Incidental Mutation 'PIT4508001:Mxd3'
ID 556238
Institutional Source Beutler Lab
Gene Symbol Mxd3
Ensembl Gene ENSMUSG00000021485
Gene Name Max dimerization protein 3
Synonyms Mad3, 4631412E13Rik, bHLHc13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # PIT4508001 (G1)
Quality Score 136.008
Status Not validated
Chromosome 13
Chromosomal Location 55472981-55477636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55473707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 170 (D170E)
Ref Sequence ENSEMBL: ENSMUSP00000021941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942] [ENSMUST00000035242]
AlphaFold Q80US8
Predicted Effect probably benign
Transcript: ENSMUST00000021941
AA Change: D170E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485
AA Change: D170E

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 probably benign
Transcript: ENSMUST00000035242
SMART Domains Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789

DomainStartEndE-ValueType
RAB 8 175 2.39e-44 SMART
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 90.7%
  • 10x: 84.6%
  • 20x: 71.6%
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,176,128 (GRCm39) T1228A probably damaging Het
Actg2 A T 6: 83,489,989 (GRCm39) I370N possibly damaging Het
Ankrd36 A G 11: 5,557,137 (GRCm39) T330A possibly damaging Het
Atrip C T 9: 108,903,057 (GRCm39) A6T possibly damaging Het
Bms1 G A 6: 118,360,767 (GRCm39) R1234C probably benign Het
Cacnb2 A T 2: 14,989,230 (GRCm39) T487S probably benign Het
Cert1 T C 13: 96,767,284 (GRCm39) F478S probably damaging Het
Esco2 A T 14: 66,068,914 (GRCm39) V132E probably damaging Het
Gjb5 A T 4: 127,250,033 (GRCm39) L37Q probably damaging Het
Gm8020 T A 14: 42,324,234 (GRCm39) Y24F Het
H2bc8 CTCGACCATCACGTC CTC 13: 23,755,867 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,644,796 (GRCm39) L195P probably damaging Het
Hc T C 2: 34,874,816 (GRCm39) T1602A probably damaging Het
Hcrtr2 A T 9: 76,153,662 (GRCm39) Y243* probably null Het
Itga3 T C 11: 94,946,719 (GRCm39) H730R probably benign Het
Kif1a A T 1: 92,974,451 (GRCm39) L866Q probably damaging Het
Krt81 A T 15: 101,360,606 (GRCm39) L127Q probably damaging Het
Mdn1 T C 4: 32,719,223 (GRCm39) I2262T probably damaging Het
Myh2 A G 11: 67,076,331 (GRCm39) M811V probably benign Het
Naa16 A T 14: 79,606,527 (GRCm39) D335E probably benign Het
Nkd1 A G 8: 89,249,028 (GRCm39) T58A probably benign Het
Ogfrl1 T A 1: 23,409,351 (GRCm39) R292* probably null Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Or5w13 G A 2: 87,524,059 (GRCm39) H56Y probably damaging Het
Pom121l12 A G 11: 14,549,689 (GRCm39) R132G possibly damaging Het
Prss46 A G 9: 110,680,484 (GRCm39) K210E probably damaging Het
Scn8a T C 15: 100,927,573 (GRCm39) Y1351H probably damaging Het
Shisa9 G A 16: 12,085,344 (GRCm39) V318I probably benign Het
Slc41a2 T G 10: 83,090,744 (GRCm39) H480P probably damaging Het
Slc45a1 C A 4: 150,722,892 (GRCm39) A331S probably benign Het
Smg1 A T 7: 117,784,764 (GRCm39) F885I unknown Het
Speer4f1 T C 5: 17,685,412 (GRCm39) S236P unknown Het
Zfp326 A T 5: 106,062,556 (GRCm39) Q475L probably benign Het
Zzef1 T G 11: 72,786,002 (GRCm39) V2058G probably benign Het
Other mutations in Mxd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Mxd3 APN 13 55,477,091 (GRCm39) missense probably benign 0.01
R0071:Mxd3 UTSW 13 55,477,449 (GRCm39) missense probably damaging 1.00
R4285:Mxd3 UTSW 13 55,477,167 (GRCm39) missense probably benign 0.06
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'- CTAAGCCAACTTGTGTGGGG -3'
(R):5'- GCTCAAGGAAAAGCTTCGC -3'

Sequencing Primer
(F):5'- TGGGGGCCACTGACTGG -3'
(R):5'- GCTTCGCAGCAAACAGC -3'
Posted On 2019-06-07