Incidental Mutation 'R2000:Magea10'
ID 225873
Institutional Source Beutler Lab
Gene Symbol Magea10
Ensembl Gene ENSMUSG00000043453
Gene Name MAGE family member A10
Synonyms
MMRRC Submission 040010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R2000 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 71425476-71430464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71426379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 205 (I205K)
Ref Sequence ENSEMBL: ENSMUSP00000085832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088481]
AlphaFold A2AMW4
Predicted Effect probably benign
Transcript: ENSMUST00000088481
AA Change: I205K

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085832
Gene: ENSMUSG00000043453
AA Change: I205K

DomainStartEndE-ValueType
MAGE_N 3 102 1.86e-7 SMART
MAGE 125 295 2.52e-109 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (62/63)
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. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf2 T C 2: 73,693,584 (GRCm39) probably null Het
Atrn T C 2: 130,777,508 (GRCm39) Y186H probably damaging Het
Birc6 T C 17: 74,911,614 (GRCm39) V1528A possibly damaging Het
Brpf3 A C 17: 29,040,531 (GRCm39) E984A probably benign Het
Btnl9 T C 11: 49,059,948 (GRCm39) N600S probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Casp8ap2 T A 4: 32,634,874 (GRCm39) L136H probably damaging Het
Cd46 A G 1: 194,760,012 (GRCm39) I280T probably benign Het
Cip2a A T 16: 48,835,332 (GRCm39) Q699L probably damaging Het
Crebbp A T 16: 3,902,116 (GRCm39) H2374Q probably damaging Het
Dock3 A G 9: 106,870,160 (GRCm39) probably benign Het
Dph7 T A 2: 24,861,653 (GRCm39) D355E probably benign Het
Dync1li1 C A 9: 114,542,631 (GRCm39) F264L probably benign Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Fosl1 A G 19: 5,500,383 (GRCm39) probably benign Het
Gabrr2 T A 4: 33,084,400 (GRCm39) I162N probably damaging Het
Gata6 T C 18: 11,054,113 (GRCm39) F14S probably benign Het
Gm15446 T C 5: 110,090,677 (GRCm39) S310P possibly damaging Het
Gmppa A C 1: 75,418,172 (GRCm39) D190A probably damaging Het
Gpr108 C T 17: 57,543,712 (GRCm39) G455S probably benign Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Gvin-ps6 G A 7: 106,022,438 (GRCm39) S188L probably benign Het
Gzf1 T C 2: 148,526,531 (GRCm39) I334T probably benign Het
Hadh A T 3: 131,038,888 (GRCm39) I156K probably benign Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Ice1 C T 13: 70,750,546 (GRCm39) V47M possibly damaging Het
Ifnl3 G T 7: 28,222,354 (GRCm39) A32S possibly damaging Het
Itsn2 T A 12: 4,716,176 (GRCm39) Y978* probably null Het
Kif1a G T 1: 92,982,051 (GRCm39) T792N probably damaging Het
Lgals9 T C 11: 78,863,996 (GRCm39) N50D probably benign Het
Lrp2 A G 2: 69,297,434 (GRCm39) Y3176H probably damaging Het
Lvrn A T 18: 47,038,374 (GRCm39) N976I probably benign Het
Myo1c A T 11: 75,561,405 (GRCm39) M820L probably damaging Het
Neb A T 2: 52,102,982 (GRCm39) C4222* probably null Het
Nkain2 T A 10: 32,766,281 (GRCm39) probably benign Het
Or10g6 A G 9: 39,933,985 (GRCm39) I99V probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Parp4 C T 14: 56,851,181 (GRCm39) T728M probably damaging Het
Pnma8a T A 7: 16,694,964 (GRCm39) V273D probably benign Het
Ppp1r9b A G 11: 94,887,446 (GRCm39) E486G probably damaging Het
Pth2 C A 7: 44,831,146 (GRCm39) R98S possibly damaging Het
Ramacl A T 13: 67,056,214 (GRCm39) N69I possibly damaging Het
Rif1 T A 2: 51,971,310 (GRCm39) F263I probably damaging Het
Rnf213 A T 11: 119,326,848 (GRCm39) I1613F probably damaging Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Rtl1 C A 12: 109,560,321 (GRCm39) W506L probably damaging Het
Slc4a4 C T 5: 89,176,206 (GRCm39) P59L probably damaging Het
Smarcad1 A G 6: 65,050,200 (GRCm39) E273G probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttf1 T A 2: 28,955,197 (GRCm39) L187Q possibly damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ufsp1 T C 5: 137,293,166 (GRCm39) probably null Het
Uox A C 3: 146,316,154 (GRCm39) K30Q possibly damaging Het
Ush1c A G 7: 45,870,857 (GRCm39) S327P probably damaging Het
Wwc1 A T 11: 35,767,374 (GRCm39) L419Q probably damaging Het
Xrn1 C T 9: 95,927,616 (GRCm39) Q1463* probably null Het
Yeats2 G A 16: 20,005,141 (GRCm39) A393T probably benign Het
Zfp101 C T 17: 33,600,491 (GRCm39) A422T possibly damaging Het
Other mutations in Magea10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01675:Magea10 APN X 71,426,721 (GRCm39) missense probably benign 0.04
R1998:Magea10 UTSW X 71,426,379 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CATAGAAAGGAGGGTTGCTGCC -3'
(R):5'- TCAGCAAGGCAGAAATCCTGAG -3'

Sequencing Primer
(F):5'- TTGCTGCCAGGCACATG -3'
(R):5'- CAAGGCAGAAATCCTGAGTAATATC -3'
Posted On 2014-08-25