Incidental Mutation 'IGL02131:Mageb18'
ID 281174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mageb18
Ensembl Gene ENSMUSG00000067649
Gene Name MAGE family member B18
Synonyms B430216B18Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02131
Quality Score
Status
Chromosome X
Chromosomal Location 91162485-91643178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91163655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 196 (C196R)
Ref Sequence ENSEMBL: ENSMUSP00000109588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088137] [ENSMUST00000113955]
AlphaFold Q8BQR7
Predicted Effect possibly damaging
Transcript: ENSMUST00000088137
AA Change: C196R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085460
Gene: ENSMUSG00000067649
AA Change: C196R

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: C196R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109588
Gene: ENSMUSG00000067649
AA Change: C196R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,935,084 (GRCm39) probably benign Het
Adamts19 A G 18: 59,185,732 (GRCm39) Y1202C probably damaging Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Anxa8 A T 14: 33,812,588 (GRCm39) D46V possibly damaging Het
Ap4e1 A G 2: 126,903,849 (GRCm39) Y917C probably benign Het
Arhgap40 G A 2: 158,373,859 (GRCm39) probably null Het
Dnah17 A G 11: 117,963,734 (GRCm39) V2513A probably damaging Het
Dnhd1 T C 7: 105,370,009 (GRCm39) L4478P probably damaging Het
Dtx3 T C 10: 127,029,148 (GRCm39) D30G probably damaging Het
Fat2 A G 11: 55,199,868 (GRCm39) Y1069H probably damaging Het
Fbxo21 T A 5: 118,140,155 (GRCm39) N538K possibly damaging Het
Frem1 T C 4: 82,843,091 (GRCm39) T1748A probably benign Het
Kcnh6 T C 11: 105,911,001 (GRCm39) Y466H probably damaging Het
Kif2c G A 4: 117,035,150 (GRCm39) S41L possibly damaging Het
Kir3dl2 T A X: 135,358,462 (GRCm39) H52L possibly damaging Het
Mrpl9 T A 3: 94,352,020 (GRCm39) probably null Het
Nt5c1b A G 12: 10,425,491 (GRCm39) I345V possibly damaging Het
Or10a49 T C 7: 108,467,415 (GRCm39) *315W probably null Het
Or2j3 T A 17: 38,615,539 (GRCm39) H271L probably benign Het
Or8c11 A G 9: 38,289,203 (GRCm39) T9A probably benign Het
Parp8 T C 13: 117,047,409 (GRCm39) N221S probably benign Het
Plbd1 T C 6: 136,638,681 (GRCm39) probably benign Het
Recql5 C A 11: 115,814,068 (GRCm39) W86L probably benign Het
Rgs6 T C 12: 83,116,269 (GRCm39) S232P probably damaging Het
Rnf182 A G 13: 43,821,818 (GRCm39) H123R probably benign Het
Rtf2 A G 2: 172,308,212 (GRCm39) T204A unknown Het
Sema4d T C 13: 51,856,973 (GRCm39) probably null Het
Septin8 T C 11: 53,428,684 (GRCm39) S408P possibly damaging Het
Serpini1 A G 3: 75,548,011 (GRCm39) N396D probably benign Het
Slc26a2 A C 18: 61,331,884 (GRCm39) F516V possibly damaging Het
Tcf4 A G 18: 69,697,697 (GRCm39) probably benign Het
Trrap G T 5: 144,777,246 (GRCm39) G3045W probably damaging Het
Tspo2 T A 17: 48,756,089 (GRCm39) T91S possibly damaging Het
Ttn T C 2: 76,567,958 (GRCm39) D27645G probably damaging Het
Uba6 G T 5: 86,297,936 (GRCm39) T246K probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wwp2 T A 8: 108,278,950 (GRCm39) M136K probably damaging Het
Zranb3 A T 1: 127,920,688 (GRCm39) V412D probably damaging Het
Other mutations in Mageb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Mageb18 APN X 91,163,430 (GRCm39) missense possibly damaging 0.78
IGL02093:Mageb18 APN X 91,163,872 (GRCm39) missense probably damaging 1.00
Z1176:Mageb18 UTSW X 91,163,502 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16