Incidental Mutation 'R4020:Mxi1'
ID 312765
Institutional Source Beutler Lab
Gene Symbol Mxi1
Ensembl Gene ENSMUSG00000025025
Gene Name MAX interactor 1, dimerization protein
Synonyms bHLHc11, Mad2
MMRRC Submission 040954-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R4020 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 53298509-53361724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53360160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 294 (A294E)
Ref Sequence ENSEMBL: ENSMUSP00000003870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003870] [ENSMUST00000025998] [ENSMUST00000086887] [ENSMUST00000111737]
AlphaFold P50540
Predicted Effect probably benign
Transcript: ENSMUST00000003870
AA Change: A294E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003870
Gene: ENSMUSG00000025025
AA Change: A294E

DomainStartEndE-ValueType
low complexity region 16 45 N/A INTRINSIC
HLH 140 192 4.4e-11 SMART
low complexity region 230 252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025998
AA Change: A227E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025998
Gene: ENSMUSG00000025025
AA Change: A227E

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
HLH 73 125 4.4e-11 SMART
low complexity region 163 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086887
AA Change: R13L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000111737
AA Change: A191E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107366
Gene: ENSMUSG00000025025
AA Change: A191E

DomainStartEndE-ValueType
HLH 37 89 4.4e-11 SMART
low complexity region 127 149 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: This gene encodes a protein containing a helix-loop-helix domain characteristic of transcription factors, which allows heterodimerization and sequence-specific DNA binding. The encoded protein is related to a family of Myc/Max/Mad proteins that are involved in the regulation of several cellular processes. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate Myc function. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show multisystem anomalies including progressive hyperplasia in the spleen and prostate, degenerative changes in the kidney, and increased sensitivity to carcinogens. In addition, mutant embryo fibroblasts are more prone to transformation by the Myc and Ras oncogenes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G C 8: 89,035,362 (GRCm39) V89L probably benign Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Akr1b10 C T 6: 34,369,388 (GRCm39) T206I probably benign Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Apob C T 12: 8,044,914 (GRCm39) Q845* probably null Het
Asb4 A G 6: 5,390,803 (GRCm39) probably benign Het
Bltp1 A G 3: 37,066,724 (GRCm39) probably benign Het
C1ra A T 6: 124,496,736 (GRCm39) T391S probably benign Het
Catsperg2 C A 7: 29,416,429 (GRCm39) D328Y probably damaging Het
Ciapin1 G T 8: 95,555,814 (GRCm39) L119M probably damaging Het
Crhr2 A G 6: 55,077,765 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,406,407 (GRCm39) S455P probably benign Het
Dctn4 G A 18: 60,671,329 (GRCm39) probably benign Het
Defa25 C T 8: 21,575,245 (GRCm39) R75C probably benign Het
Dnajc10 T C 2: 80,175,296 (GRCm39) L561P probably damaging Het
Dnajc7 A T 11: 100,482,292 (GRCm39) F185L probably damaging Het
Dock9 T C 14: 121,844,267 (GRCm39) I1175V probably benign Het
Drosha T G 15: 12,837,422 (GRCm39) L302R possibly damaging Het
Efcab5 C T 11: 76,994,930 (GRCm39) V1214I probably benign Het
Erich3 G A 3: 154,419,686 (GRCm39) R260H probably damaging Het
Fam168b T C 1: 34,867,860 (GRCm39) T47A possibly damaging Het
Gorasp1 G A 9: 119,757,936 (GRCm39) R290C probably benign Het
Gtf2a1 A G 12: 91,539,351 (GRCm39) S94P possibly damaging Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Impdh1 T C 6: 29,202,693 (GRCm39) I446V probably benign Het
Krtap5-1 T C 7: 141,850,094 (GRCm39) probably null Het
Lipo3 T A 19: 33,764,804 (GRCm39) I17L probably benign Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lss T C 10: 76,383,278 (GRCm39) M526T probably damaging Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Mtrf1l T C 10: 5,767,454 (GRCm39) T221A probably benign Het
Muc21 T C 17: 35,930,953 (GRCm39) probably benign Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nfrkb T A 9: 31,325,407 (GRCm39) L950Q possibly damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or5b105 T G 19: 13,079,790 (GRCm39) K287Q probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pitrm1 A G 13: 6,606,723 (GRCm39) H259R probably damaging Het
Pllp C A 8: 95,406,072 (GRCm39) M70I possibly damaging Het
Pop1 A G 15: 34,508,926 (GRCm39) T334A probably benign Het
Prep T C 10: 44,968,894 (GRCm39) probably benign Het
Ptprz1 C A 6: 22,959,623 (GRCm39) probably benign Het
Sbsn A G 7: 30,455,390 (GRCm39) S170G probably damaging Het
Sco1 T G 11: 66,954,846 (GRCm39) S284A probably benign Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Trav7-6 A G 14: 53,954,638 (GRCm39) K56R probably benign Het
Ubr4 T G 4: 139,179,116 (GRCm39) C3322G probably damaging Het
Unc5a T C 13: 55,151,182 (GRCm39) Y608H probably damaging Het
Zfand1 A C 3: 10,405,816 (GRCm39) N262K probably benign Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H probably damaging Het
Other mutations in Mxi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1895:Mxi1 UTSW 19 53,358,775 (GRCm39) missense probably benign 0.13
R3691:Mxi1 UTSW 19 53,358,062 (GRCm39) missense probably damaging 1.00
R3774:Mxi1 UTSW 19 53,360,160 (GRCm39) missense probably benign 0.18
R3775:Mxi1 UTSW 19 53,360,160 (GRCm39) missense probably benign 0.18
R3776:Mxi1 UTSW 19 53,360,160 (GRCm39) missense probably benign 0.18
R4825:Mxi1 UTSW 19 53,358,769 (GRCm39) nonsense probably null
R4832:Mxi1 UTSW 19 53,358,745 (GRCm39) missense probably damaging 1.00
R7469:Mxi1 UTSW 19 53,360,091 (GRCm39) missense probably damaging 1.00
R7480:Mxi1 UTSW 19 53,360,066 (GRCm39) missense possibly damaging 0.91
R7487:Mxi1 UTSW 19 53,360,088 (GRCm39) missense probably damaging 1.00
R7891:Mxi1 UTSW 19 53,299,192 (GRCm39) missense probably benign 0.00
R8236:Mxi1 UTSW 19 53,358,029 (GRCm39) missense probably damaging 1.00
R8843:Mxi1 UTSW 19 53,360,126 (GRCm39) missense probably damaging 1.00
R8851:Mxi1 UTSW 19 53,360,126 (GRCm39) missense probably damaging 1.00
R8863:Mxi1 UTSW 19 53,360,126 (GRCm39) missense probably damaging 1.00
R8869:Mxi1 UTSW 19 53,360,126 (GRCm39) missense probably damaging 1.00
R8870:Mxi1 UTSW 19 53,360,126 (GRCm39) missense probably damaging 1.00
R9428:Mxi1 UTSW 19 53,299,213 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCACATGCAGATTATTAATGCCC -3'
(R):5'- TTCTACCAGGGAGGCTCTAC -3'

Sequencing Primer
(F):5'- TGTTTTCTCTTTCTTCCTCCCG -3'
(R):5'- GGGAGGCTCTACCCCACTTTTC -3'
Posted On 2015-04-30