Incidental Mutation 'R5672:Mxd4'
ID 442668
Institutional Source Beutler Lab
Gene Symbol Mxd4
Ensembl Gene ENSMUSG00000037235
Gene Name Max dimerization protein 4
Synonyms 2810410A03Rik, bHLHc12, Mad4
MMRRC Submission 043174-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5672 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 34331227-34345064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34335044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 114 (R114C)
Ref Sequence ENSEMBL: ENSMUSP00000113300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042701] [ENSMUST00000119171]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042701
AA Change: R124C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039071
Gene: ENSMUSG00000037235
AA Change: R124C

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 damaging
Transcript: ENSMUST00000119171
AA Change: R114C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113300
Gene: ENSMUSG00000037235
AA Change: R114C

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: ENSMUST00000201189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201771
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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
A4gnt A G 9: 99,502,383 (GRCm39) N181S possibly damaging Het
Abcf3 A T 16: 20,368,002 (GRCm39) Q74L probably benign Het
Ankrd13c T C 3: 157,666,664 (GRCm39) probably null Het
Bub1 A G 2: 127,646,800 (GRCm39) F827L possibly damaging Het
Cfap68 T C 9: 50,675,227 (GRCm39) T67A probably benign Het
Cyp2c55 A G 19: 39,023,990 (GRCm39) I355V probably benign Het
Dido1 A G 2: 180,313,696 (GRCm39) S319P probably damaging Het
Efna5 A T 17: 63,188,025 (GRCm39) V34D probably damaging Het
Fam131a G T 16: 20,518,389 (GRCm39) E88D probably damaging Het
Fsip2 A T 2: 82,817,838 (GRCm39) R4524* probably null Het
Gm6899 C T 11: 26,543,484 (GRCm39) probably benign Het
Iqcg C T 16: 32,839,878 (GRCm39) R356Q probably damaging Het
Itgae T A 11: 73,036,377 (GRCm39) I1105N possibly damaging Het
Klb T C 5: 65,537,292 (GRCm39) I874T possibly damaging Het
Klc3 T C 7: 19,130,256 (GRCm39) Y307C probably damaging Het
Lrp1b T A 2: 41,231,771 (GRCm39) H378L probably benign Het
Nrdc A T 4: 108,895,242 (GRCm39) R241* probably null Het
Ofcc1 G A 13: 40,433,905 (GRCm39) H67Y probably damaging Het
Or10ak9 A G 4: 118,726,379 (GRCm39) T134A possibly damaging Het
Or5p5 A G 7: 107,413,844 (GRCm39) T18A probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Pard3b G T 1: 62,049,625 (GRCm39) A128S probably benign Het
Plat T C 8: 23,263,664 (GRCm39) Y188H probably benign Het
Pop1 A G 15: 34,530,325 (GRCm39) K908E possibly damaging Het
Pten A G 19: 32,735,866 (GRCm39) I8V probably benign Het
Pwwp2a C T 11: 43,596,968 (GRCm39) A436V probably damaging Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sdk1 T C 5: 142,173,900 (GRCm39) C2023R possibly damaging Het
Serpina1d A C 12: 103,730,101 (GRCm39) D360E possibly damaging Het
Serpinb9b A G 13: 33,223,582 (GRCm39) D258G probably benign Het
Smgc G A 15: 91,726,108 (GRCm39) S18N possibly damaging Het
Snx27 A T 3: 94,410,157 (GRCm39) probably null Het
Spem1 T G 11: 69,712,263 (GRCm39) K134Q probably damaging Het
Srgap3 T A 6: 112,752,522 (GRCm39) M321L probably benign Het
Tanc1 T C 2: 59,602,697 (GRCm39) C163R possibly damaging Het
Ube2ql1 A T 13: 69,887,446 (GRCm39) L5H unknown Het
Ubn2 T C 6: 38,438,462 (GRCm39) I225T probably damaging Het
Vmn1r181 A C 7: 23,683,741 (GRCm39) T69P probably damaging Het
Vmn2r110 A G 17: 20,816,494 (GRCm39) F10L probably benign Het
Yeats2 T C 16: 19,980,779 (GRCm39) M236T 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
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
Predicted Primers PCR Primer
(F):5'- ATTGTGGATACCTGCAGCCAG -3'
(R):5'- TAACTGGTCACCTTGCTGGG -3'

Sequencing Primer
(F):5'- GCCAGAGGCCAGGATTG -3'
(R):5'- TGAGGAGAGGCATATTAAGCCTTTG -3'
Posted On 2016-11-09