Incidental Mutation 'R1385:Mxd1'
ID 163208
Institutional Source Beutler Lab
Gene Symbol Mxd1
Ensembl Gene ENSMUSG00000001156
Gene Name MAX dimerization protein 1
Synonyms Mad1, Mad
MMRRC Submission 039447-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # R1385 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86624026-86646099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86628549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 62 (Q62L)
Ref Sequence ENSEMBL: ENSMUSP00000145081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001184] [ENSMUST00000203946] [ENSMUST00000204437]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000001184
AA Change: Q117L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001184
Gene: ENSMUSG00000001156
AA Change: Q117L

DomainStartEndE-ValueType
PDB:1PD7|B 5 28 6e-7 PDB
HLH 61 113 1.14e-9 SMART
low complexity region 143 175 N/A INTRINSIC
low complexity region 181 197 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203946
AA Change: Q62L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145081
Gene: ENSMUSG00000001156
AA Change: Q62L

DomainStartEndE-ValueType
HLH 6 58 4.8e-12 SMART
low complexity region 88 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204437
SMART Domains Protein: ENSMUSP00000145396
Gene: ENSMUSG00000001156

DomainStartEndE-ValueType
PDB:1PD7|B 5 28 3e-8 PDB
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency
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/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myelopoiesis, increased proliferative potential of bone marrow granulocytic precursors, increased sensitivity of myeloid cells to apoptosis-inducing stimuli, and inhibited cell cycle withdrawal during a late stage of granulocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,675,357 (GRCm39) S269P probably damaging Het
Arf3 A G 15: 98,640,494 (GRCm39) V43A probably damaging Het
Arhgap1 C A 2: 91,501,176 (GRCm39) N457K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bltp3b A G 10: 89,626,503 (GRCm39) N399S possibly damaging Het
Ccdc39 C T 3: 33,875,561 (GRCm39) E544K probably damaging Het
Cfap44 A G 16: 44,291,138 (GRCm39) E1546G probably damaging Het
Cntn6 A G 6: 104,838,861 (GRCm39) I900V probably benign Het
Edem1 A G 6: 108,823,645 (GRCm39) N347S probably damaging Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
Gemin2 A G 12: 59,064,932 (GRCm39) probably null Het
Hunk T A 16: 90,269,374 (GRCm39) V306E possibly damaging Het
Hydin A G 8: 111,249,836 (GRCm39) I2260V probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Itgbl1 A G 14: 123,898,923 (GRCm39) probably null Het
Iws1 T A 18: 32,223,483 (GRCm39) N630K probably benign Het
Lama2 C A 10: 27,100,039 (GRCm39) R822L probably benign Het
Lrrc56 A G 7: 140,785,438 (GRCm39) D130G probably damaging Het
Mageb11 T A X: 89,935,874 (GRCm39) C43S probably benign Het
Malrd1 A T 2: 16,047,039 (GRCm39) I1722F unknown Het
Mark4 G T 7: 19,159,952 (GRCm39) probably null Het
Muc5b T C 7: 141,415,874 (GRCm39) V2940A probably benign Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Nr2c2 T G 6: 92,131,451 (GRCm39) F171C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nynrin A T 14: 56,102,356 (GRCm39) Q675L probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocstamp T C 2: 165,237,959 (GRCm39) D435G probably benign Het
Pdzd2 T C 15: 12,411,108 (GRCm39) T553A probably benign Het
Pllp A G 8: 95,405,996 (GRCm39) Y96H probably benign Het
Polg2 A G 11: 106,659,149 (GRCm39) S455P probably damaging Het
Ppp1r9b A G 11: 94,883,037 (GRCm39) T222A probably benign Het
Prkcd G A 14: 30,329,362 (GRCm39) T26I probably damaging Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Prune2 A G 19: 17,102,312 (GRCm39) I2490M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Scn9a G A 2: 66,393,886 (GRCm39) P229L probably damaging Het
Serpinb5 A G 1: 106,803,853 (GRCm39) T180A probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sphk2 A G 7: 45,361,715 (GRCm39) I82T probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Treml1 T G 17: 48,667,226 (GRCm39) V37G probably damaging Het
Trim33 A G 3: 103,218,266 (GRCm39) K272E possibly damaging Het
Trpv6 T C 6: 41,598,063 (GRCm39) D748G probably benign Het
Ubr4 A G 4: 139,129,923 (GRCm39) H681R probably benign Het
Vmn2r82 A T 10: 79,232,325 (GRCm39) R775* probably null Het
Xpo1 T C 11: 23,211,863 (GRCm39) L8S probably damaging Het
Zfand4 G A 6: 116,250,599 (GRCm39) G10R probably damaging Het
Zfp119a T A 17: 56,172,826 (GRCm39) H339L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Mxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Mxd1 UTSW 6 86,644,388 (GRCm39) intron probably benign
R1510:Mxd1 UTSW 6 86,630,137 (GRCm39) missense possibly damaging 0.96
R1595:Mxd1 UTSW 6 86,628,453 (GRCm39) missense possibly damaging 0.93
R2126:Mxd1 UTSW 6 86,628,422 (GRCm39) critical splice donor site probably null
R3905:Mxd1 UTSW 6 86,627,942 (GRCm39) missense probably benign 0.44
R3907:Mxd1 UTSW 6 86,627,942 (GRCm39) missense probably benign 0.44
R3909:Mxd1 UTSW 6 86,627,942 (GRCm39) missense probably benign 0.44
R6048:Mxd1 UTSW 6 86,627,966 (GRCm39) missense probably damaging 1.00
R7060:Mxd1 UTSW 6 86,630,141 (GRCm39) missense probably damaging 1.00
R7351:Mxd1 UTSW 6 86,628,448 (GRCm39) missense probably damaging 1.00
R8969:Mxd1 UTSW 6 86,628,466 (GRCm39) missense probably benign 0.04
R9315:Mxd1 UTSW 6 86,627,926 (GRCm39) missense probably damaging 1.00
R9711:Mxd1 UTSW 6 86,645,554 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGAGCCCTAGCTTATCTGCTCTG -3'
(R):5'- AGCTCATGTGCCATGTGTCTTTCAG -3'

Sequencing Primer
(F):5'- CGACTCACCTCTATCAGAGTCA -3'
(R):5'- TGCATCTCCATGACAGGC -3'
Posted On 2014-03-17