Incidental Mutation 'IGL01373:Mxd4'
ID 278488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mxd4
Ensembl Gene ENSMUSG00000037235
Gene Name Max dimerization protein 4
Synonyms 2810410A03Rik, bHLHc12, Mad4
Accession Numbers
Essential gene? Not available question?
Stock # IGL01373
Quality Score
Status
Chromosome 5
Chromosomal Location 34331227-34345064 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 34341690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000039071
Gene: ENSMUSG00000037235

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000113300
Gene: ENSMUSG00000037235

DomainStartEndE-ValueType
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: ENSMUST00000201763
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Mxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Mxd4 APN 5 34,341,690 (GRCm39) intron probably benign
IGL03276:Mxd4 APN 5 34,335,088 (GRCm39) missense probably benign 0.26
R5343:Mxd4 UTSW 5 34,335,074 (GRCm39) missense probably benign 0.00
R5672:Mxd4 UTSW 5 34,335,044 (GRCm39) missense probably damaging 0.99
R5710:Mxd4 UTSW 5 34,344,671 (GRCm39) critical splice donor site probably null
R8208:Mxd4 UTSW 5 34,335,070 (GRCm39) missense probably benign 0.34
X0013:Mxd4 UTSW 5 34,344,769 (GRCm39) missense unknown
Posted On 2015-04-16