|Institutional Source||Beutler Lab|
|Gene Name||isoprenylcysteine carboxyl methyltransferase|
|Synonyms||pcCMT, prenylated protein carboxyl methyltransferase, STE14, HSTE14, prenylcysteine carboxyl methyltransferase, protein-S isoprenylcysteine O-methyltransferase, 1700008E11Rik, Gm13095|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1646 (G1)|
|Chromosomal Location||152297227-152307121 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 152299715 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 110 (V110E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043390 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048892] [ENSMUST00000151372]|
|Predicted Effect||possibly damaging
AA Change: V110E
PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: V110E
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2439|
|Coding Region Coverage||
|Validation Efficiency||96% (69/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null mutations result in reduced embryo size and death by E12. At E10.5, embryos homozygous for one null allele show severe anemia, extensive apoptosis in the neural tube and forebrain region, and liver agenesis due to a dramatic delay in albumin induction and failed hepatocyte outgrowth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Icmt||
(F):5'- AGGGACCATAGCTTCTCCTTCACC -3'
(R):5'- GAGTGGAGCCTGCCCTGTATAAAC -3'
(F):5'- AGGGAACCACACTTGTGC -3'
(R):5'- AGGCGGCTCAATGTCATC -3'