Incidental Mutation 'IGL03246:Mageb11'
ID 414407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mageb11
Ensembl Gene ENSMUSG00000091497
Gene Name MAGE family member B11
Synonyms LOC212952, Gm44
Accession Numbers
Essential gene? Not available question?
Stock # IGL03246
Quality Score
Status
Chromosome X
Chromosomal Location 89935748-89936740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89936008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 87 (H87Q)
Ref Sequence ENSEMBL: ENSMUSP00000129722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172155]
AlphaFold G3UW88
Predicted Effect probably benign
Transcript: ENSMUST00000172155
AA Change: H87Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129722
Gene: ENSMUSG00000091497
AA Change: H87Q

DomainStartEndE-ValueType
MAGE_N 3 79 1.68e0 SMART
MAGE 98 268 7.16e-91 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,238 (GRCm39) H392Q probably benign Het
Alox8 T A 11: 69,076,841 (GRCm39) I547L probably damaging Het
Capn13 T C 17: 73,689,855 (GRCm39) H52R probably benign Het
Cfap57 T A 4: 118,433,842 (GRCm39) I979L probably benign Het
Ctdnep1 T C 11: 69,875,156 (GRCm39) probably benign Het
Ercc5 C A 1: 44,206,241 (GRCm39) P385T probably damaging Het
Fam98a C T 17: 75,845,848 (GRCm39) M299I probably damaging Het
Flcn A T 11: 59,684,936 (GRCm39) I505N possibly damaging Het
Fn1 G A 1: 71,663,455 (GRCm39) T1011I possibly damaging Het
Klhl28 T C 12: 65,004,060 (GRCm39) D151G probably benign Het
Klk13 T A 7: 43,370,422 (GRCm39) N28K probably damaging Het
Macc1 T C 12: 119,410,420 (GRCm39) V396A probably benign Het
Magi2 T A 5: 20,563,948 (GRCm39) I360K probably damaging Het
Myh7b T C 2: 155,459,792 (GRCm39) I251T probably damaging Het
Naalad2 A T 9: 18,296,395 (GRCm39) I85K possibly damaging Het
Or5ae1 T C 7: 84,565,919 (GRCm39) C311R probably benign Het
Pbrm1 A T 14: 30,832,506 (GRCm39) M1490L probably benign Het
Pclo C T 5: 14,727,631 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,507,485 (GRCm39) K357R possibly damaging Het
Pnpla6 C T 8: 3,581,530 (GRCm39) T601I probably benign Het
Pof1b A T X: 111,557,817 (GRCm39) N366K probably benign Het
Prr9 A G 3: 92,030,286 (GRCm39) probably benign Het
Ptprz1 G T 6: 22,986,159 (GRCm39) A320S probably damaging Het
Ripor1 A G 8: 106,342,490 (GRCm39) Y187C possibly damaging Het
Rnf13 A G 3: 57,676,471 (GRCm39) E42G probably damaging Het
Sdf4 T C 4: 156,085,154 (GRCm39) V163A probably benign Het
Smc2 C T 4: 52,440,301 (GRCm39) Q16* probably null Het
Srsf3-ps T A 11: 98,516,119 (GRCm39) R85* probably null Het
Tbck T A 3: 132,480,331 (GRCm39) C737S probably benign Het
Tra2a A T 6: 49,226,019 (GRCm39) Y140* probably null Het
Vcpip1 A C 1: 9,816,182 (GRCm39) L734V probably benign Het
Vmn1r87 G A 7: 12,866,288 (GRCm39) probably benign Het
Other mutations in Mageb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Mageb11 APN X 89,935,868 (GRCm39) missense probably benign 0.00
R1385:Mageb11 UTSW X 89,935,874 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02