Incidental Mutation 'IGL03335:Icmt'
ID 417014
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 # IGL03335
Quality Score
Status
Chromosome 4
Chromosomal Location 152381684-152391578 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 152385154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 205 (Y205*)
Ref Sequence ENSEMBL: ENSMUSP00000043390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048892] [ENSMUST00000151372]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048892
AA Change: Y205*
SMART Domains Protein: ENSMUSP00000043390
Gene: ENSMUSG00000039662
AA Change: Y205*

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 noncoding transcript
Transcript: ENSMUST00000134242
Predicted Effect probably benign
Transcript: ENSMUST00000151372
SMART Domains Protein: ENSMUSP00000133950
Gene: ENSMUSG00000039662

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,985,258 (GRCm39) V713A probably benign Het
Abtb3 A T 10: 85,494,222 (GRCm39) probably benign Het
Actr8 T C 14: 29,700,514 (GRCm39) V31A probably benign Het
Alcam A C 16: 52,111,366 (GRCm39) Y244* probably null Het
Ankrd24 A G 10: 81,482,967 (GRCm39) S972G probably benign Het
Aox1 T A 1: 58,115,319 (GRCm39) V768E probably damaging Het
Carmil2 A G 8: 106,423,661 (GRCm39) I1212V probably benign Het
Catsper1 C T 19: 5,386,339 (GRCm39) R191C probably damaging Het
Cenpe T A 3: 134,949,386 (GRCm39) V57D probably benign Het
Cpsf3 T C 12: 21,356,888 (GRCm39) probably null Het
Cubn A G 2: 13,365,140 (GRCm39) S1633P probably damaging Het
Dsg1c G A 18: 20,416,754 (GRCm39) R885Q probably benign Het
Egfl6 C A X: 165,321,689 (GRCm39) G272W probably damaging Het
Ermard T C 17: 15,279,668 (GRCm39) L486P probably damaging Het
F13b A T 1: 139,450,124 (GRCm39) L595F probably damaging Het
Foxm1 A G 6: 128,349,531 (GRCm39) N350S possibly damaging Het
Fras1 T C 5: 96,881,803 (GRCm39) probably benign Het
Gpr152 C A 19: 4,193,770 (GRCm39) T437N possibly damaging Het
Ints8 A T 4: 11,216,460 (GRCm39) F844I probably damaging Het
Mep1a T A 17: 43,788,064 (GRCm39) D664V possibly damaging Het
Muc4 T A 16: 32,574,449 (GRCm39) N966K probably benign Het
Myo7b T A 18: 32,118,073 (GRCm39) Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,850 (GRCm39) H2095R probably benign Het
Phldb1 A G 9: 44,639,366 (GRCm39) L4P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla8 T A 12: 44,329,947 (GRCm39) N166K probably benign Het
Qrfprl T C 6: 65,430,101 (GRCm39) probably null Het
Rapgef2 A G 3: 79,006,492 (GRCm39) M137T probably damaging Het
Rbm15b G A 9: 106,761,538 (GRCm39) H877Y probably damaging Het
Rbm45 T C 2: 76,206,777 (GRCm39) L263P probably damaging Het
Rprd1b T C 2: 157,916,884 (GRCm39) V288A probably damaging Het
Tmtc3 C A 10: 100,302,116 (GRCm39) V278L probably damaging Het
Tomm70a A G 16: 56,970,289 (GRCm39) T556A probably damaging Het
Trpc7 T C 13: 57,035,504 (GRCm39) E143G probably damaging Het
Trpm3 G T 19: 22,903,435 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,054,499 (GRCm39) E94G probably benign Het
Vmn1r174 T C 7: 23,453,937 (GRCm39) V201A probably benign Het
Zfp352 T C 4: 90,112,583 (GRCm39) F241S probably damaging Het
Other mutations in Icmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Icmt APN 4 152,383,173 (GRCm39) missense possibly damaging 0.46
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 2016-08-02