|Institutional Source||Beutler Lab|
|Gene Name||max binding protein|
|Is this an essential gene?||Probably essential (E-score: 0.938)|
|Stock #||R3605 (G1)|
|Chromosomal Location||74830920-74845725 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 74836920 bp|
|Amino Acid Change||Serine to Threonine at position 211 (S211T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000291] [ENSMUST00000132150]|
|Predicted Effect||possibly damaging
AA Change: S211T
PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: S211T
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0823|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
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||
|Other mutations in Mnt||
(F):5'- GATGCGAAGACCACAGTTGC -3'
(R):5'- CGCCATAATCTCCAGTGTTGC -3'
(F):5'- CACAGTTGCGCCCACTG -3'
(R):5'- TGTTGCTGAGGTCCGACAACAG -3'