Incidental Mutation 'R2314:Rab18'
ID 245444
Institutional Source Beutler Lab
Gene Symbol Rab18
Ensembl Gene ENSMUSG00000073639
Gene Name RAB18, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.782) question?
Stock # R2314 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 6765167-6791606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6788516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 161 (A161D)
Ref Sequence ENSEMBL: ENSMUSP00000095285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097680]
AlphaFold P35293
Predicted Effect probably damaging
Transcript: ENSMUST00000097680
AA Change: A161D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639
AA Change: A161D

DomainStartEndE-ValueType
RAB 9 172 1.83e-104 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,322 (GRCm39) S39P probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anxa6 T A 11: 54,902,561 (GRCm39) I58F probably damaging Het
Ccdc30 T A 4: 119,181,763 (GRCm39) K582* probably null Het
Cebpz A G 17: 79,227,976 (GRCm39) probably null Het
Clstn3 T A 6: 124,427,676 (GRCm39) D473V probably benign Het
Cry1 A T 10: 84,969,175 (GRCm39) C550S probably benign Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dolk G T 2: 30,175,497 (GRCm39) L183M probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Drd4 T C 7: 140,873,854 (GRCm39) Y140H probably damaging Het
Duox1 C A 2: 122,164,211 (GRCm39) C890* probably null Het
Epha2 T A 4: 141,046,325 (GRCm39) V508E probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Fgfr1 C T 8: 26,060,909 (GRCm39) S527F probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Gm21834 A T 17: 58,049,210 (GRCm39) V2E possibly damaging Het
Gm7853 A T 14: 35,811,621 (GRCm39) noncoding transcript Het
Igf2r T A 17: 12,934,830 (GRCm39) H713L probably benign Het
Iqgap3 T C 3: 88,023,338 (GRCm39) V543A probably benign Het
Kcnq5 T A 1: 21,549,595 (GRCm39) probably null Het
Lsm1 C T 8: 26,275,712 (GRCm39) P5S possibly damaging Het
Marchf1 T C 8: 66,574,442 (GRCm39) M1T probably null Het
Myocd T C 11: 65,091,633 (GRCm39) H103R probably damaging Het
Myom2 C T 8: 15,113,927 (GRCm39) T25I probably damaging Het
Nck1 T C 9: 100,380,003 (GRCm39) K83E probably damaging Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Onecut2 G T 18: 64,474,268 (GRCm39) R254L probably damaging Het
Or51k1 T A 7: 103,661,436 (GRCm39) M158L probably benign Het
Plxna1 A C 6: 89,301,298 (GRCm39) L1534R probably damaging Het
Polb C A 8: 23,130,018 (GRCm39) A185S possibly damaging Het
Pou3f3 T C 1: 42,737,651 (GRCm39) V449A probably damaging Het
Pskh1 C T 8: 106,640,145 (GRCm39) T275I probably damaging Het
Rrp8 T C 7: 105,384,011 (GRCm39) R164G probably benign Het
Sacs T A 14: 61,445,208 (GRCm39) I2418K probably benign Het
Scrn1 T C 6: 54,502,631 (GRCm39) E136G probably benign Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slitrk6 C T 14: 110,989,387 (GRCm39) A107T probably damaging Het
Spata31e2 T C 1: 26,723,783 (GRCm39) S466G probably benign Het
Tktl2 T A 8: 66,965,795 (GRCm39) F451Y probably damaging Het
Tnks1bp1 G A 2: 84,889,259 (GRCm39) V529M probably benign Het
Trps1 T C 15: 50,524,742 (GRCm39) K874E probably damaging Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Ttn A G 2: 76,596,368 (GRCm39) Y20182H probably damaging Het
Ufc1 A T 1: 171,116,821 (GRCm39) C116S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp809 A G 9: 22,149,976 (GRCm39) K158E possibly damaging Het
Zfp81 A G 17: 33,553,597 (GRCm39) Y406H probably damaging Het
Other mutations in Rab18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Rab18 APN 18 6,788,474 (GRCm39) splice site probably benign
R2018:Rab18 UTSW 18 6,770,113 (GRCm39) splice site probably null
R2248:Rab18 UTSW 18 6,788,629 (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'- GGGCAGAGTTGAAGTAGTTCTC -3'
(R):5'- CTGCAAGGTCCCTAATAGCAG -3'

Sequencing Primer
(F):5'- GGGAGTGGAGGAAATTTACTAATTTG -3'
(R):5'- CTGCAAGGTCCCTAATAGCAGTTAAG -3'
Posted On 2014-10-30