Incidental Mutation 'R5442:Rem1'
ID427213
Institutional Source Beutler Lab
Gene Symbol Rem1
Ensembl Gene ENSMUSG00000000359
Gene Namerad and gem related GTP binding protein 1
SynonymsE030011C07Rik
MMRRC Submission 043007-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R5442 (G1)
Quality Score218
Status Not validated
Chromosome2
Chromosomal Location152626951-152635198 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 152628057 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000369] [ENSMUST00000150913]
Predicted Effect probably benign
Transcript: ENSMUST00000000369
SMART Domains Protein: ENSMUSP00000000369
Gene: ENSMUSG00000000359

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:Roc 82 198 1e-10 PFAM
Pfam:Ras 82 244 2.6e-32 PFAM
low complexity region 258 290 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139370
Predicted Effect probably null
Transcript: ENSMUST00000150913
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,018,768 M114T probably benign Het
Ablim3 A T 18: 61,857,225 probably null Het
Adcy10 A G 1: 165,513,140 D238G probably benign Het
Astn2 G T 4: 65,581,786 S955R possibly damaging Het
Casc3 A G 11: 98,821,471 E112G probably damaging Het
Cetn4 C T 3: 37,309,945 V39I probably benign Het
Commd4 A G 9: 57,156,806 V37A possibly damaging Het
Dyrk2 T C 10: 118,860,738 Q205R possibly damaging Het
Gal3st4 A G 5: 138,265,780 V319A possibly damaging Het
Gm14085 A G 2: 122,486,869 N36S probably benign Het
Inpp5d G A 1: 87,718,066 A1058T probably benign Het
Lpin3 A G 2: 160,905,016 Y781C probably damaging Het
Lrat C T 3: 82,903,220 V165M probably damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Nlrp6 T C 7: 140,922,190 S142P probably benign Het
Oas1a T C 5: 120,897,206 T349A probably benign Het
Olfr1033 T C 2: 86,041,951 V212A probably benign Het
Olfr110 A T 17: 37,499,439 I263F probably damaging Het
Olfr671 A T 7: 104,975,228 F252L possibly damaging Het
Olfr898 T A 9: 38,349,862 S260T probably benign Het
Pakap C A 4: 57,637,876 P18Q probably null Het
Pcdha2 T C 18: 36,939,862 V182A probably benign Het
Phactr3 A G 2: 178,142,461 D26G probably benign Het
Phrf1 G A 7: 141,240,937 R159H probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Rab3ip T C 10: 116,918,848 T268A probably benign Het
Rapgef3 T C 15: 97,758,861 D299G probably damaging Het
Syne1 A G 10: 5,343,473 M1286T probably benign Het
Thsd7a T C 6: 12,748,800 T52A probably benign Het
Tmem135 A T 7: 89,144,664 F390Y probably damaging Het
Trio T C 15: 27,856,194 D696G probably benign Het
Ttll11 T C 2: 35,903,123 *191W probably null Het
Ubr4 A G 4: 139,407,772 D805G probably damaging Het
Usp9y A G Y: 1,336,467 I1469T possibly damaging Het
Vmn1r70 G T 7: 10,633,950 A122S possibly damaging Het
Vmn2r78 G T 7: 86,920,122 L74F possibly damaging Het
Wdfy3 T C 5: 101,896,559 E1860G probably benign Het
Other mutations in Rem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1121:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1122:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1126:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1233:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1235:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1378:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1709:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1713:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1911:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R1912:Rem1 UTSW 2 152634535 missense probably damaging 0.96
R5853:Rem1 UTSW 2 152628280 missense possibly damaging 0.92
R6062:Rem1 UTSW 2 152628097 start codon destroyed probably null 1.00
R6072:Rem1 UTSW 2 152634517 missense probably benign
R7215:Rem1 UTSW 2 152628149 missense probably damaging 1.00
R7635:Rem1 UTSW 2 152634665 missense probably damaging 1.00
X0057:Rem1 UTSW 2 152629191 missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AATCTGCTTCTGGGTGCTC -3'
(R):5'- AGAGAGACTGACTGACCCAG -3'

Sequencing Primer
(F):5'- TGAGTGTTCAGAGCCTATGCCC -3'
(R):5'- CAGTCGGGGATGCTGGGATG -3'
Posted On2016-09-01