Incidental Mutation 'R1912:Rem1'
ID 210351
Institutional Source Beutler Lab
Gene Symbol Rem1
Ensembl Gene ENSMUSG00000000359
Gene Name rad and gem related GTP binding protein 1
Synonyms E030011C07Rik
MMRRC Submission 039930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1912 (G1)
Quality Score 154
Status Not validated
Chromosome 2
Chromosomal Location 152626951-152635198 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152634535 bp (GRCm38)
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

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: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
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: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,554,655 (GRCm38) M132V probably benign Het
4921524L21Rik T A 18: 6,620,205 (GRCm38) I45N possibly damaging Het
Abcb6 A G 1: 75,179,955 (GRCm38) V55A probably benign Het
Adam28 A T 14: 68,644,331 (GRCm38) D105E probably benign Het
Ahnak T C 19: 9,017,881 (GRCm38) S5510P probably damaging Het
Aldh3b1 T G 19: 3,921,187 (GRCm38) D159A probably damaging Het
Alx1 A G 10: 103,025,361 (GRCm38) L102P probably damaging Het
Ankrd50 C T 3: 38,456,776 (GRCm38) V481I probably benign Het
Aox4 G T 1: 58,264,402 (GRCm38) G1200W probably damaging Het
Arhgap45 A C 10: 80,020,690 (GRCm38) D24A probably benign Het
Arhgef16 A T 4: 154,280,323 (GRCm38) probably null Het
Asic4 A T 1: 75,469,232 (GRCm38) Y235F possibly damaging Het
Asph T C 4: 9,453,335 (GRCm38) E646G probably damaging Het
Atg4d A G 9: 21,272,639 (GRCm38) D350G probably damaging Het
Auts2 T C 5: 131,443,574 (GRCm38) T347A probably damaging Het
Bsnd A T 4: 106,488,030 (GRCm38) L73* probably null Het
Cachd1 A T 4: 100,953,169 (GRCm38) S323C probably damaging Het
Cacna1e A G 1: 154,436,449 (GRCm38) I1290T probably damaging Het
Cdh8 T A 8: 99,098,870 (GRCm38) N498Y probably damaging Het
Cdkn3 A G 14: 46,769,834 (GRCm38) probably null Het
Celf2 A T 2: 6,615,753 (GRCm38) M40K probably damaging Het
Cfap57 A C 4: 118,615,010 (GRCm38) S57R probably damaging Het
Cfh A G 1: 140,136,141 (GRCm38) probably null Het
Chdh A G 14: 30,032,788 (GRCm38) S252G probably benign Het
Col8a1 T A 16: 57,627,924 (GRCm38) I408F unknown Het
Corin C T 5: 72,358,403 (GRCm38) C303Y probably damaging Het
Crlf2 C T 5: 109,557,141 (GRCm38) C66Y possibly damaging Het
Csmd1 C T 8: 16,233,998 (GRCm38) probably null Het
Cyp4f16 T C 17: 32,545,044 (GRCm38) V270A probably damaging Het
Defa29 T A 8: 21,326,012 (GRCm38) H113L possibly damaging Het
Dhx35 A T 2: 158,842,307 (GRCm38) N501Y probably damaging Het
Dipk1b A G 2: 26,632,704 (GRCm38) E55G probably damaging Het
Dst A G 1: 34,291,850 (GRCm38) R4690G probably damaging Het
Elac2 T A 11: 64,994,263 (GRCm38) D439E probably benign Het
Ercc6 A G 14: 32,576,803 (GRCm38) R1383G probably damaging Het
Fat3 T A 9: 15,969,988 (GRCm38) Y3196F probably damaging Het
Fbxw13 A T 9: 109,181,543 (GRCm38) D342E probably benign Het
Fmod A G 1: 134,040,720 (GRCm38) N166S possibly damaging Het
Folh1 A G 7: 86,762,967 (GRCm38) S199P possibly damaging Het
Fv1 A G 4: 147,869,778 (GRCm38) N267S possibly damaging Het
Fyn T C 10: 39,526,832 (GRCm38) V200A possibly damaging Het
Gfus A T 15: 75,925,649 (GRCm38) D278E possibly damaging Het
Ggnbp2 T C 11: 84,862,296 (GRCm38) N39S probably benign Het
Gm10509 A T 17: 21,690,924 (GRCm38) I53F possibly damaging Het
Gpr139 A T 7: 119,144,879 (GRCm38) I161N possibly damaging Het
Grhl2 C T 15: 37,358,407 (GRCm38) T148I probably damaging Het
Hmcn1 C A 1: 150,604,882 (GRCm38) M4514I probably benign Het
Igsf10 T G 3: 59,329,572 (GRCm38) T1063P probably benign Het
Itgav A G 2: 83,795,486 (GRCm38) Y792C possibly damaging Het
Itgb2l T C 16: 96,426,935 (GRCm38) Q456R probably benign Het
Jph4 G A 14: 55,108,361 (GRCm38) A613V probably benign Het
Kcna2 A G 3: 107,105,401 (GRCm38) T433A probably benign Het
Kmt2e A G 5: 23,492,395 (GRCm38) K97R probably benign Het
Krba1 C A 6: 48,415,765 (GRCm38) A871E probably benign Het
Loxhd1 T C 18: 77,340,137 (GRCm38) F468L probably benign Het
Lpin1 A G 12: 16,546,727 (GRCm38) V713A probably damaging Het
Ltbp2 T A 12: 84,785,863 (GRCm38) I67F probably damaging Het
Mdc1 G A 17: 35,844,538 (GRCm38) R35H probably benign Het
Mdc1 A G 17: 35,850,811 (GRCm38) D872G probably benign Het
Mgam C T 6: 40,764,185 (GRCm38) Q959* probably null Het
Mttp T A 3: 138,116,027 (GRCm38) T260S probably benign Het
Naalad2 A T 9: 18,376,535 (GRCm38) D266E probably benign Het
Nans T A 4: 46,500,162 (GRCm38) L182H probably damaging Het
Nbas T A 12: 13,566,144 (GRCm38) C2228S probably benign Het
Nfix A T 8: 84,721,677 (GRCm38) V407E probably damaging Het
Nktr T A 9: 121,750,240 (GRCm38) probably benign Het
Nlrp10 G A 7: 108,925,395 (GRCm38) R293* probably null Het
Nrxn3 T C 12: 88,795,342 (GRCm38) F53S probably damaging Het
Or11h4 G A 14: 50,736,778 (GRCm38) P128L probably damaging Het
Or12e7 T C 2: 87,457,383 (GRCm38) S73P probably damaging Het
Or1e21 A T 11: 73,453,994 (GRCm38) F73I probably damaging Het
Or2f2 T C 6: 42,790,477 (GRCm38) I146T probably benign Het
Or3a1c T C 11: 74,155,885 (GRCm38) C244R probably damaging Het
Or5ak24 T A 2: 85,430,260 (GRCm38) N190Y probably damaging Het
Or5p68 A G 7: 108,346,807 (GRCm38) L58P probably damaging Het
Or6d12 A G 6: 116,515,989 (GRCm38) T71A probably benign Het
Oxld1 A G 11: 120,456,906 (GRCm38) V155A probably damaging Het
Pamr1 T A 2: 102,642,300 (GRCm38) F648Y probably damaging Het
Parg T C 14: 32,210,540 (GRCm38) W446R probably damaging Het
Pate13 A T 9: 35,908,619 (GRCm38) T23S probably benign Het
Phf3 A T 1: 30,804,345 (GRCm38) H1844Q probably damaging Het
Phf7 T C 14: 31,240,324 (GRCm38) I175V possibly damaging Het
Pibf1 G A 14: 99,187,809 (GRCm38) probably null Het
Plcxd1 A G 5: 110,103,442 (GRCm38) I295V probably benign Het
Pole2 A C 12: 69,209,990 (GRCm38) Y254D probably damaging Het
Ppm1e T A 11: 87,244,370 (GRCm38) I225F probably benign Het
Pttg1ip2 C A 5: 5,452,019 (GRCm38) W144C probably benign Het
Resf1 T A 6: 149,328,844 (GRCm38) D1129E possibly damaging Het
Rnase2b T G 14: 51,162,900 (GRCm38) V146G probably damaging Het
Rnf169 G A 7: 99,926,254 (GRCm38) T378I probably damaging Het
Rpf2 A G 10: 40,236,201 (GRCm38) F80L probably benign Het
Sec11c T A 18: 65,814,874 (GRCm38) D128E probably damaging Het
Septin12 A G 16: 4,988,553 (GRCm38) V248A probably damaging Het
Serinc1 T C 10: 57,525,451 (GRCm38) N82S probably benign Het
Serpina9 A C 12: 104,001,249 (GRCm38) W296G probably damaging Het
Sgo2b A C 8: 63,931,469 (GRCm38) D164E probably damaging Het
Slc15a3 A G 19: 10,848,613 (GRCm38) N223D probably damaging Het
Slc44a3 A G 3: 121,532,166 (GRCm38) Y12H probably benign Het
Slco3a1 A G 7: 74,504,611 (GRCm38) F42S probably damaging Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Snx7 A T 3: 117,829,668 (GRCm38) probably null Het
Sorl1 A T 9: 42,081,950 (GRCm38) D259E probably damaging Het
Stpg2 G A 3: 139,522,981 (GRCm38) probably null Het
Strn T A 17: 78,684,395 (GRCm38) Y165F probably damaging Het
Sval2 T A 6: 41,864,320 (GRCm38) *106R probably null Het
Tcaf3 A G 6: 42,596,688 (GRCm38) S197P possibly damaging Het
Tespa1 C A 10: 130,354,723 (GRCm38) T73N probably benign Het
Tex10 C T 4: 48,456,800 (GRCm38) R637Q probably benign Het
Thoc5 C A 11: 4,915,561 (GRCm38) T380K probably benign Het
Tmprss7 T A 16: 45,656,548 (GRCm38) R784* probably null Het
Trank1 A T 9: 111,390,709 (GRCm38) L2171F probably benign Het
Trpm2 T G 10: 77,945,876 (GRCm38) K303T probably benign Het
Unc80 G A 1: 66,510,625 (GRCm38) V681M probably damaging Het
Usp40 A G 1: 87,946,646 (GRCm38) F1131L probably benign Het
Vmn1r215 A T 13: 23,076,503 (GRCm38) I238F possibly damaging Het
Vwa3a A T 7: 120,795,627 (GRCm38) Y890F probably damaging Het
Zdhhc18 A G 4: 133,613,860 (GRCm38) L234P probably damaging Het
Zfp109 A G 7: 24,228,251 (GRCm38) S578P probably damaging Het
Zfp704 T C 3: 9,609,358 (GRCm38) D121G unknown Het
Zgrf1 G T 3: 127,563,137 (GRCm38) V671L probably benign Het
Zkscan8 A T 13: 21,520,757 (GRCm38) C265* probably null Het
Zscan26 T C 13: 21,445,140 (GRCm38) I398V possibly damaging Het
Other mutations in Rem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1121:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1122:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1126:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1233:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1235:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1378:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1709:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1713:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R1911:Rem1 UTSW 2 152,634,535 (GRCm38) missense probably damaging 0.96
R5442:Rem1 UTSW 2 152,628,057 (GRCm38) critical splice acceptor site probably null
R5853:Rem1 UTSW 2 152,628,280 (GRCm38) missense possibly damaging 0.92
R6062:Rem1 UTSW 2 152,628,097 (GRCm38) start codon destroyed probably null 1.00
R6072:Rem1 UTSW 2 152,634,517 (GRCm38) missense probably benign
R7215:Rem1 UTSW 2 152,628,149 (GRCm38) missense probably damaging 1.00
R7635:Rem1 UTSW 2 152,634,665 (GRCm38) missense probably damaging 1.00
R9276:Rem1 UTSW 2 152,628,049 (GRCm38) splice site probably benign
X0057:Rem1 UTSW 2 152,629,191 (GRCm38) missense probably benign 0.32
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-30