Incidental Mutation 'IGL00594:Mageb5b'
ID 332742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mageb5b
Ensembl Gene ENSMUSG00000064129
Gene Name MAGE family member B5B
Synonyms Gm14781
Accession Numbers
Essential gene? Not available question?
Stock # IGL00594
Quality Score
Status
Chromosome X
Chromosomal Location 90675800-90679277 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 90679091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 348 (Q348*)
Ref Sequence ENSEMBL: ENSMUSP00000077562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078469]
AlphaFold A2A9Q9
Predicted Effect probably null
Transcript: ENSMUST00000078469
AA Change: Q348*
SMART Domains Protein: ENSMUSP00000077562
Gene: ENSMUSG00000064129
AA Change: Q348*

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Pfam:MAGE 137 307 2.4e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,109 (GRCm39) T154A probably benign Het
Acox1 A G 11: 116,065,331 (GRCm39) probably benign Het
Adgrg2 G A X: 159,268,773 (GRCm39) V677I probably benign Het
Aifm1 T C X: 47,570,976 (GRCm39) T386A probably benign Het
Aspm T C 1: 139,415,160 (GRCm39) probably benign Het
Fgfr2 A G 7: 129,830,453 (GRCm39) V175A probably damaging Het
Gm382 T C X: 125,970,775 (GRCm39) Y987H probably benign Het
Golga3 A T 5: 110,352,841 (GRCm39) M911L probably benign Het
Hmgxb3 A G 18: 61,290,811 (GRCm39) V354A probably benign Het
Ifne T C 4: 88,798,041 (GRCm39) N126D probably benign Het
Igkv3-7 T C 6: 70,584,807 (GRCm39) V49A possibly damaging Het
Kbtbd8 A T 6: 95,103,494 (GRCm39) Y381F probably damaging Het
Klc1 C T 12: 111,743,318 (GRCm39) T215M probably damaging Het
Lrp2 A T 2: 69,316,624 (GRCm39) V2119E probably benign Het
Lrrc7 A G 3: 157,892,647 (GRCm39) V322A probably benign Het
Ms4a14 A G 19: 11,278,983 (GRCm39) S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 (GRCm39) Y168C probably damaging Het
Plcg2 C T 8: 118,282,810 (GRCm39) T97I possibly damaging Het
Rasgrp4 T C 7: 28,847,966 (GRCm39) probably benign Het
Rgs22 T C 15: 36,083,777 (GRCm39) H515R probably benign Het
Rpn1 G T 6: 88,072,611 (GRCm39) R318L probably damaging Het
Shroom2 A T X: 151,396,512 (GRCm39) F1359Y probably damaging Het
Tars3 T A 7: 65,325,880 (GRCm39) probably null Het
Tbc1d12 A G 19: 38,884,487 (GRCm39) E346G possibly damaging Het
Tbccd1 A G 16: 22,641,294 (GRCm39) F361S possibly damaging Het
Tenm1 G T X: 41,803,913 (GRCm39) P837T probably benign Het
Tmem144 A G 3: 79,746,474 (GRCm39) V27A probably benign Het
Zfp616 T A 11: 73,973,789 (GRCm39) N19K possibly damaging Het
Zkscan7 T C 9: 122,724,659 (GRCm39) Y543H possibly damaging Het
Posted On 2015-08-05