Incidental Mutation 'IGL01304:Mnt'
ID73373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mnt
Ensembl Gene ENSMUSG00000000282
Gene Namemax binding protein
SynonymsbHLHd3, Rox
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock #IGL01304
Quality Score
Status
Chromosome11
Chromosomal Location74830920-74845725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74842185 bp
ZygosityHeterozygous
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]
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: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Mnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0599:Mnt UTSW 11 74842296 missense probably benign 0.09
R2100:Mnt UTSW 11 74831351 missense probably damaging 1.00
R3076:Mnt UTSW 11 74843110 intron probably benign
R3077:Mnt UTSW 11 74843110 intron probably benign
R3078:Mnt UTSW 11 74843110 intron probably benign
R3605:Mnt UTSW 11 74836920 missense possibly damaging 0.89
R4601:Mnt UTSW 11 74836459 missense possibly damaging 0.76
R5766:Mnt UTSW 11 74843078 intron probably benign
R6340:Mnt UTSW 11 74836416 missense probably damaging 1.00
R6988:Mnt UTSW 11 74842809 intron probably benign
R7460:Mnt UTSW 11 74843283 missense unknown
Z1176:Mnt UTSW 11 74836675 missense probably damaging 1.00
Posted On2013-10-07