Incidental Mutation 'IGL02903:Magee1'
ID363690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magee1
Ensembl Gene ENSMUSG00000031227
Gene Namemelanoma antigen, family E, 1
SynonymsmMage-e1, DAMAGE
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.041) question?
Stock #IGL02903
Quality Score
Status
ChromosomeX
Chromosomal Location105120378-105123927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 105123339 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 910 (R910L)
Ref Sequence ENSEMBL: ENSMUSP00000094078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033578]
Predicted Effect probably damaging
Transcript: ENSMUST00000033578
AA Change: R910L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094078
Gene: ENSMUSG00000031227
AA Change: R910L

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
internal_repeat_1 36 137 4.81e-11 PROSPERO
internal_repeat_1 197 298 4.81e-11 PROSPERO
low complexity region 310 329 N/A INTRINSIC
MAGE 466 636 7.82e-74 SMART
MAGE 713 875 1.09e-49 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 encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to mental retardation. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Magee1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2146:Magee1 UTSW X 105122958 missense probably damaging 0.98
R2148:Magee1 UTSW X 105122958 missense probably damaging 0.98
Posted On2015-12-18