232A probably benign Het
Pcdhb13 T C 18: 37,576,573 (GRCm39) V317A possibly damaging Het
Pcdhb17 T A 18: 37,620,474 (GRCm39) C755S possibly damaging Het
Pgc A G 17: 48,043,429 (GRCm39) D259G probably benign Het
Ptprh C A 7: 4,583,909 (GRCm39) E228* probably null Het
R3hdml A G 2: 163,340,342 (GRCm39) T170A probably damaging Het
Retreg2 T G 1: 75,121,333 (GRCm39) *174G probably null Het
Rps6ka1 A G 4: 133,599,326 (GRCm39) S34P probably benign Het
Rptn A G 3: 93,305,780 (GRCm39) T1038A possibly damaging Het
Sel1l3 A T 5: 53,357,644 (GRCm39) V116D probably damaging Het
Sidt2 A T 9: 45,855,753 (GRCm39) Y509N probably damaging Het
Slc16a11 T A 11: 70,105,826 (GRCm39) probably null Het
Thsd7a G T 6: 12,379,470 (GRCm39) Q985K possibly damaging Het
Ttn T C 2: 76,556,882 (GRCm39) N30041S probably benign Het
Vmn1r231 A G 17: 21,110,840 (GRCm39) I25T probably damaging Het
Wdr81 T C 11: 75,332,623 (GRCm39) D1926G probably damaging Het
Other mutations in Mal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Mal APN 2 127,482,234 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CGCGAATATGGCTTGAATATGGC -3'
(R):5'- AAGCCTGGTTACCTCACCTG -3'

Sequencing Primer
(F):5'- ATGGCTTGAATATGGCTTCCTTTTG -3'
(R):5'- TGGACATCCTTCAAAGGCTG -3'
Posted On 2016-10-24