Incidental Mutation 'IGL01318:Magea13'
ID 73945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magea13
Ensembl Gene ENSMUSG00000046180
Gene Name MAGE family member A13
Synonyms 4930550L24Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01318
Quality Score
Status
Chromosome X
Chromosomal Location 57956821-57965664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57964829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 196 (I196N)
Ref Sequence ENSEMBL: ENSMUSP00000113812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062542] [ENSMUST00000118305]
AlphaFold Q99PA7
Predicted Effect probably damaging
Transcript: ENSMUST00000062542
AA Change: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051134
Gene: ENSMUSG00000046180
AA Change: I196N

DomainStartEndE-ValueType
low complexity region 32 70 N/A INTRINSIC
Pfam:MAGE 91 261 3.7e-49 PFAM
low complexity region 278 296 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118305
AA Change: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113812
Gene: ENSMUSG00000046180
AA Change: I196N

DomainStartEndE-ValueType
low complexity region 32 70 N/A INTRINSIC
MAGE 91 261 1.23e-98 SMART
low complexity region 278 296 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Magea13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03351:Magea13 APN X 57,964,297 (GRCm39) missense probably benign 0.14
Posted On 2013-10-07