Incidental Mutation 'IGL00696:Magea5'
ID 13598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magea5
Ensembl Gene ENSMUSG00000079349
Gene Name MAGE family member A5
Synonyms Mage-a5
Accession Numbers
Essential gene? Not available question?
Stock # IGL00696
Quality Score
Status
Chromosome X
Chromosomal Location 153836057-153846141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153836432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 320 (F320S)
Ref Sequence ENSEMBL: ENSMUSP00000132644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069556] [ENSMUST00000169540] [ENSMUST00000178950]
AlphaFold O89009
Predicted Effect possibly damaging
Transcript: ENSMUST00000069556
AA Change: F320S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065852
Gene: ENSMUSG00000079349
AA Change: F320S

DomainStartEndE-ValueType
Pfam:MAGE_N 5 87 1.2e-16 PFAM
Pfam:MAGE 103 273 1.5e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169540
AA Change: F320S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132644
Gene: ENSMUSG00000079349
AA Change: F320S

DomainStartEndE-ValueType
Pfam:MAGE_N 5 85 1.3e-8 PFAM
MAGE 103 273 1e-103 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178950
SMART Domains Protein: ENSMUSP00000136214
Gene: ENSMUSG00000055746

DomainStartEndE-ValueType
Pfam:MAGE_N 3 84 2.4e-16 PFAM
Pfam:MAGE 103 273 3e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,099,156 (GRCm39) E83G probably damaging Het
C1galt1 T C 6: 7,866,475 (GRCm39) V107A probably damaging Het
Dnah9 T C 11: 65,732,064 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,579 (GRCm39) S91P probably benign Het
Efl1 G A 7: 82,301,080 (GRCm39) probably benign Het
Foxa1 T C 12: 57,589,443 (GRCm39) Y259C probably damaging Het
Inpp5b T G 4: 124,636,328 (GRCm39) M1R probably null Het
Megf8 A G 7: 25,041,817 (GRCm39) I1244V probably benign Het
Scgb3a2 T A 18: 43,900,094 (GRCm39) probably benign Het
Spats2 A G 15: 99,108,775 (GRCm39) K375R probably damaging Het
Other mutations in Magea5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7765:Magea5 UTSW X 153,837,174 (GRCm39) missense possibly damaging 0.64
Posted On 2012-12-06