Incidental Mutation 'R2018:Rab18'
ID 223566
Institutional Source Beutler Lab
Gene Symbol Rab18
Ensembl Gene ENSMUSG00000073639
Gene Name RAB18, member RAS oncogene family
Synonyms
MMRRC Submission 040027-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.782) question?
Stock # R2018 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 6765167-6791606 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to T at 6770113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097680]
AlphaFold P35293
Predicted Effect probably null
Transcript: ENSMUST00000097680
SMART Domains Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639

DomainStartEndE-ValueType
RAB 9 172 1.83e-104 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein is expressed predominantly in lipid droplets, organelles that store neutral lipids, and is proposed to play a role in lipolysis and lipogenesis. In humans mutations in this gene are associated with Warburg micro syndrome type 3. A pseudogene of this gene is located on chromosome X. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice show partial perinatal lethality and abnormal eye development, and develop nuclear cataracts, atonic pupils, progressive limb weakness, disruption of neuronal cytoskeleton, and accumulation of neurofilament and microtubule proteins in synaptic terminals. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,293,899 (GRCm39) F252L possibly damaging Het
4930447A16Rik T G 15: 37,440,742 (GRCm39) probably benign Het
Abca14 A T 7: 119,815,408 (GRCm39) M219L probably benign Het
Abi3bp A G 16: 56,498,159 (GRCm39) T918A probably damaging Het
Acss3 C T 10: 106,772,068 (GRCm39) S669N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamtsl4 A G 3: 95,588,412 (GRCm39) Y559H probably damaging Het
Adgrg5 T A 8: 95,661,108 (GRCm39) M106K probably damaging Het
Akt1 T C 12: 112,626,059 (GRCm39) N71S probably damaging Het
Amer2 A C 14: 60,615,894 (GRCm39) K30Q probably damaging Het
Anapc5 T C 5: 122,938,587 (GRCm39) K383E probably damaging Het
Ano1 A G 7: 144,207,987 (GRCm39) L258P probably damaging Het
Arb2a A G 13: 78,147,756 (GRCm39) T321A possibly damaging Het
Arhgef10l A G 4: 140,271,695 (GRCm39) S560P probably damaging Het
Arhgef40 T A 14: 52,241,162 (GRCm39) L1395Q probably damaging Het
Arid1a A T 4: 133,409,145 (GRCm39) D1787E unknown Het
Ces2h T C 8: 105,745,030 (GRCm39) L388P probably damaging Het
Cfap54 T A 10: 92,852,466 (GRCm39) N880I probably benign Het
Cryz T C 3: 154,327,320 (GRCm39) V116A probably damaging Het
Csrp1 G A 1: 135,678,366 (GRCm39) A159T probably damaging Het
Cttnbp2 A G 6: 18,434,517 (GRCm39) F447S probably damaging Het
Cyp4a12a A T 4: 115,184,702 (GRCm39) I328F probably damaging Het
Cyth4 T G 15: 78,492,371 (GRCm39) H133Q probably damaging Het
Ddah2 A G 17: 35,279,402 (GRCm39) I88V possibly damaging Het
Dmbt1 T G 7: 130,712,718 (GRCm39) I1563S possibly damaging Het
Dnajc22 T C 15: 98,999,114 (GRCm39) S100P probably benign Het
Fancl T A 11: 26,372,459 (GRCm39) D123E probably damaging Het
Fbxo30 A G 10: 11,166,772 (GRCm39) Q498R probably damaging Het
Fgd4 T C 16: 16,253,824 (GRCm39) H581R probably benign Het
Gm2663 T C 6: 40,974,900 (GRCm39) Q57R probably benign Het
Gm7247 A T 14: 51,602,804 (GRCm39) M47L possibly damaging Het
Gsdmc2 T A 15: 63,699,975 (GRCm39) probably null Het
Hc A C 2: 34,903,540 (GRCm39) F1038C probably damaging Het
Heatr1 C A 13: 12,429,359 (GRCm39) Q890K possibly damaging Het
Hipk4 C A 7: 27,228,429 (GRCm39) T293K probably damaging Het
Hp1bp3 C A 4: 137,948,943 (GRCm39) A2E probably damaging Het
Il6 T C 5: 30,219,945 (GRCm39) probably null Het
Itga6 A G 2: 71,648,828 (GRCm39) D104G probably benign Het
Krt24 A G 11: 99,173,277 (GRCm39) S293P probably damaging Het
Krt4 C T 15: 101,829,086 (GRCm39) R309Q probably damaging Het
Krt40 A T 11: 99,430,913 (GRCm39) W199R probably damaging Het
Lamc1 T C 1: 153,118,378 (GRCm39) E931G probably benign Het
Lamp3 A T 16: 19,519,961 (GRCm39) M74K probably benign Het
Lgalsl2 A G 7: 5,362,573 (GRCm39) D68G probably benign Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Marchf7 T A 2: 60,059,384 (GRCm39) Y37* probably null Het
Mrpl36 A G 13: 73,479,687 (GRCm39) K66E probably damaging Het
Mrps35 G T 6: 146,962,982 (GRCm39) E229* probably null Het
Mtmr6 T C 14: 60,536,441 (GRCm39) M557T probably benign Het
Myocd A T 11: 65,077,854 (GRCm39) I647N probably damaging Het
Myom2 A C 8: 15,181,151 (GRCm39) L1350F probably damaging Het
Nhsl3 A G 4: 129,116,148 (GRCm39) S884P probably damaging Het
Nosip T A 7: 44,726,033 (GRCm39) S197T probably benign Het
Npat A G 9: 53,473,791 (GRCm39) K528E probably benign Het
Nyap2 A G 1: 81,169,587 (GRCm39) T115A probably benign Het
Obi1 T A 14: 104,759,978 (GRCm39) K24M probably damaging Het
Or10al6 A G 17: 38,083,467 (GRCm39) R317G probably benign Het
Or4a72 A G 2: 89,405,737 (GRCm39) V111A probably damaging Het
Or4c109 G T 2: 88,818,489 (GRCm39) P19Q probably benign Het
Or51b6 T A 7: 103,556,249 (GRCm39) V201D possibly damaging Het
Or5m3 A T 2: 85,838,567 (GRCm39) Y149F probably damaging Het
Or8g55 A G 9: 39,785,354 (GRCm39) Q261R probably benign Het
Orc1 T C 4: 108,447,897 (GRCm39) V48A possibly damaging Het
Pde6d T C 1: 86,474,438 (GRCm39) E69G probably damaging Het
Pdgfrb A T 18: 61,216,406 (GRCm39) D1088V possibly damaging Het
Peg12 A G 7: 62,113,386 (GRCm39) V237A probably benign Het
Phf8-ps T C 17: 33,285,941 (GRCm39) N287S probably benign Het
Piezo1 A G 8: 123,209,451 (GRCm39) F2371L probably benign Het
Podn T A 4: 107,880,570 (GRCm39) S27C probably damaging Het
Pom121l2 A G 13: 22,166,904 (GRCm39) M392V possibly damaging Het
Ppm1b A G 17: 85,301,630 (GRCm39) K170R probably damaging Het
Raet1d G A 10: 22,246,911 (GRCm39) A80T probably damaging Het
Rfx7 T A 9: 72,524,967 (GRCm39) V719E probably benign Het
Ror1 C T 4: 100,265,038 (GRCm39) Q171* probably null Het
Rufy4 G A 1: 74,180,106 (GRCm39) V454M possibly damaging Het
Ryr2 C T 13: 11,866,074 (GRCm39) G292D possibly damaging Het
Ryr3 G T 2: 112,611,410 (GRCm39) N2257K probably benign Het
Saal1 A G 7: 46,348,913 (GRCm39) F306S possibly damaging Het
Sap18 A G 14: 58,036,021 (GRCm39) N69S probably damaging Het
Sar1b A T 11: 51,670,514 (GRCm39) probably null Het
Serpina3n G T 12: 104,375,473 (GRCm39) V182L probably damaging Het
Setd3 A T 12: 108,084,513 (GRCm39) H279Q probably damaging Het
Slc18a2 C A 19: 59,264,937 (GRCm39) A307E possibly damaging Het
Slc4a10 A T 2: 62,064,725 (GRCm39) D193V probably damaging Het
Spire2 T C 8: 124,059,657 (GRCm39) C52R probably damaging Het
Syne2 A T 12: 76,121,353 (GRCm39) I5940F probably damaging Het
Sytl1 C T 4: 132,983,471 (GRCm39) S355N probably damaging Het
Tarbp1 C T 8: 127,154,853 (GRCm39) V1424I probably damaging Het
Tatdn3 A T 1: 190,781,477 (GRCm39) probably null Het
Tbpl1 T A 10: 22,583,576 (GRCm39) E131D probably damaging Het
Telo2 A T 17: 25,324,382 (GRCm39) M501K probably damaging Het
Terb1 A G 8: 105,179,331 (GRCm39) V619A probably benign Het
Tmem132e A G 11: 82,335,989 (GRCm39) T1024A probably benign Het
Tmem30a T C 9: 79,681,500 (GRCm39) D223G probably damaging Het
Tmprss11d A G 5: 86,487,413 (GRCm39) V19A probably damaging Het
Tnks A T 8: 35,318,260 (GRCm39) S872T probably damaging Het
Tnxb A G 17: 34,890,724 (GRCm39) S356G probably benign Het
Tob2 T C 15: 81,735,400 (GRCm39) K190E probably damaging Het
Togaram1 T C 12: 65,049,433 (GRCm39) V1240A possibly damaging Het
Trim13 T A 14: 61,842,335 (GRCm39) C117* probably null Het
Trpv4 G A 5: 114,772,666 (GRCm39) R308C probably damaging Het
Ttn C G 2: 76,585,676 (GRCm39) D21987H probably damaging Het
Ttn C A 2: 76,656,418 (GRCm39) probably null Het
Upp1 A T 11: 9,083,240 (GRCm39) M111L possibly damaging Het
Vmn1r206 A T 13: 22,804,358 (GRCm39) V283E probably damaging Het
Vmn2r79 G T 7: 86,651,634 (GRCm39) L344F probably benign Het
Vmn2r93 T G 17: 18,546,324 (GRCm39) I732S probably damaging Het
Vmn2r96 G T 17: 18,804,263 (GRCm39) M504I probably benign Het
Vps39 T C 2: 120,173,708 (GRCm39) Y147C probably damaging Het
Zbtb20 T A 16: 43,398,015 (GRCm39) C35S possibly damaging Het
Zfp871 A T 17: 32,993,751 (GRCm39) C475S probably damaging Het
Other mutations in Rab18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Rab18 APN 18 6,788,474 (GRCm39) splice site probably benign
R2248:Rab18 UTSW 18 6,788,629 (GRCm39) missense probably damaging 1.00
R2314:Rab18 UTSW 18 6,788,516 (GRCm39) missense probably damaging 1.00
R3976:Rab18 UTSW 18 6,778,529 (GRCm39) missense probably benign 0.00
R6240:Rab18 UTSW 18 6,784,635 (GRCm39) missense probably benign 0.23
R7081:Rab18 UTSW 18 6,778,529 (GRCm39) missense probably benign 0.00
R7652:Rab18 UTSW 18 6,783,123 (GRCm39) missense possibly damaging 0.95
R8696:Rab18 UTSW 18 6,788,635 (GRCm39) missense probably damaging 1.00
R9628:Rab18 UTSW 18 6,788,647 (GRCm39) missense probably benign 0.01
R9687:Rab18 UTSW 18 6,784,622 (GRCm39) missense probably benign 0.10
X0026:Rab18 UTSW 18 6,788,615 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCAGACCTACATCATCAGCTC -3'
(R):5'- GGCTGGCATGCAATAAATCTTCC -3'

Sequencing Primer
(F):5'- GACCTACATCATCAGCTCTACTC -3'
(R):5'- CCATAGTACTGGAATGAAATGTGTG -3'
Posted On 2014-08-25