Incidental Mutation 'R8555:Magee2'
ID 660083
Institutional Source Beutler Lab
Gene Symbol Magee2
Ensembl Gene ENSMUSG00000031224
Gene Name MAGE family member E2
Synonyms 9630059J11Rik, Mage-e2
MMRRC Submission 068518-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8555 (G1)
Quality Score 225.009
Status Validated
Chromosome X
Chromosomal Location 103898558-103900873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103900087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 188 (L188H)
Ref Sequence ENSEMBL: ENSMUSP00000033575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033575]
AlphaFold Q52KG3
Predicted Effect probably damaging
Transcript: ENSMUST00000033575
AA Change: L188H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033575
Gene: ENSMUSG00000031224
AA Change: L188H

DomainStartEndE-ValueType
MAGE 95 266 1.86e-57 SMART
MAGE 318 480 3.42e-47 SMART
low complexity region 500 516 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik C T 7: 50,250,010 (GRCm39) A348V possibly damaging Het
Alk A T 17: 72,228,869 (GRCm39) V732E probably damaging Het
Ccdc88a T C 11: 29,380,169 (GRCm39) S182P probably benign Het
Cyp2c70 T C 19: 40,172,345 (GRCm39) D99G probably benign Het
Dnah8 G T 17: 30,940,084 (GRCm39) E1677* probably null Het
Dop1b A G 16: 93,568,698 (GRCm39) T797A probably damaging Het
Fam181b A T 7: 92,729,296 (GRCm39) D23V probably damaging Het
Fbxo4 A T 15: 3,995,273 (GRCm39) V357D probably damaging Het
Gm4924 T C 10: 82,213,224 (GRCm39) probably benign Het
Grhl2 A G 15: 37,233,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,951 (GRCm39) K603R probably benign Het
Mfsd6l G A 11: 68,447,898 (GRCm39) V250I probably benign Het
Mroh9 T C 1: 162,899,595 (GRCm39) probably null Het
Ntsr1 A G 2: 180,180,470 (GRCm39) I259V probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or14j3 A G 17: 37,900,540 (GRCm39) S235P possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Pax2 T C 19: 44,750,128 (GRCm39) Y72H probably damaging Het
Pcdh10 A T 3: 45,334,030 (GRCm39) I115F probably benign Het
Pkp4 A T 2: 59,138,379 (GRCm39) R210* probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rpa2 A G 4: 132,499,481 (GRCm39) probably null Het
Sec31a T C 5: 100,540,273 (GRCm39) N471S probably benign Het
Serpinb9g A T 13: 33,676,796 (GRCm39) T193S probably benign Het
Sh3pxd2b C T 11: 32,361,469 (GRCm39) T227M probably benign Het
Speg A G 1: 75,378,908 (GRCm39) probably null Het
Suz12 T C 11: 79,922,817 (GRCm39) I653T probably damaging Het
Thsd7b C A 1: 129,523,191 (GRCm39) T75K probably damaging Het
Trav5-1 A C 14: 52,860,276 (GRCm39) Q27P probably damaging Het
Trim5 T C 7: 103,927,330 (GRCm39) probably null Het
Vmn1r174 A T 7: 23,453,970 (GRCm39) Y212F possibly damaging Het
Vmn2r110 G A 17: 20,804,618 (GRCm39) P101S probably damaging Het
Vmn2r17 A G 5: 109,600,810 (GRCm39) T703A probably damaging Het
Vmn2r84 A G 10: 130,230,100 (GRCm39) M4T probably benign Het
Zfp709 A G 8: 72,643,476 (GRCm39) T302A probably benign Het
Other mutations in Magee2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Magee2 APN X 103,900,447 (GRCm39) missense probably benign 0.05
IGL01700:Magee2 APN X 103,899,574 (GRCm39) missense possibly damaging 0.49
IGL02377:Magee2 APN X 103,900,399 (GRCm39) missense possibly damaging 0.86
IGL03231:Magee2 APN X 103,899,944 (GRCm39) missense probably damaging 1.00
IGL03366:Magee2 APN X 103,899,134 (GRCm39) nonsense probably null
R0741:Magee2 UTSW X 103,899,472 (GRCm39) missense probably damaging 1.00
X0009:Magee2 UTSW X 103,900,448 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGATTTCACTGTGAGCTCTAGAG -3'
(R):5'- AGATACTCAGACGAGCCTCAG -3'

Sequencing Primer
(F):5'- CTCAAATTCAAGGGGATTAGTGCC -3'
(R):5'- TCAGCTCATCTGGATCGGGTC -3'
Posted On 2021-01-18