Incidental Mutation 'R5710:Mxd4'
ID 501430
Institutional Source Beutler Lab
Gene Symbol Mxd4
Ensembl Gene ENSMUSG00000037235
Gene Name Max dimerization protein 4
Synonyms 2810410A03Rik, bHLHc12, Mad4
MMRRC Submission 044396-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5710 (G1)
Quality Score 153
Status Not validated
Chromosome 5
Chromosomal Location 34331227-34345064 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 34344671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042701] [ENSMUST00000042701] [ENSMUST00000119171]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
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
  • 1x: 99.2%
  • 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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G A 14: 68,847,357 (GRCm39) H713Y probably damaging Het
Adam39 A T 8: 41,277,684 (GRCm39) Y25F probably benign Het
Ankfn1 T C 11: 89,394,751 (GRCm39) N278S probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap18 G A 10: 26,736,729 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,081,732 (GRCm39) Q107P probably benign Het
Btbd9 A G 17: 30,447,842 (GRCm39) S525P probably benign Het
Cabin1 A G 10: 75,482,852 (GRCm39) S2093P probably benign Het
Ccnd1 T C 7: 144,491,781 (GRCm39) D86G possibly damaging Het
Chdh C A 14: 29,756,584 (GRCm39) Q337K probably damaging Het
Cldn9 T C 17: 23,902,421 (GRCm39) D68G probably damaging Het
Cpt1b T A 15: 89,309,409 (GRCm39) K41N probably damaging Het
Dsg1c T C 18: 20,405,408 (GRCm39) Y274H probably benign Het
Eif2ak3 T A 6: 70,860,717 (GRCm39) I431N probably damaging Het
Erbb2 T A 11: 98,317,906 (GRCm39) W416R probably damaging Het
Fgd3 T A 13: 49,450,205 (GRCm39) I15F probably benign Het
Fkbp14 T A 6: 54,566,255 (GRCm39) probably null Het
Havcr1 T C 11: 46,643,353 (GRCm39) V91A probably damaging Het
Kmt2d T C 15: 98,751,987 (GRCm39) probably benign Het
Lipc T A 9: 70,719,979 (GRCm39) I343F probably benign Het
Madd T C 2: 90,984,821 (GRCm39) T1331A probably damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mdga2 C A 12: 66,553,556 (GRCm39) L98F probably damaging Het
Micall1 C A 15: 79,011,290 (GRCm39) H553Q probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prtg T A 9: 72,716,922 (GRCm39) Y88N probably damaging Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Sclt1 C A 3: 41,618,398 (GRCm39) E14* probably null Het
Shfl G T 9: 20,784,192 (GRCm39) R138L possibly damaging Het
Strn G A 17: 78,995,028 (GRCm39) L162F probably damaging Het
T T C 17: 8,660,474 (GRCm39) S221P probably benign Het
Tbl1xr1 A G 3: 22,264,578 (GRCm39) D511G probably damaging Het
Ttc7 A C 17: 87,597,674 (GRCm39) N82T probably damaging Het
Ttn C T 2: 76,747,786 (GRCm39) R4421H possibly damaging Het
Uaca T A 9: 60,779,093 (GRCm39) L1158Q probably damaging Het
Vdr T C 15: 97,757,008 (GRCm39) Y288C probably damaging Het
Vdr A T 15: 97,765,089 (GRCm39) S217T probably benign Het
Zhx2 T A 15: 57,684,866 (GRCm39) Y78* probably null Het
Znhit1 C T 5: 137,011,456 (GRCm39) C119Y probably damaging Het
Other mutations in Mxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Mxd4 APN 5 34,341,690 (GRCm39) intron probably benign
IGL01373: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
R8208:Mxd4 UTSW 5 34,335,070 (GRCm39) missense probably benign 0.34
X0013:Mxd4 UTSW 5 34,344,769 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TACGCGTGGCACTGTTTAC -3'
(R):5'- CAGGATGGAGCTGAACTCTCTG -3'

Sequencing Primer
(F):5'- ACTGTTTACGGCGGCGG -3'
(R):5'- TACCTGGAGCGTAGGGAC -3'
Posted On 2017-12-01