Incidental Mutation 'IGL01304:Mnt'
ID 73373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mnt
Ensembl Gene ENSMUSG00000000282
Gene Name max binding protein
Synonyms bHLHd3, Rox
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL01304
Quality Score
Status
Chromosome 11
Chromosomal Location 74721746-74736551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74733011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 48 (Y48N)
Ref Sequence ENSEMBL: ENSMUSP00000118435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000291] [ENSMUST00000132150]
AlphaFold O08789
Predicted Effect probably damaging
Transcript: ENSMUST00000000291
AA Change: Y280N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: Y280N

DomainStartEndE-ValueType
coiled coil region 3 53 N/A INTRINSIC
low complexity region 64 88 N/A INTRINSIC
low complexity region 100 125 N/A INTRINSIC
low complexity region 182 205 N/A INTRINSIC
HLH 228 279 2.99e-13 SMART
low complexity region 368 431 N/A INTRINSIC
low complexity region 469 481 N/A INTRINSIC
low complexity region 515 527 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132150
AA Change: Y48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118435
Gene: ENSMUSG00000000282
AA Change: Y48N

DomainStartEndE-ValueType
HLH 1 47 2.92e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133217
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a targeted null mutation are runted at birth and die within a few days, while mutant fibroblasts show abnormal cell cycling. Those homozygotes that survive are fertile and attain normal Heterozygotes for a conditional mammary epithelial specific knockout develop adenocarcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,204,153 (GRCm39) D79E probably benign Het
Aplf A C 6: 87,618,882 (GRCm39) S421A possibly damaging Het
Arnt T G 3: 95,355,696 (GRCm39) D13E probably damaging Het
Asap1 T C 15: 64,184,298 (GRCm39) E45G probably damaging Het
C2cd2l T C 9: 44,230,884 (GRCm39) N101S probably damaging Het
Cby2 T A 14: 75,830,085 (GRCm39) D36V possibly damaging Het
Chmp7 G A 14: 69,956,062 (GRCm39) P402L probably benign Het
Cir1 A T 2: 73,118,068 (GRCm39) probably null Het
Clock A G 5: 76,414,202 (GRCm39) probably null Het
Col18a1 T G 10: 76,911,975 (GRCm39) probably benign Het
Csf2ra G A 19: 61,215,271 (GRCm39) H115Y possibly damaging Het
Cspg5 T A 9: 110,085,236 (GRCm39) L469H probably damaging Het
Dapk2 T C 9: 66,139,139 (GRCm39) probably benign Het
F13a1 T C 13: 37,172,852 (GRCm39) D176G probably benign Het
Fbn2 T C 18: 58,194,817 (GRCm39) E1448G probably damaging Het
Gtf2b C T 3: 142,487,359 (GRCm39) S265L probably benign Het
Hmcn1 C T 1: 150,498,675 (GRCm39) G4068D probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ksr1 T C 11: 78,918,468 (GRCm39) Q562R probably damaging Het
Lrif1 C T 3: 106,639,049 (GRCm39) P20S probably damaging Het
Mamdc4 T C 2: 25,453,588 (GRCm39) T1194A possibly damaging Het
Med18 C A 4: 132,186,930 (GRCm39) A190S probably damaging Het
Mia2 G A 12: 59,151,324 (GRCm39) E105K probably damaging Het
Mpp4 A C 1: 59,188,678 (GRCm39) probably null Het
Or4b1b G A 2: 90,112,425 (GRCm39) P165S possibly damaging Het
Popdc3 T G 10: 45,194,005 (GRCm39) S269A probably benign Het
Ppp6r3 A T 19: 3,517,261 (GRCm39) M662K probably damaging Het
Qser1 C A 2: 104,617,976 (GRCm39) Q945H probably damaging Het
Rad52 A G 6: 119,895,594 (GRCm39) E198G probably damaging Het
Ranbp17 A G 11: 33,216,147 (GRCm39) V867A possibly damaging Het
Rdh16 G T 10: 127,649,365 (GRCm39) A274S probably benign Het
Slco1a5 G T 6: 142,187,876 (GRCm39) Q488K probably benign Het
Snai2 T C 16: 14,524,635 (GRCm39) I47T probably benign Het
Snw1 T C 12: 87,500,685 (GRCm39) D358G possibly damaging Het
Speg T C 1: 75,404,841 (GRCm39) F2878L probably benign Het
Spg11 T C 2: 121,902,771 (GRCm39) Y1386C probably damaging Het
Tgfb2 A C 1: 186,357,670 (GRCm39) I435S probably damaging Het
Ttc9b G A 7: 27,355,410 (GRCm39) D227N probably benign Het
Txndc2 T C 17: 65,945,448 (GRCm39) E243G possibly damaging Het
Usp28 A G 9: 48,938,119 (GRCm39) D563G probably damaging Het
Vmn1r77 T C 7: 11,775,962 (GRCm39) V178A probably damaging Het
Zfp316 A G 5: 143,240,181 (GRCm39) F613L probably benign Het
Zfp870 A T 17: 33,101,980 (GRCm39) C450S possibly damaging Het
Other mutations in Mnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0599:Mnt UTSW 11 74,733,122 (GRCm39) missense probably benign 0.09
R2100:Mnt UTSW 11 74,722,177 (GRCm39) missense probably damaging 1.00
R3076:Mnt UTSW 11 74,733,936 (GRCm39) intron probably benign
R3077:Mnt UTSW 11 74,733,936 (GRCm39) intron probably benign
R3078:Mnt UTSW 11 74,733,936 (GRCm39) intron probably benign
R3605:Mnt UTSW 11 74,727,746 (GRCm39) missense possibly damaging 0.89
R4601:Mnt UTSW 11 74,727,285 (GRCm39) missense possibly damaging 0.76
R5766:Mnt UTSW 11 74,733,904 (GRCm39) intron probably benign
R6340:Mnt UTSW 11 74,727,242 (GRCm39) missense probably damaging 1.00
R6988:Mnt UTSW 11 74,733,635 (GRCm39) intron probably benign
R7460:Mnt UTSW 11 74,734,109 (GRCm39) missense unknown
R7970:Mnt UTSW 11 74,733,036 (GRCm39) missense probably damaging 1.00
R8145:Mnt UTSW 11 74,733,799 (GRCm39) missense unknown
R8544:Mnt UTSW 11 74,722,218 (GRCm39) missense probably damaging 0.97
R9088:Mnt UTSW 11 74,733,880 (GRCm39) missense unknown
R9388:Mnt UTSW 11 74,727,450 (GRCm39) missense probably benign 0.05
Z1176:Mnt UTSW 11 74,727,501 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07