Incidental Mutation 'IGL01506:Magea4'
ID 89056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magea4
Ensembl Gene ENSMUSG00000033343
Gene Name MAGE family member A4
Synonyms Mage-a4
Accession Numbers
Essential gene? Not available question?
Stock # IGL01506
Quality Score
Status
Chromosome X
Chromosomal Location 71265623-71266570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71266376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 252 (D252N)
Ref Sequence ENSEMBL: ENSMUSP00000046715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048675]
AlphaFold F2Z493
Predicted Effect probably damaging
Transcript: ENSMUST00000048675
AA Change: D252N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046715
Gene: ENSMUSG00000033343
AA Change: D252N

DomainStartEndE-ValueType
MAGE_N 8 87 4.74e0 SMART
MAGE 103 273 1.82e-92 SMART
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 MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,247,447 (GRCm39) V2398A probably benign Het
Abhd2 T A 7: 78,975,200 (GRCm39) I130N possibly damaging Het
Adamts15 A T 9: 30,833,430 (GRCm39) I35N probably benign Het
Car8 T A 4: 8,169,761 (GRCm39) E249V probably damaging Het
Dpp8 A G 9: 64,970,699 (GRCm39) probably benign Het
Gstm2 T G 3: 107,892,559 (GRCm39) probably null Het
Kcnmb4 A G 10: 116,309,251 (GRCm39) V59A probably benign Het
Krt76 T C 15: 101,800,835 (GRCm39) I154V probably damaging Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Larp1b C A 3: 40,987,875 (GRCm39) Y32* probably null Het
Mat1a C A 14: 40,831,395 (GRCm39) A41E probably damaging Het
Neb A T 2: 52,137,202 (GRCm39) V3190E probably damaging Het
Nop53 G A 7: 15,674,082 (GRCm39) P249L probably damaging Het
Or8b44 A G 9: 38,410,171 (GRCm39) I69V probably benign Het
Osbpl7 T C 11: 96,943,126 (GRCm39) L126P probably benign Het
Plxna4 A T 6: 32,493,470 (GRCm39) L382Q probably damaging Het
Poli G A 18: 70,642,802 (GRCm39) T403I probably benign Het
Slc44a2 T C 9: 21,249,246 (GRCm39) Y9H probably benign Het
Snx4 T C 16: 33,084,624 (GRCm39) probably benign Het
Son A T 16: 91,454,174 (GRCm39) I974L possibly damaging Het
Stil T C 4: 114,881,309 (GRCm39) S618P probably benign Het
Syndig1 C T 2: 149,741,677 (GRCm39) R88C probably damaging Het
Trpm1 T A 7: 63,893,329 (GRCm39) F944L probably damaging Het
Posted On 2013-12-03