Incidental Mutation 'R3693:Mageb4'
ID 268884
Institutional Source Beutler Lab
Gene Symbol Mageb4
Ensembl Gene ENSMUSG00000035427
Gene Name MAGE family member B4
Synonyms CN716893, Mage-b4, mMage-b4
MMRRC Submission 040688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.017) question?
Stock # R3693 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 85293862-85299825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85296000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 10 (R10S)
Ref Sequence ENSEMBL: ENSMUSP00000109602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096378] [ENSMUST00000113969]
AlphaFold A2A9R3
Predicted Effect probably damaging
Transcript: ENSMUST00000096378
AA Change: R10S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094107
Gene: ENSMUSG00000035427
AA Change: R10S

DomainStartEndE-ValueType
Pfam:MAGE_N 3 97 7e-24 PFAM
Pfam:MAGE 118 288 3e-52 PFAM
internal_repeat_1 311 408 1.8e-29 PROSPERO
internal_repeat_1 458 555 1.8e-29 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113969
AA Change: R10S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109602
Gene: ENSMUSG00000035427
AA Change: R10S

DomainStartEndE-ValueType
MAGE_N 3 95 1.15e-16 SMART
MAGE 118 288 1.17e-104 SMART
internal_repeat_1 311 408 1.8e-29 PROSPERO
internal_repeat_1 458 555 1.8e-29 PROSPERO
Meta Mutation Damage Score 0.4369 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik A T X: 111,466,012 (GRCm39) L187F probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Ccdc158 T C 5: 92,757,904 (GRCm39) E1056G probably damaging Het
Cdhr2 A G 13: 54,874,229 (GRCm39) Y767C probably damaging Het
Ces2e A G 8: 105,655,443 (GRCm39) D122G probably damaging Het
Cherp TTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTG 8: 73,221,755 (GRCm39) probably benign Het
Chsy3 A T 18: 59,309,080 (GRCm39) Q111L possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp11b2 C T 15: 74,727,857 (GRCm39) R75Q probably benign Het
Dnaja2 T C 8: 86,273,249 (GRCm39) K223E probably damaging Het
Dtx3 T C 10: 127,027,293 (GRCm39) I294V probably benign Het
Eps15l1 A G 8: 73,152,904 (GRCm39) probably benign Het
Exd2 A G 12: 80,527,467 (GRCm39) Y220C probably damaging Het
Eya1 A G 1: 14,299,725 (GRCm39) Y343H probably damaging Het
Hif3a T C 7: 16,774,999 (GRCm39) E533G probably damaging Het
Kalrn T A 16: 34,177,685 (GRCm39) Y178F probably damaging Het
Muc6 A G 7: 141,234,946 (GRCm39) probably benign Het
Myh11 C A 16: 14,035,813 (GRCm39) E1038D probably benign Het
Nfxl1 T C 5: 72,697,954 (GRCm39) Y297C probably damaging Het
Nop14 T C 5: 34,811,782 (GRCm39) K202E probably damaging Het
Or5b112 T C 19: 13,319,893 (GRCm39) I257T possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdha1 A T 18: 37,065,361 (GRCm39) K675I possibly damaging Het
Pigw A G 11: 84,769,209 (GRCm39) I40T probably benign Het
Pip5k1a A T 3: 94,985,498 (GRCm39) probably benign Het
Ptprh G T 7: 4,557,234 (GRCm39) Q687K probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Rft1 T A 14: 30,412,408 (GRCm39) C490S probably damaging Het
Rims2 A T 15: 39,341,971 (GRCm39) T887S probably benign Het
Ripk2 A T 4: 16,127,695 (GRCm39) L349Q probably benign Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Tas2r143 G A 6: 42,377,910 (GRCm39) V247I probably benign Het
Togaram1 A T 12: 65,030,283 (GRCm39) Y1029F probably benign Het
Ugt1a6b A G 1: 88,035,516 (GRCm39) T285A probably benign Het
Other mutations in Mageb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3695:Mageb4 UTSW X 85,296,000 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCTTGAGATTTAGACTTTTGAGG -3'
(R):5'- ATGACAGGCCATGTGGATTC -3'

Sequencing Primer
(F):5'- ATTTAGACTTTTGAGGGAAGCCAGC -3'
(R):5'- CAGGCCATGTGGATTCCTAGAATAG -3'
Posted On 2015-02-19