Incidental Mutation 'IGL02442:Icmt'
ID 293452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Icmt
Ensembl Gene ENSMUSG00000039662
Gene Name isoprenylcysteine carboxyl methyltransferase
Synonyms 1700008E11Rik, HSTE14, prenylcysteine carboxyl methyltransferase, STE14, pcCMT, prenylated protein carboxyl methyltransferase, protein-S isoprenylcysteine O-methyltransferase, Gm13095
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02442
Quality Score
Status
Chromosome 4
Chromosomal Location 152381684-152391578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152383173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 76 (V76A)
Ref Sequence ENSEMBL: ENSMUSP00000133950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048892] [ENSMUST00000151372]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048892
AA Change: V76A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000043390
Gene: ENSMUSG00000039662
AA Change: V76A

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 42 59 N/A INTRINSIC
transmembrane domain 66 85 N/A INTRINSIC
Pfam:PEMT 158 263 2.6e-11 PFAM
Pfam:ICMT 163 257 3.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125617
Predicted Effect possibly damaging
Transcript: ENSMUST00000151372
AA Change: V76A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133950
Gene: ENSMUSG00000039662
AA Change: V76A

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 42 59 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,068,032 (GRCm39) E348G probably damaging Het
Ahnak G A 19: 8,981,380 (GRCm39) G888D probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap97d1 T C 11: 101,881,652 (GRCm39) V116A probably benign Het
Csde1 T C 3: 102,962,135 (GRCm39) C649R probably benign Het
Cym A C 3: 107,121,601 (GRCm39) D230E probably damaging Het
Dnah1 A T 14: 31,009,835 (GRCm39) I1911N probably damaging Het
Fat1 A G 8: 45,403,360 (GRCm39) H37R probably benign Het
Ggt6 T C 11: 72,327,632 (GRCm39) V146A possibly damaging Het
Glud1 T A 14: 34,057,395 (GRCm39) L54* probably null Het
Grk6 A G 13: 55,606,750 (GRCm39) probably benign Het
Gsta4 G A 9: 78,116,447 (GRCm39) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm39) V620M probably damaging Het
Hspe1 T C 1: 55,128,201 (GRCm39) probably benign Het
Ifrd1 A G 12: 40,266,316 (GRCm39) probably benign Het
Lgals12 T C 19: 7,584,019 (GRCm39) probably benign Het
Lypla1 T C 1: 4,902,610 (GRCm39) probably benign Het
Map1b A T 13: 99,644,706 (GRCm39) W66R probably damaging Het
Matn3 T A 12: 9,017,678 (GRCm39) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm39) R191W probably damaging Het
Mycbp2 T C 14: 103,551,811 (GRCm39) K140R probably benign Het
Ndfip1 C T 18: 38,580,789 (GRCm39) S66L probably damaging Het
Neu1 A G 17: 35,153,445 (GRCm39) I323V probably benign Het
Nup205 A T 6: 35,167,003 (GRCm39) T341S probably benign Het
Or4f7 G A 2: 111,644,336 (GRCm39) T245I probably benign Het
Or5b112 T A 19: 13,319,484 (GRCm39) C121S probably benign Het
Or5b3 T A 19: 13,388,351 (GRCm39) N139K probably benign Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Pkd1 T A 17: 24,784,200 (GRCm39) S249T probably benign Het
Plekhg3 A T 12: 76,625,127 (GRCm39) Q1324L probably benign Het
Ppara T A 15: 85,685,344 (GRCm39) V431E probably benign Het
Prkaa1 T G 15: 5,206,369 (GRCm39) H408Q probably damaging Het
Sap25 T A 5: 137,640,257 (GRCm39) N108K probably benign Het
Setd5 A C 6: 113,087,341 (GRCm39) I81L possibly damaging Het
Sinhcaf A T 6: 148,830,005 (GRCm39) probably null Het
Sri T A 5: 8,112,411 (GRCm39) M78K probably damaging Het
Tyro3 A G 2: 119,639,349 (GRCm39) N352S probably benign Het
Ubr5 T A 15: 38,038,145 (GRCm39) E332V possibly damaging Het
Vmn2r19 G T 6: 123,286,621 (GRCm39) V85F possibly damaging Het
Vmn2r53 A T 7: 12,315,656 (GRCm39) V721D probably damaging Het
Vwa5a A G 9: 38,646,080 (GRCm39) M483V probably benign Het
Zfp786 T A 6: 47,798,301 (GRCm39) Q212H probably benign Het
Other mutations in Icmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03335:Icmt APN 4 152,385,154 (GRCm39) nonsense probably null
R1646:Icmt UTSW 4 152,384,172 (GRCm39) missense possibly damaging 0.68
R7921:Icmt UTSW 4 152,387,615 (GRCm39) missense probably damaging 1.00
R8296:Icmt UTSW 4 152,387,482 (GRCm39) missense probably benign 0.01
R9024:Icmt UTSW 4 152,385,161 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16