Incidental Mutation 'R1709:Rem1'
ID 190288
Institutional Source Beutler Lab
Gene Symbol Rem1
Ensembl Gene ENSMUSG00000000359
Gene Name rad and gem related GTP binding protein 1
Synonyms E030011C07Rik
MMRRC Submission 039742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1709 (G1)
Quality Score 85
Status Not validated
Chromosome 2
Chromosomal Location 152468928-152477111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152476455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 238 (V238M)
Ref Sequence ENSEMBL: ENSMUSP00000000369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000369]
AlphaFold O35929
Predicted Effect probably damaging
Transcript: ENSMUST00000000369
AA Change: V238M

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000369
Gene: ENSMUSG00000000359
AA Change: V238M

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
Meta Mutation Damage Score 0.2146 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,566,942 (GRCm39) K152E probably benign Het
Adgrd1 T C 5: 129,256,292 (GRCm39) V641A possibly damaging Het
Adgrv1 A T 13: 81,741,179 (GRCm39) V95E probably damaging Het
Agbl5 G A 5: 31,063,585 (GRCm39) C872Y probably damaging Het
Aldh1a7 G T 19: 20,693,316 (GRCm39) T201K probably damaging Het
Aox1 C T 1: 58,116,633 (GRCm39) A788V probably benign Het
Apob T C 12: 8,059,306 (GRCm39) V2563A probably damaging Het
Atcay G A 10: 81,049,065 (GRCm39) T179I probably damaging Het
Atf5 A T 7: 44,462,707 (GRCm39) L139Q probably benign Het
Atp13a3 T C 16: 30,134,659 (GRCm39) T1205A probably benign Het
Atr C T 9: 95,753,129 (GRCm39) T656I probably benign Het
Bloc1s3 T C 7: 19,241,453 (GRCm39) E25G possibly damaging Het
Brap T C 5: 121,803,353 (GRCm39) probably null Het
C6 G T 15: 4,820,452 (GRCm39) A488S probably benign Het
Ccin T C 4: 43,984,133 (GRCm39) F180S probably damaging Het
Cd207 T C 6: 83,649,818 (GRCm39) I256V possibly damaging Het
Cdc42bpa G T 1: 179,894,789 (GRCm39) C323F probably damaging Het
Cfap57 T C 4: 118,428,901 (GRCm39) T1022A probably benign Het
Cmtr2 A T 8: 110,948,581 (GRCm39) Q297L probably benign Het
Coro7 A T 16: 4,452,305 (GRCm39) probably null Het
Cpsf2 T A 12: 101,965,801 (GRCm39) Y589N probably damaging Het
Cpxm2 T C 7: 131,661,563 (GRCm39) Y408C probably damaging Het
Crocc A G 4: 140,753,410 (GRCm39) probably null Het
Cryzl1 A C 16: 91,509,124 (GRCm39) F59C probably damaging Het
Csmd2 T C 4: 128,389,988 (GRCm39) V2241A probably damaging Het
Cxcl15 C A 5: 90,949,275 (GRCm39) H147N unknown Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dnah10 C T 5: 124,837,155 (GRCm39) P966L probably damaging Het
Dpp9 T A 17: 56,501,431 (GRCm39) M594L probably benign Het
Dspp C A 5: 104,323,590 (GRCm39) N244K probably damaging Het
Efcab8 T A 2: 153,656,290 (GRCm39) probably null Het
Elapor2 C T 5: 9,490,726 (GRCm39) R579* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw17 A G 13: 50,585,693 (GRCm39) M299V probably benign Het
Fbxw7 T A 3: 84,883,659 (GRCm39) I530N probably damaging Het
Gp2 C A 7: 119,050,808 (GRCm39) D308Y probably null Het
Gpd2 G A 2: 57,247,667 (GRCm39) V537M probably damaging Het
Gpr18 T A 14: 122,149,404 (GRCm39) Y207F probably damaging Het
Grip1 A T 10: 119,733,620 (GRCm39) D20V probably damaging Het
Gzmf A C 14: 56,444,397 (GRCm39) F59V probably damaging Het
H3c1 T A 13: 23,945,964 (GRCm39) I125F probably damaging Het
Igfn1 T C 1: 135,883,311 (GRCm39) I2732V probably benign Het
Ipo8 A T 6: 148,684,226 (GRCm39) D855E probably benign Het
Klrk1 A T 6: 129,591,682 (GRCm39) probably null Het
Megf11 A G 9: 64,602,694 (GRCm39) Y876C probably damaging Het
Mettl8 G T 2: 70,812,495 (GRCm39) Q12K probably benign Het
Mrgprf T C 7: 144,861,954 (GRCm39) F172S probably benign Het
Mycbp2 G A 14: 103,461,852 (GRCm39) T1432I probably damaging Het
Nek11 A C 9: 105,225,260 (GRCm39) L84R probably damaging Het
Nlrp1b T C 11: 71,092,099 (GRCm39) E9G probably benign Het
Nrxn1 T C 17: 90,344,615 (GRCm39) I433V probably damaging Het
Nup153 A G 13: 46,847,450 (GRCm39) C660R probably damaging Het
Or1o11 T A 17: 37,757,091 (GRCm39) Y226* probably null Het
Or2a25 T C 6: 42,889,078 (GRCm39) V207A possibly damaging Het
Or4z4 G T 19: 12,076,245 (GRCm39) P253T probably damaging Het
Or5h26 T A 16: 58,988,264 (GRCm39) M81L probably benign Het
P2rx7 T A 5: 122,808,528 (GRCm39) N303K possibly damaging Het
Pank4 T C 4: 155,054,504 (GRCm39) L159P probably damaging Het
Pcdhb22 A T 18: 37,651,553 (GRCm39) H7L probably benign Het
Pdzd8 A T 19: 59,289,771 (GRCm39) I543N probably benign Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prrc2b C A 2: 32,084,473 (GRCm39) R313S probably damaging Het
Rbm12b1 T C 4: 12,145,827 (GRCm39) C600R probably benign Het
Rfx6 T A 10: 51,554,498 (GRCm39) M113K possibly damaging Het
Rlf A T 4: 121,007,020 (GRCm39) D653E probably benign Het
Rnf130 A G 11: 49,978,213 (GRCm39) D258G possibly damaging Het
Robo2 A G 16: 73,753,411 (GRCm39) V822A possibly damaging Het
Rps6kc1 G T 1: 190,532,533 (GRCm39) Q490K possibly damaging Het
Scn9a T C 2: 66,313,850 (GRCm39) Y1945C probably damaging Het
Setd2 T A 9: 110,378,925 (GRCm39) D913E probably benign Het
Sfr1 G T 19: 47,723,442 (GRCm39) E315D possibly damaging Het
Smarca5 G A 8: 81,435,849 (GRCm39) R763* probably null Het
Sugct A C 13: 17,847,151 (GRCm39) I44S probably damaging Het
Syce1l A G 8: 114,380,662 (GRCm39) probably null Het
Tbc1d8b A G X: 138,634,829 (GRCm39) I654V probably benign Het
Tcf23 T A 5: 31,130,852 (GRCm39) Y163* probably null Het
Terf2ip TG T 8: 112,738,238 (GRCm39) probably null Het
Tmem158 T C 9: 123,088,950 (GRCm39) S221G possibly damaging Het
Tnrc6a A G 7: 122,769,205 (GRCm39) T332A probably benign Het
Trappc4 T C 9: 44,318,508 (GRCm39) T31A probably benign Het
Trim27 T C 13: 21,372,235 (GRCm39) probably null Het
Ttyh2 T A 11: 114,599,301 (GRCm39) L330Q probably damaging Het
Tubgcp3 A T 8: 12,689,532 (GRCm39) L578* probably null Het
Txndc11 C A 16: 10,946,565 (GRCm39) E83* probably null Het
Utp20 T C 10: 88,585,159 (GRCm39) K2635R probably benign Het
V1ra8 C T 6: 90,180,304 (GRCm39) T169I probably damaging Het
Vcl G A 14: 21,069,441 (GRCm39) V706I probably benign Het
Vmn2r106 A T 17: 20,499,373 (GRCm39) D179E probably benign Het
Vmn2r80 T C 10: 79,030,223 (GRCm39) M683T probably benign Het
Xirp2 A G 2: 67,340,215 (GRCm39) I819V probably benign Het
Zfp735 T C 11: 73,602,589 (GRCm39) F511S probably benign Het
Zfp831 T C 2: 174,487,683 (GRCm39) V786A probably benign Het
Zfp992 T A 4: 146,550,949 (GRCm39) H223Q probably benign Het
Zfyve19 A C 2: 119,041,300 (GRCm39) Q72P probably damaging Het
Other mutations in Rem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1121:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1122:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1126:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1233:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1235:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1378:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1713:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1911:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R1912:Rem1 UTSW 2 152,476,455 (GRCm39) missense probably damaging 0.96
R5442:Rem1 UTSW 2 152,469,977 (GRCm39) critical splice acceptor site probably null
R5853:Rem1 UTSW 2 152,470,200 (GRCm39) missense possibly damaging 0.92
R6062:Rem1 UTSW 2 152,470,017 (GRCm39) start codon destroyed probably null 1.00
R6072:Rem1 UTSW 2 152,476,437 (GRCm39) missense probably benign
R7215:Rem1 UTSW 2 152,470,069 (GRCm39) missense probably damaging 1.00
R7635:Rem1 UTSW 2 152,476,585 (GRCm39) missense probably damaging 1.00
R9276:Rem1 UTSW 2 152,469,969 (GRCm39) splice site probably benign
X0057:Rem1 UTSW 2 152,471,111 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TGCTTCCTGAGAGTTTGAACACA -3'
(R):5'- CTTTTCTCCTCAGTGGCACCATA -3'

Sequencing Primer
(F):5'- CATCTCTTCCCACCTTTATC -3'
(R):5'- ATAGTGTCCCATCACCCCAG -3'
Posted On 2014-05-14