Incidental Mutation 'IGL01700:Magee2'
ID 104424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magee2
Ensembl Gene ENSMUSG00000031224
Gene Name MAGE family member E2
Synonyms 9630059J11Rik, Mage-e2
Accession Numbers
Essential gene? Not available question?
Stock # IGL01700
Quality Score
Status
Chromosome X
Chromosomal Location 103898558-103900873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103899574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 359 (I359T)
Ref Sequence ENSEMBL: ENSMUSP00000033575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033575]
AlphaFold Q52KG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000033575
AA Change: I359T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033575
Gene: ENSMUSG00000031224
AA Change: I359T

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
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,319,549 (GRCm39) M1778L probably benign Het
Aldh6a1 C T 12: 84,486,312 (GRCm39) C202Y probably damaging Het
Ankrd36 A G 11: 5,582,198 (GRCm39) T276A probably benign Het
Ankrd55 T C 13: 112,517,702 (GRCm39) I556T probably benign Het
Aqp4 A G 18: 15,532,922 (GRCm39) I57T probably benign Het
Atp1a1 T C 3: 101,501,574 (GRCm39) D43G possibly damaging Het
Cyld G A 8: 89,433,727 (GRCm39) R172H probably damaging Het
Ear2 A T 14: 44,340,716 (GRCm39) R125* probably null Het
Efcab9 T C 11: 32,477,451 (GRCm39) R24G probably damaging Het
F7 C A 8: 13,078,685 (GRCm39) Q39K probably benign Het
Galntl6 A T 8: 58,411,494 (GRCm39) probably benign Het
Kcnj5 A G 9: 32,233,925 (GRCm39) V130A probably damaging Het
Myh1 T G 11: 67,102,238 (GRCm39) I843S probably damaging Het
Nfat5 T A 8: 108,065,762 (GRCm39) M98K probably damaging Het
Nrip3 T A 7: 109,361,074 (GRCm39) N200I possibly damaging Het
Or6c219 A T 10: 129,781,810 (GRCm39) N40K probably damaging Het
Phkb A T 8: 86,744,094 (GRCm39) Q581L probably benign Het
Plxdc2 T C 2: 16,516,926 (GRCm39) V69A probably benign Het
Pou3f1 G T 4: 124,552,650 (GRCm39) W384L probably damaging Het
Prrc2a G A 17: 35,369,643 (GRCm39) S1890L possibly damaging Het
Psmc1 C A 12: 100,079,337 (GRCm39) P27H probably damaging Het
Pvr C A 7: 19,643,157 (GRCm39) A359S probably benign Het
Rasal1 A T 5: 120,814,882 (GRCm39) I711F probably benign Het
Ror1 C T 4: 100,266,968 (GRCm39) A223V probably damaging Het
Slc22a16 A T 10: 40,479,904 (GRCm39) I638L unknown Het
Slfn10-ps C T 11: 82,919,938 (GRCm39) noncoding transcript Het
Sptbn4 A G 7: 27,103,693 (GRCm39) L1176P probably damaging Het
Usp21 A T 1: 171,110,975 (GRCm39) F421I probably damaging Het
Utp25 G A 1: 192,800,573 (GRCm39) P416S probably damaging Het
Vmn1r61 T A 7: 5,614,202 (GRCm39) R37S possibly damaging Het
Vps13a G A 19: 16,722,221 (GRCm39) R364* probably null Het
Vps29 A G 5: 122,500,930 (GRCm39) Y165C probably damaging Het
Wdfy4 T C 14: 32,742,195 (GRCm39) probably benign Het
Wdr24 A G 17: 26,044,802 (GRCm39) D219G probably damaging Het
Xpo1 T C 11: 23,226,422 (GRCm39) probably benign Het
Zfp831 C A 2: 174,486,711 (GRCm39) T462K possibly damaging Het
Zswim5 T C 4: 116,843,658 (GRCm39) probably benign Het
Other mutations in Magee2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Magee2 APN X 103,900,447 (GRCm39) missense probably benign 0.05
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
R8555:Magee2 UTSW X 103,900,087 (GRCm39) missense probably damaging 1.00
X0009:Magee2 UTSW X 103,900,448 (GRCm39) missense probably benign
Posted On 2014-01-21