|Institutional Source||Beutler Lab|
|Gene Name||protein O-glucosyltransferase 1|
|Synonyms||Rumi, Ktelc1, 9630046K23Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6796 (G1)|
|Chromosomal Location||38525137-38550258 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38529610 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 267 (Y267C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038166 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036210]|
|Predicted Effect||probably damaging
AA Change: Y267C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y267C
|Meta Mutation Damage Score||0.51|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Poglut1||
(F):5'- AGTGCTTACTGGACATTGGAGAG -3'
(R):5'- ACATACTGATGTGTCCTTGAAGA -3'
(F):5'- ACATTGGAGAGGTCGGTCTTGAC -3'
(R):5'- GTTGGTGTCAAGCTCACAAC -3'