Incidental Mutation 'IGL03276:Mxd4'
ID 415427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mxd4
Ensembl Gene ENSMUSG00000037235
Gene Name Max dimerization protein 4
Synonyms 2810410A03Rik, Mad4, bHLHc12
Accession Numbers
Essential gene? Not available question?
Stock # IGL03276
Quality Score
Chromosome 5
Chromosomal Location 34173883-34187720 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34177744 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 99 (D99G)
Ref Sequence ENSEMBL: ENSMUSP00000113300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042701] [ENSMUST00000119171]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042701
AA Change: D109G

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039071
Gene: ENSMUSG00000037235
AA Change: D109G

low complexity region 2 24 N/A INTRINSIC
HLH 59 111 8.66e-10 SMART
low complexity region 172 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119171
AA Change: D99G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113300
Gene: ENSMUSG00000037235
AA Change: D99G

low complexity region 2 24 N/A INTRINSIC
HLH 48 101 9.22e-5 SMART
low complexity region 162 172 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201771
Coding Region Coverage
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 MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef25 A C 10: 127,185,925 F202V possibly damaging Het
Atrnl1 A T 19: 57,652,927 N336Y probably damaging Het
Bicc1 T C 10: 70,953,438 D381G possibly damaging Het
Cabin1 A T 10: 75,732,413 L912Q probably damaging Het
Fam83e A G 7: 45,723,460 D165G possibly damaging Het
Foxn1 T A 11: 78,371,124 T140S probably benign Het
Ggt1 A G 10: 75,580,497 probably benign Het
Kctd8 A T 5: 69,340,586 M239K possibly damaging Het
Kdm4d A T 9: 14,464,542 C7S probably benign Het
Kdm5a T A 6: 120,402,708 probably benign Het
Klrb1b T C 6: 128,815,205 N191S probably benign Het
Krt35 C T 11: 100,093,127 S349N probably benign Het
Krt75 A T 15: 101,568,376 D359E probably damaging Het
Lipo5 T C 19: 33,467,842 D109G unknown Het
Lsm12 T G 11: 102,182,944 I58L probably benign Het
Nlrp4a T A 7: 26,464,190 N927K probably damaging Het
Olfm2 A G 9: 20,668,787 probably benign Het
Pkhd1l1 T C 15: 44,594,584 V4103A possibly damaging Het
Slc30a9 T C 5: 67,349,917 probably benign Het
Snap91 T C 9: 86,825,012 T242A possibly damaging Het
Srp19 A C 18: 34,331,790 T28P probably damaging Het
Tenm2 C T 11: 36,072,776 V943I possibly damaging Het
Tgfb3 T C 12: 86,057,868 E384G probably damaging Het
Tmem39a T A 16: 38,585,284 N74K probably benign Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Other mutations in Mxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Mxd4 APN 5 34184346 intron probably benign
IGL01373:Mxd4 APN 5 34184346 intron probably benign
R5343:Mxd4 UTSW 5 34177730 missense probably benign 0.00
R5672:Mxd4 UTSW 5 34177700 missense probably damaging 0.99
R5710:Mxd4 UTSW 5 34187327 critical splice donor site probably null
R8208:Mxd4 UTSW 5 34177726 missense probably benign 0.34
X0013:Mxd4 UTSW 5 34187425 missense unknown
Posted On 2016-08-02