Incidental Mutation 'R4285:Mxd3'
ID 322038
Institutional Source Beutler Lab
Gene Symbol Mxd3
Ensembl Gene ENSMUSG00000021485
Gene Name Max dimerization protein 3
Synonyms Mad3, 4631412E13Rik, bHLHc13
MMRRC Submission 041080-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R4285 (G1)
Quality Score 132
Status Validated
Chromosome 13
Chromosomal Location 55472981-55477636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55477167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 31 (S31P)
Ref Sequence ENSEMBL: ENSMUSP00000021941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942]
AlphaFold Q80US8
Predicted Effect probably benign
Transcript: ENSMUST00000021941
AA Change: S31P

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485
AA Change: S31P

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
HLH 63 115 5.8e-11 SMART
low complexity region 119 138 N/A INTRINSIC
low complexity region 148 167 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021942
SMART Domains Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486

DomainStartEndE-ValueType
Pfam:PRELI 16 172 1.9e-61 PFAM
coiled coil region 178 215 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225561
Meta Mutation Damage Score 0.0903 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. The show an increased sensitivity to gamma irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl G A 3: 116,545,827 (GRCm39) S1323L possibly damaging Het
Ahnak T A 19: 8,994,203 (GRCm39) C5162* probably null Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cfap73 T C 5: 120,770,654 (GRCm39) K39E possibly damaging Het
Coq6 C T 12: 84,417,178 (GRCm39) probably benign Het
Dlc1 C T 8: 37,041,282 (GRCm39) E1316K possibly damaging Het
Dscam A G 16: 96,510,309 (GRCm39) probably null Het
Eya2 T A 2: 165,566,700 (GRCm39) N250K probably benign Het
Fat4 A G 3: 38,943,320 (GRCm39) I738V probably benign Het
Gria2 T G 3: 80,614,969 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,852,247 (GRCm39) D238E probably damaging Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Kctd19 G A 8: 106,109,581 (GRCm39) probably benign Het
Kdm1a T C 4: 136,309,347 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc1 C A 1: 153,110,298 (GRCm39) G1126W probably damaging Het
Magi3 C A 3: 103,923,184 (GRCm39) G1178* probably null Het
Man2a2 T C 7: 80,018,367 (GRCm39) D141G probably damaging Het
Map2k1 C A 9: 64,119,925 (GRCm39) V127L probably damaging Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Myo5b G A 18: 74,847,920 (GRCm39) E1053K probably benign Het
Nup50l T C 6: 96,142,733 (GRCm39) T104A probably benign Het
Or2m12 A C 16: 19,104,714 (GRCm39) F260V probably damaging Het
Or51a5 G T 7: 102,771,867 (GRCm39) Y37* probably null Het
Pex5l A G 3: 33,061,336 (GRCm39) I171T probably damaging Het
Plag1 A G 4: 3,905,654 (GRCm39) V12A probably benign Het
Podn C A 4: 107,878,893 (GRCm39) V180L possibly damaging Het
Prox2 T A 12: 85,141,698 (GRCm39) R168S probably benign Het
Prss29 A G 17: 25,541,231 (GRCm39) Y225C probably damaging Het
Rassf2 G A 2: 131,847,314 (GRCm39) T97I probably benign Het
Samm50 T C 15: 84,081,213 (GRCm39) V47A probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc20a2 G A 8: 23,051,365 (GRCm39) R466Q probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
St6galnac3 A C 3: 152,912,360 (GRCm39) V161G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vat1l A G 8: 114,932,523 (GRCm39) E23G probably damaging Het
Vmn2r91 A G 17: 18,356,030 (GRCm39) T566A probably benign Het
Wls A T 3: 159,639,902 (GRCm39) H511L probably benign Het
Zfp644 G A 5: 106,782,984 (GRCm39) T1130I probably damaging Het
Other mutations in Mxd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Mxd3 APN 13 55,477,091 (GRCm39) missense probably benign 0.01
PIT4508001:Mxd3 UTSW 13 55,473,707 (GRCm39) missense probably benign 0.00
R0071:Mxd3 UTSW 13 55,477,449 (GRCm39) missense probably damaging 1.00
R4683:Mxd3 UTSW 13 55,473,613 (GRCm39) missense probably benign
R5331:Mxd3 UTSW 13 55,477,071 (GRCm39) unclassified probably benign
R6828:Mxd3 UTSW 13 55,473,967 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CAATTCAGGAGTGTGAATGACC -3'
(R):5'- TGAATTTGGCTCCCAACCTG -3'

Sequencing Primer
(F):5'- GTACCTGGGCCAGAAGAAC -3'
(R):5'- CCCAACCTGGAGGGAGCAAG -3'
Posted On 2015-06-20