Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Icmt'

173870

Institutional Source

Beutler Lab

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

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152381684-152391578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152384172 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048892
AA Change: V110E

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043390
Gene: ENSMUSG00000039662
AA Change: V110E

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000151372

SMART Domains

Protein: ENSMUSP00000133950
Gene: ENSMUSG00000039662

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
transmembrane domain	42	59	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Meta Mutation Damage Score

0.2439

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Dach1	A	G	14: 98,406,550 (GRCm39)	S66P	unknown	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Hells	A	T	19: 38,956,227 (GRCm39)	I808L	probably benign	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Ptk7	A	T	17: 46,897,223 (GRCm39)	F370I	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slamf9	A	G	1: 172,304,907 (GRCm39)	T174A	probably benign	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	Het

Other mutations in Icmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Icmt	APN	4	152,383,173 (GRCm39)	missense	possibly damaging	0.46
IGL03335:Icmt	APN	4	152,385,154 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGGGACCATAGCTTCTCCTTCACC -3'
(R):5'- GAGTGGAGCCTGCCCTGTATAAAC -3'

Sequencing Primer
(F):5'- AGGGAACCACACTTGTGC -3'
(R):5'- AGGCGGCTCAATGTCATC -3'

Posted On

2014-04-24