Incidental Mutation 'R9719:Mal'
ID 730655
Institutional Source Beutler Lab
Gene Symbol Mal
Ensembl Gene ENSMUSG00000027375
Gene Name myelin and lymphocyte protein, T cell differentiation protein
Synonyms VIP17
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R9719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 127475146-127498615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127498025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 10 (S10N)
Ref Sequence ENSEMBL: ENSMUSP00000028854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028853] [ENSMUST00000028854]
AlphaFold O09198
Predicted Effect probably benign
Transcript: ENSMUST00000028853
AA Change: S10N

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028853
Gene: ENSMUSG00000027375
AA Change: S10N

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 possibly damaging
Transcript: ENSMUST00000028854
AA Change: S10N

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028854
Gene: ENSMUSG00000027375
AA Change: S10N

DomainStartEndE-ValueType
Pfam:MARVEL 18 145 6.6e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alppl2 T A 1: 87,016,136 (GRCm39) Q241L probably benign Het
Apob T A 12: 8,065,464 (GRCm39) N4144K probably benign Het
B4gat1 A G 19: 5,090,516 (GRCm39) H413R probably benign Het
Ccdc179 T C 7: 51,664,612 (GRCm39) T28A probably benign Het
Ceacam5 A C 7: 17,491,835 (GRCm39) D735A probably damaging Het
Col18a1 C T 10: 76,949,432 (GRCm39) D27N unknown Het
Colgalt1 A G 8: 72,073,456 (GRCm39) E359G probably benign Het
Crybg2 T A 4: 133,793,148 (GRCm39) I261N probably benign Het
Cyyr1 A T 16: 85,219,203 (GRCm39) L68Q unknown Het
Dgkz T A 2: 91,768,911 (GRCm39) probably null Het
Efcab3 A T 11: 104,867,912 (GRCm39) E3947V unknown Het
Eif2ak2 C A 17: 79,162,783 (GRCm39) D472Y probably damaging Het
Elp2 A G 18: 24,755,539 (GRCm39) T429A possibly damaging Het
Fen1 G A 19: 10,178,016 (GRCm39) H143Y probably benign Het
Gm10518 C A 1: 179,631,113 (GRCm39) R58S unknown Het
Hspa1b T C 17: 35,176,467 (GRCm39) D506G probably damaging Het
Inhca G T 9: 103,132,014 (GRCm39) P569H probably benign Het
Kcna7 A G 7: 45,056,390 (GRCm39) D202G probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Mgat2 T A 12: 69,232,115 (GRCm39) W230R probably damaging Het
Myo3a A T 2: 22,436,493 (GRCm39) T883S probably benign Het
Ncaph2 T C 15: 89,249,526 (GRCm39) S277P probably benign Het
Olfm3 G A 3: 114,916,091 (GRCm39) W341* probably null Het
Or13c7e-ps1 A C 4: 43,781,454 (GRCm39) M292R probably damaging Het
Or1p1 A C 11: 74,180,146 (GRCm39) I225L probably damaging Het
Or5b119 A G 19: 13,457,368 (GRCm39) S65P probably damaging Het
Or5d46 T A 2: 88,169,928 (GRCm39) N6K Het
Or5g26 T A 2: 85,494,608 (GRCm39) I57F probably benign Het
Or6z1 C A 7: 6,504,999 (GRCm39) M75I probably benign Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Ptpn14 T A 1: 189,583,484 (GRCm39) M777K probably benign Het
Rasef A G 4: 73,688,102 (GRCm39) I17T possibly damaging Het
Rptor A T 11: 119,781,940 (GRCm39) D1089V probably benign Het
Scel A T 14: 103,809,442 (GRCm39) probably null Het
Scfd2 A T 5: 74,386,004 (GRCm39) L605Q probably damaging Het
Son A G 16: 91,456,440 (GRCm39) E1729G probably damaging Het
Spata31e2 C G 1: 26,722,820 (GRCm39) E787Q probably benign Het
Spout1 A G 2: 30,065,813 (GRCm39) Y243H probably benign Het
Syne1 A G 10: 5,276,601 (GRCm39) F1765S possibly damaging Het
Tet2 A T 3: 133,191,803 (GRCm39) V877E possibly damaging Het
Txn2 T C 15: 77,812,289 (GRCm39) probably benign Het
Vmn1r158 T C 7: 22,489,331 (GRCm39) I293V possibly damaging Het
Vmn1r81 G A 7: 11,994,449 (GRCm39) T53I probably damaging Het
Vps18 T C 2: 119,127,553 (GRCm39) F792S probably damaging Het
Vps25 A G 11: 101,146,853 (GRCm39) D91G probably null Het
Wdr26 G A 1: 181,015,224 (GRCm39) L396F possibly damaging Het
Zfp1005 T A 2: 150,111,304 (GRCm39) C665S possibly damaging Het
Zfp26 T C 9: 20,347,861 (GRCm39) E901G possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTAGTTCCCTCCTGTGACTGGG -3'
(R):5'- ATTCAGCCTTGTCCTCTAGGGC -3'

Sequencing Primer
(F):5'- TGGGGACAGAGCTGCAG -3'
(R):5'- TGTCCTCTAGGGCAGTAGAC -3'
Posted On 2022-10-06