Incidental Mutation 'R8843:Mxi1'
ID 674574
Institutional Source Beutler Lab
Gene Symbol Mxi1
Ensembl Gene ENSMUSG00000025025
Gene Name MAX interactor 1, dimerization protein
Synonyms bHLHc11, Mad2
MMRRC Submission 068670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R8843 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 53298509-53361724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53360126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 283 (G283S)
Ref Sequence ENSEMBL: ENSMUSP00000003870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003870] [ENSMUST00000025998] [ENSMUST00000086887] [ENSMUST00000111737]
AlphaFold P50540
Predicted Effect probably damaging
Transcript: ENSMUST00000003870
AA Change: G283S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003870
Gene: ENSMUSG00000025025
AA Change: G283S

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 damaging
Transcript: ENSMUST00000025998
AA Change: G216S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025998
Gene: ENSMUSG00000025025
AA Change: G216S

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 silent
Transcript: ENSMUST00000086887
Predicted Effect probably damaging
Transcript: ENSMUST00000111737
AA Change: G180S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107366
Gene: ENSMUSG00000025025
AA Change: G180S

DomainStartEndE-ValueType
HLH 37 89 4.4e-11 SMART
low complexity region 127 149 N/A INTRINSIC
Meta Mutation Damage Score 0.1507 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C G 9: 21,440,331 (GRCm39) Q106E probably benign Het
Abi2 A G 1: 60,492,888 (GRCm39) M387V probably null Het
Adra2c A T 5: 35,437,707 (GRCm39) N160Y probably damaging Het
Ager G A 17: 34,819,716 (GRCm39) R383H probably benign Het
Arhgef28 C T 13: 98,130,557 (GRCm39) R427H probably benign Het
Atl1 T A 12: 69,972,922 (GRCm39) S81T probably damaging Het
Ccdc80 T A 16: 44,947,470 (GRCm39) probably benign Het
Cdh10 T A 15: 19,013,487 (GRCm39) F696I possibly damaging Het
Cdk2ap2 T C 19: 4,147,429 (GRCm39) S2P unknown Het
Cela1 G A 15: 100,580,821 (GRCm39) T145I probably benign Het
Celsr2 A T 3: 108,303,443 (GRCm39) probably benign Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col22a1 A G 15: 71,878,503 (GRCm39) I218T probably damaging Het
Copb1 T C 7: 113,820,935 (GRCm39) I785V possibly damaging Het
Dnajc16 A T 4: 141,492,002 (GRCm39) V607E possibly damaging Het
Dnali1 A T 4: 124,957,414 (GRCm39) L110Q probably damaging Het
Epn1 A G 7: 5,096,375 (GRCm39) E223G probably benign Het
Erbb3 A G 10: 128,414,325 (GRCm39) L473P possibly damaging Het
Fhip1a A G 3: 85,568,318 (GRCm39) I1067T possibly damaging Het
Gadl1 T A 9: 115,835,569 (GRCm39) D332E probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Heg1 A G 16: 33,570,863 (GRCm39) S1188G probably null Het
Hipk3 G A 2: 104,268,242 (GRCm39) A575V probably benign Het
Htt T A 5: 35,046,809 (GRCm39) I2375N possibly damaging Het
Klhl24 A T 16: 19,938,980 (GRCm39) K512* probably null Het
Krtdap A T 7: 30,488,952 (GRCm39) Y40F probably damaging Het
Lhx1 A T 11: 84,410,455 (GRCm39) S381T probably benign Het
Lnpep G A 17: 17,773,203 (GRCm39) P655L probably damaging Het
Map6d1 A G 16: 20,055,386 (GRCm39) V150A probably benign Het
Marchf10 A G 11: 105,292,802 (GRCm39) S202P possibly damaging Het
Med1 A C 11: 98,080,102 (GRCm39) L13R possibly damaging Het
Myh7 T G 14: 55,212,752 (GRCm39) D1431A probably damaging Het
Myo3b G T 2: 70,088,325 (GRCm39) G863W probably damaging Het
Nat8f1 G T 6: 85,887,907 (GRCm39) Q18K probably benign Het
Ncaph A G 2: 126,950,529 (GRCm39) V576A probably benign Het
Nfkbia T G 12: 55,539,196 (GRCm39) D39A possibly damaging Het
Nrxn2 G T 19: 6,555,057 (GRCm39) G1179C probably damaging Het
Or12k8 A C 2: 36,975,307 (GRCm39) V151G probably damaging Het
P4ha1 A G 10: 59,205,455 (GRCm39) D495G probably damaging Het
Phf20 C T 2: 156,144,843 (GRCm39) A817V probably benign Het
Phlpp2 A T 8: 110,652,431 (GRCm39) I592F probably benign Het
Polq A G 16: 36,832,280 (GRCm39) S7G unknown Het
Ppfia3 G T 7: 44,997,941 (GRCm39) Q729K probably benign Het
Prmt8 A C 6: 127,706,462 (GRCm39) F110V probably damaging Het
Psca A T 15: 74,587,868 (GRCm39) probably null Het
Pus7 G T 5: 23,980,754 (GRCm39) D165E probably benign Het
Raver2 A G 4: 100,994,942 (GRCm39) E555G probably damaging Het
Rb1cc1 G A 1: 6,315,395 (GRCm39) V457M probably damaging Het
Rbp3 A G 14: 33,676,522 (GRCm39) R157G probably benign Het
Rin3 T G 12: 102,335,857 (GRCm39) H589Q probably benign Het
Scart2 A C 7: 139,828,913 (GRCm39) T191P possibly damaging Het
Sgk2 T A 2: 162,854,890 (GRCm39) S334T probably damaging Het
Sh2d4b T C 14: 40,614,832 (GRCm39) M31V probably benign Het
Slc23a3 G A 1: 75,106,271 (GRCm39) T316I probably damaging Het
Slc5a4b C A 10: 75,910,925 (GRCm39) G304C probably damaging Het
Slc7a14 A G 3: 31,311,759 (GRCm39) V87A probably damaging Het
Slitrk3 A T 3: 72,956,164 (GRCm39) N869K probably benign Het
St8sia6 T C 2: 13,661,896 (GRCm39) R312G possibly damaging Het
Strip2 A T 6: 29,923,968 (GRCm39) E94V probably benign Het
Sycp2 T C 2: 177,990,052 (GRCm39) D1398G probably damaging Het
Syne1 C A 10: 5,143,040 (GRCm39) V114F possibly damaging Het
Syne1 T C 10: 5,280,204 (GRCm39) K1630E probably benign Het
Sytl2 A G 7: 90,025,334 (GRCm39) N441D probably benign Het
Thsd7a A G 6: 12,501,136 (GRCm39) C424R Het
Tln2 T C 9: 67,302,827 (GRCm39) D48G probably damaging Het
Treml1 A G 17: 48,673,852 (GRCm39) T288A probably damaging Het
Ttn T C 2: 76,596,113 (GRCm39) I20267V probably benign Het
Ttn A T 2: 76,679,259 (GRCm39) V10821D unknown Het
Vmn2r111 A C 17: 22,767,011 (GRCm39) S829A probably benign Het
Xcl1 T A 1: 164,763,079 (GRCm39) probably benign Het
Zdhhc23 A T 16: 43,794,227 (GRCm39) V149E probably damaging Het
Zfp273 A T 13: 67,970,387 (GRCm39) I12F possibly damaging Het
Zfp874a A T 13: 67,590,764 (GRCm39) C307S 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
R4020: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
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'- AACTTCTGAAAGTGCACATGC -3'
(R):5'- TTGTTCTACCAGGGAGGCTCTAC -3'

Sequencing Primer
(F):5'- GCACATGCAGATTATTAATGCCC -3'
(R):5'- GGGAGGCTCTACCCCACTTTTC -3'
Posted On 2021-07-15