|Institutional Source||Beutler Lab|
|Gene Name||undifferentiated embryonic cell transcription factor 1|
|Is this an essential gene?||Possibly essential (E-score: 0.659)|
|Stock #||R7503 (G1)|
|Chromosomal Location||139943789-139945112 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 139944133 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 87 (D87G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128848 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000168457]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: D87G
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D87G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation and background sensitive neo- and postnatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Utf1||
(F):5'- GTGACTACGTCTGATGCCTTCG -3'
(R):5'- ACATGGCTGCTCCTACCTTG -3'
(F):5'- GATGCCTTCGCTACTTCGGG -3'
(R):5'- CAATAGCCCCATGAGTTGGC -3'