|Institutional Source||Beutler Lab|
|Gene Name||transcription factor EC|
|Synonyms||Tcfec, bHLHe34, TFEC|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4627 (G1)|
|Chromosomal Location||16833373-16898441 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 16840479 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 140 (S140P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031533 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031533] [ENSMUST00000202997]|
AA Change: S140P
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: S140P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, normally pigmented, have normal eyes and mast cells, and show no evidence of osteopetrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tfec||
(F):5'- AGGATGAGTCTTGGAAACACCTTG -3'
(R):5'- AAGGCTTCCTTTTGACTAACAGG -3'
(F):5'- TGGAAACACCTTGATGCCTG -3'
(R):5'- AGCTGACCAACAGTGAAC -3'