Incidental Mutation 'IGL01152:Mageb18'
ID53370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mageb18
Ensembl Gene ENSMUSG00000067649
Gene Namemelanoma antigen family B, 18
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01152
Quality Score
Status
ChromosomeX
Chromosomal Location92118879-92599572 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92119824 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 271 (W271R)
Ref Sequence ENSEMBL: ENSMUSP00000109588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088137] [ENSMUST00000113955]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088137
AA Change: W271R

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085460
Gene: ENSMUSG00000067649
AA Change: W271R

DomainStartEndE-ValueType
Pfam:MAGE_N 3 86 2.6e-20 PFAM
Pfam:MAGE 98 267 4.4e-58 PFAM
low complexity region 293 311 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113955
AA Change: W271R

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109588
Gene: ENSMUSG00000067649
AA Change: W271R

DomainStartEndE-ValueType
MAGE_N 3 84 2.96e-10 SMART
MAGE 98 267 1.37e-110 SMART
low complexity region 293 311 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Mageb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Mageb18 APN X 92120266 missense probably damaging 1.00
IGL02131:Mageb18 APN X 92120049 missense possibly damaging 0.77
Posted On2013-06-21