|Institutional Source||Beutler Lab|
|Gene Name||max binding protein|
|Is this an essential gene?||Probably essential (E-score: 0.943)|
|Stock #||R4601 (G1)|
|Chromosomal Location||74830920-74845725 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 74836459 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 57 (V57E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000291] [ENSMUST00000132150]|
|Predicted Effect||possibly damaging
AA Change: V57E
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V57E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- CCAGGCTGGGACAAAGTTAG -3'
(R):5'- TAATGCTGAGTCCAGGGGTG -3'
(F):5'- GCTGGGACAAAGTTAGGGTTG -3'
(R):5'- TGAGTCCAGGGGTGCTGAC -3'