Incidental Mutation 'R8931:Rce1'
ID 713478
Institutional Source Beutler Lab
Gene Symbol Rce1
Ensembl Gene ENSMUSG00000024889
Gene Name Ras converting CAAX endopeptidase 1
Synonyms D19Ertd283e, D19Ertd98e
MMRRC Submission 068775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8931 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4672619-4675669 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 4674094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025823] [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000177696] [ENSMUST00000224675] [ENSMUST00000224707] [ENSMUST00000224726] [ENSMUST00000225264] [ENSMUST00000225375] [ENSMUST00000225476] [ENSMUST00000225896]
AlphaFold P57791
Predicted Effect silent
Transcript: ENSMUST00000025823
SMART Domains Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000224675
Predicted Effect silent
Transcript: ENSMUST00000224707
Predicted Effect probably benign
Transcript: ENSMUST00000224726
Predicted Effect silent
Transcript: ENSMUST00000225264
Predicted Effect silent
Transcript: ENSMUST00000225375
Predicted Effect unknown
Transcript: ENSMUST00000225476
AA Change: V198M
Predicted Effect probably benign
Transcript: ENSMUST00000225896
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 G C 17: 13,147,405 (GRCm39) P204R probably damaging Het
Aldh3b1 A G 19: 3,968,803 (GRCm39) I250T possibly damaging Het
Ankrd11 C T 8: 123,622,718 (GRCm39) R378K probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Arhgef19 T C 4: 140,976,603 (GRCm39) V455A probably damaging Het
BC051019 T C 7: 109,315,286 (GRCm39) E323G probably damaging Het
Bzw2 T C 12: 36,184,943 (GRCm39) N2S possibly damaging Het
Calm3 G C 7: 16,651,398 (GRCm39) F66L probably damaging Het
Carmil1 T A 13: 24,338,704 (GRCm39) T191S probably benign Het
Cemip2 T A 19: 21,770,323 (GRCm39) S104T probably benign Het
Cep170 A T 1: 176,597,377 (GRCm39) C389S probably benign Het
Clhc1 C T 11: 29,510,533 (GRCm39) Q195* probably null Het
Cttnbp2 A G 6: 18,434,808 (GRCm39) L350P probably benign Het
Cyp7a1 T C 4: 6,271,238 (GRCm39) E306G possibly damaging Het
Ddx25 T C 9: 35,465,864 (GRCm39) N119S possibly damaging Het
Ephx2 G T 14: 66,322,441 (GRCm39) probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fbln2 A T 6: 91,246,072 (GRCm39) I973F probably damaging Het
Fbn1 T C 2: 125,202,095 (GRCm39) I1259M probably damaging Het
Glis1 A G 4: 107,421,060 (GRCm39) H92R probably benign Het
Gm13283 A C 4: 88,679,516 (GRCm39) D169A probably benign Het
Gpr61 A G 3: 108,057,470 (GRCm39) L397P probably benign Het
H4c11 T A 13: 21,919,369 (GRCm39) I35N probably damaging Het
Hip1 A T 5: 135,460,297 (GRCm39) probably benign Het
Hmgcs2 C T 3: 98,203,557 (GRCm39) A222V probably damaging Het
Ifna2 G A 4: 88,601,712 (GRCm39) T102I probably benign Het
Kat6b T C 14: 21,674,995 (GRCm39) S387P probably damaging Het
Ldlr G A 9: 21,643,108 (GRCm39) V45M probably damaging Het
Mc3r A T 2: 172,091,515 (GRCm39) I246F possibly damaging Het
Mug1 G C 6: 121,861,296 (GRCm39) A1306P probably benign Het
Myo15a A G 11: 60,368,020 (GRCm39) E260G probably benign Het
Naa16 A G 14: 79,582,395 (GRCm39) Y565H probably damaging Het
Ndufaf7 A G 17: 79,244,950 (GRCm39) Y23C possibly damaging Het
Nop58 G A 1: 59,731,549 (GRCm39) probably null Het
Or6c33 A T 10: 129,853,769 (GRCm39) T180S possibly damaging Het
Or6c88 A T 10: 129,406,550 (GRCm39) T9S probably benign Het
Or7g19 T A 9: 18,855,920 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,971 (GRCm39) Q531* probably null Het
Pik3c2g A G 6: 139,821,093 (GRCm39) T297A probably benign Het
Poc1b T C 10: 99,028,861 (GRCm39) probably null Het
Prb1c G A 6: 132,338,897 (GRCm39) P107L Het
Prokr2 A G 2: 132,215,996 (GRCm39) V155A possibly damaging Het
Rnf148 A T 6: 23,654,704 (GRCm39) N97K possibly damaging Het
Setbp1 A G 18: 78,899,723 (GRCm39) S1315P probably benign Het
Sgcz A G 8: 38,107,140 (GRCm39) V124A probably damaging Het
Slc25a2 C A 18: 37,771,089 (GRCm39) G147C probably damaging Het
Slc28a2b C A 2: 122,348,983 (GRCm39) P303Q Het
Sod2 T C 17: 13,227,193 (GRCm39) L49P probably damaging Het
Tbc1d12 T C 19: 38,854,098 (GRCm39) V260A probably benign Het
Tcte2 C A 17: 13,933,410 (GRCm39) probably benign Het
Tenm3 T C 8: 48,688,637 (GRCm39) T2317A probably damaging Het
Tfcp2 T C 15: 100,402,298 (GRCm39) I500V possibly damaging Het
Trav14-3 C A 14: 54,001,112 (GRCm39) Q108K probably damaging Het
Trbv14 T C 6: 41,112,364 (GRCm39) Y54H probably damaging Het
Trpm3 T A 19: 22,744,034 (GRCm39) V337E probably damaging Het
Tsbp1 T C 17: 34,659,328 (GRCm39) probably benign Het
Uox A T 3: 146,318,047 (GRCm39) I14F probably damaging Het
Wdfy3 A G 5: 102,065,421 (GRCm39) V1249A probably benign Het
Zfp511 T C 7: 139,617,194 (GRCm39) Y97H probably damaging Het
Zfp536 G T 7: 37,268,721 (GRCm39) Q232K probably benign Het
Zng1 T G 19: 24,932,780 (GRCm39) K84N probably damaging Het
Other mutations in Rce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3079:Rce1 UTSW 19 4,674,750 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- AGATACTTCCCACACTGCTCTG -3'
(R):5'- GGCCCAGATGTCTCTAGTAACC -3'

Sequencing Primer
(F):5'- CGCAGCTGCTCAATAATGTG -3'
(R):5'- GATGTCTCTAGTAACCAGGCACTC -3'
Posted On 2022-05-19