Incidental Mutation 'IGL02411:Maged2'
ID292292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maged2
Ensembl Gene ENSMUSG00000025268
Gene Namemelanoma antigen, family D, 2
SynonymsMage-d2, ORF1, 4833439A22Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02411
Quality Score
Status
ChromosomeX
Chromosomal Location150806370-150814345 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 150809759 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 343 (D343E)
Ref Sequence ENSEMBL: ENSMUSP00000108319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026302] [ENSMUST00000112697] [ENSMUST00000112699] [ENSMUST00000112700] [ENSMUST00000129768] [ENSMUST00000131241] [ENSMUST00000143843] [ENSMUST00000147152]
Predicted Effect probably benign
Transcript: ENSMUST00000026302
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026302
Gene: ENSMUSG00000025268
AA Change: D343E

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
low complexity region 226 261 N/A INTRINSIC
Pfam:MAGE 286 456 1.5e-58 PFAM
low complexity region 476 501 N/A INTRINSIC
low complexity region 541 584 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112697
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108317
Gene: ENSMUSG00000025268
AA Change: D343E

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
low complexity region 226 261 N/A INTRINSIC
Pfam:MAGE 286 456 1.5e-58 PFAM
low complexity region 476 501 N/A INTRINSIC
low complexity region 541 584 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112699
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108319
Gene: ENSMUSG00000025268
AA Change: D343E

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
low complexity region 226 261 N/A INTRINSIC
Pfam:MAGE 286 456 1.5e-58 PFAM
low complexity region 476 501 N/A INTRINSIC
low complexity region 541 584 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112700
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108320
Gene: ENSMUSG00000025268
AA Change: D343E

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
low complexity region 226 261 N/A INTRINSIC
MAGE 286 456 3.34e-91 SMART
low complexity region 476 501 N/A INTRINSIC
low complexity region 541 584 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124537
Predicted Effect probably benign
Transcript: ENSMUST00000129768
SMART Domains Protein: ENSMUSP00000115770
Gene: ENSMUSG00000025268

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131241
SMART Domains Protein: ENSMUSP00000120903
Gene: ENSMUSG00000025268

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143843
SMART Domains Protein: ENSMUSP00000119088
Gene: ENSMUSG00000025268

DomainStartEndE-ValueType
low complexity region 72 88 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
low complexity region 226 261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145342
Predicted Effect probably benign
Transcript: ENSMUST00000147152
SMART Domains Protein: ENSMUSP00000116332
Gene: ENSMUSG00000025268

DomainStartEndE-ValueType
low complexity region 66 76 N/A INTRINSIC
low complexity region 141 150 N/A INTRINSIC
low complexity region 157 192 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 is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). This gene may also be involved in several types of cancer, including breast cancer and melanoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably null Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1567S probably null Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Maged2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0626:Maged2 UTSW X 150811834 missense probably damaging 0.97
X0028:Maged2 UTSW X 150811903 missense probably damaging 0.96
Posted On2015-04-16