Mutagenetix > Incidental Mutation

Incidental Mutation 'R3079:Rce1'

265359

Institutional Source

Beutler Lab

Gene Symbol

Rce1

Ensembl Gene

ENSMUSG00000024889

Gene Name

Ras converting CAAX endopeptidase 1

Synonyms

D19Ertd283e, D19Ertd98e

MMRRC Submission

040569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3079 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

4672619-4675669 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 4674750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 138 (C138*)

Ref Sequence

ENSEMBL: ENSMUSP00000153448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025823] [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000177696] [ENSMUST00000224675] [ENSMUST00000225375] [ENSMUST00000225476] [ENSMUST00000225264] [ENSMUST00000224707] [ENSMUST00000225896] [ENSMUST00000224726]

AlphaFold

P57791

Predicted Effect

probably null
Transcript: ENSMUST00000025823
AA Change: C138*

SMART Domains

Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889
AA Change: C138*

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
transmembrane domain	112	134	N/A	INTRINSIC
Pfam:Abi	147	267	1.4e-19	PFAM
transmembrane domain	283	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068004

SMART Domains

Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:CPSase_L_chain	37	147	3.3e-45	PFAM
Pfam:ATP-grasp_4	149	334	3.9e-19	PFAM
Pfam:CPSase_L_D2	152	361	7.2e-77	PFAM
Pfam:Dala_Dala_lig_C	161	329	1.5e-11	PFAM
Biotin_carb_C	376	483	1.21e-50	SMART
low complexity region	513	541	N/A	INTRINSIC
Pfam:HMGL-like	564	838	8.2e-29	PFAM
Pfam:PYC_OADA	862	1062	1.4e-72	PFAM
Pfam:Biotin_lipoyl	1111	1178	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113825

SMART Domains

Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:CPSase_L_chain	36	146	1.1e-43	PFAM
Pfam:ATP-grasp_4	148	332	2.9e-19	PFAM
Pfam:CPSase_L_D2	151	360	4.2e-77	PFAM
Pfam:Dala_Dala_lig_C	158	328	7.9e-13	PFAM
Biotin_carb_C	375	482	1.21e-50	SMART
low complexity region	512	540	N/A	INTRINSIC
Pfam:HMGL-like	571	821	3.4e-28	PFAM
Pfam:PYC_OADA	861	1062	3.4e-69	PFAM
Pfam:Biotin_lipoyl	1110	1177	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177696

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF4554	274	719	5.3e-206	PFAM
low complexity region	720	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223788

Predicted Effect

probably null
Transcript: ENSMUST00000224675
AA Change: C34*

Predicted Effect

probably null
Transcript: ENSMUST00000225375
AA Change: C132*

Predicted Effect

probably null
Transcript: ENSMUST00000225476
AA Change: C138*

Predicted Effect

probably null
Transcript: ENSMUST00000225264
AA Change: C70*

Predicted Effect

probably null
Transcript: ENSMUST00000224707
AA Change: C34*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225509

Predicted Effect

probably benign
Transcript: ENSMUST00000225896

Predicted Effect

probably benign
Transcript: ENSMUST00000224726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of proteolytic processing and methylation of farnesylated Ras proteins, reduced size, and late-gestational or early postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,879 (GRCm39)	L168H	probably damaging	Het
Abca15	T	C	7: 119,984,392 (GRCm39)	W1158R	probably damaging	Het
Anks4b	A	T	7: 119,781,146 (GRCm39)	D59V	probably damaging	Het
Aqp11	A	T	7: 97,386,795 (GRCm39)	C134S	probably benign	Het
Arhgap35	A	G	7: 16,296,501 (GRCm39)	Y855H	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Cit	A	G	5: 116,063,545 (GRCm39)	D462G	probably damaging	Het
Col6a6	T	C	9: 105,631,422 (GRCm39)	R1494G	probably benign	Het
Edc4	T	C	8: 106,611,750 (GRCm39)	S109P	possibly damaging	Het
Elp4	T	C	2: 105,639,790 (GRCm39)	K130E	possibly damaging	Het
Gemin5	A	T	11: 58,036,345 (GRCm39)	V666E	probably damaging	Het
Hba-x	A	G	11: 32,227,616 (GRCm39)	D62G	probably damaging	Het
Hnrnpul1	A	T	7: 25,432,540 (GRCm39)	Y474*	probably null	Het
Ighv5-6	T	A	12: 113,589,237 (GRCm39)	D81V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Mrc2	T	C	11: 105,227,539 (GRCm39)	S591P	probably damaging	Het
Msh5	T	C	17: 35,265,208 (GRCm39)	E48G	probably benign	Het
Mybpc2	T	C	7: 44,155,505 (GRCm39)	D916G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,794 (GRCm39)	R236G	probably benign	Het
Obsl1	G	T	1: 75,467,467 (GRCm39)	R1436S	probably damaging	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or51a7	C	T	7: 102,622,254 (GRCm39)		probably null	Het
Padi2	T	C	4: 140,677,189 (GRCm39)	V659A	probably damaging	Het
Pnpla6	T	G	8: 3,591,512 (GRCm39)	S1169A	probably benign	Het
Pramel30	T	G	4: 144,058,098 (GRCm39)	L235R	probably damaging	Het
Prl6a1	A	G	13: 27,502,983 (GRCm39)	D193G	possibly damaging	Het
Shoc1	G	T	4: 59,047,848 (GRCm39)	T1257N	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint2	A	G	4: 112,496,870 (GRCm39)	T259A	probably benign	Het
Slc66a1	G	T	4: 139,033,829 (GRCm39)	A30D	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Slfn1	T	C	11: 83,011,986 (GRCm39)	V34A	probably benign	Het
Syt4	A	G	18: 31,574,738 (GRCm39)	V293A	probably benign	Het
Trh	T	C	6: 92,219,551 (GRCm39)	E255G	possibly damaging	Het
Ube4a	G	T	9: 44,871,371 (GRCm39)	N9K	probably damaging	Het
Uck1	A	T	2: 32,148,089 (GRCm39)		probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Wbp2	C	T	11: 115,970,534 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,346,636 (GRCm39)	I1672V	probably benign	Het

Other mutations in Rce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7092:Rce1	UTSW	19	4,673,118 (GRCm39)	missense	probably damaging	1.00
R7451:Rce1	UTSW	19	4,675,081 (GRCm39)	missense	probably damaging	1.00
R8231:Rce1	UTSW	19	4,675,078 (GRCm39)	missense	probably damaging	0.99
R8832:Rce1	UTSW	19	4,675,532 (GRCm39)	missense	unknown
R8931:Rce1	UTSW	19	4,674,094 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCTCCTTGAGTATCACAC -3'
(R):5'- AAGCTTCTGGTGTACATGGC -3'

Sequencing Primer
(F):5'- CCTTGAGTATCACACTTACAGGG -3'
(R):5'- GGCAAGGTCATTGGATTGT -3'

Posted On

2015-02-05