Incidental Mutation 'R3695:Mageb4'
ID 268964
Institutional Source Beutler Lab
Gene Symbol Mageb4
Ensembl Gene ENSMUSG00000035427
Gene Name MAGE family member B4
Synonyms CN716893, Mage-b4, mMage-b4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.017) question?
Stock # R3695 (G1)
Quality Score 222
Status Not 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: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik A T X: 111,466,012 (GRCm39) L187F probably damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn7l1 A G 12: 33,408,696 (GRCm39) N286S probably damaging Het
B430306N03Rik C T 17: 48,626,194 (GRCm39) T129I possibly damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dmrta1 T A 4: 89,580,415 (GRCm39) Y458* probably null Het
Gabrr2 A G 4: 33,071,430 (GRCm39) D65G probably damaging Het
Grin3a G T 4: 49,792,704 (GRCm39) T343K possibly damaging Het
Hsp90ab1 T C 17: 45,882,403 (GRCm39) D97G probably damaging Het
Mdm4 A G 1: 132,919,731 (GRCm39) L379S probably benign Het
Or8j3c T C 2: 86,253,987 (GRCm39) E11G probably damaging Het
Or8k40 A T 2: 86,584,215 (GRCm39) I289N probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Ppp2r2a C A 14: 67,257,199 (GRCm39) D344Y probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Skic2 A G 17: 35,066,888 (GRCm39) F154S probably damaging Het
St3gal2 A G 8: 111,688,973 (GRCm39) D171G probably damaging 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
Syk A G 13: 52,776,801 (GRCm39) probably null Het
Tgs1 A G 4: 3,604,949 (GRCm39) probably null Het
Tlr5 A T 1: 182,802,912 (GRCm39) R739W probably damaging Het
Tns2 G T 15: 102,021,184 (GRCm39) V942L probably null Het
Tsnaxip1 A G 8: 106,560,167 (GRCm39) T40A possibly damaging Het
Tub A G 7: 108,627,039 (GRCm39) S313G probably benign Het
Vmn2r77 A G 7: 86,450,044 (GRCm39) N97D probably damaging Het
Wscd2 T A 5: 113,689,078 (GRCm39) I28N possibly damaging Het
Other mutations in Mageb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3693:Mageb4 UTSW X 85,296,000 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCTTTCCTAGCAGTGGTG -3'
(R):5'- AGGCCATGTGGATTCCTAGAATAG -3'

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