Incidental Mutation 'IGL03231:Magee2'
ID413912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magee2
Ensembl Gene ENSMUSG00000031224
Gene Namemelanoma antigen, family E, 2
Synonyms9630059J11Rik, Mage-e2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03231
Quality Score
Status
ChromosomeX
Chromosomal Location104854952-104857267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104856338 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 236 (L236M)
Ref Sequence ENSEMBL: ENSMUSP00000033575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033575]
Predicted Effect probably damaging
Transcript: ENSMUST00000033575
AA Change: L236M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033575
Gene: ENSMUSG00000031224
AA Change: L236M

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
Asic1 T A 15: 99,699,102 H548Q probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
Brs3 G T X: 57,045,444 C221F probably benign Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gm28043 A G 17: 29,635,942 D457G probably damaging Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nuak2 A T 1: 132,328,177 D188V probably damaging Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Rps6ka6 T A X: 111,450,321 T43S probably benign Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging Het
Other mutations in Magee2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Magee2 APN X 104856841 missense probably benign 0.05
IGL01700:Magee2 APN X 104855968 missense possibly damaging 0.49
IGL02377:Magee2 APN X 104856793 missense possibly damaging 0.86
IGL03366:Magee2 APN X 104855528 nonsense probably null
R0741:Magee2 UTSW X 104855866 missense probably damaging 1.00
X0009:Magee2 UTSW X 104856842 missense probably benign
Posted On2016-08-02