Incidental Mutation 'R6240:Rab18'
ID 505210
Institutional Source Beutler Lab
Gene Symbol Rab18
Ensembl Gene ENSMUSG00000073639
Gene Name RAB18, member RAS oncogene family
Synonyms
MMRRC Submission 044364-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.782) question?
Stock # R6240 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 6765167-6791606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6784635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 109 (Y109H)
Ref Sequence ENSEMBL: ENSMUSP00000095285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097680]
AlphaFold P35293
Predicted Effect probably benign
Transcript: ENSMUST00000097680
AA Change: Y109H

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639
AA Change: Y109H

DomainStartEndE-ValueType
RAB 9 172 1.83e-104 SMART
Meta Mutation Damage Score 0.1912 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 64,223,701 (GRCm39) R25L probably damaging Het
Adamts1 G A 16: 85,599,045 (GRCm39) S185L probably benign Het
Adamts12 A T 15: 11,286,044 (GRCm39) D751V probably benign Het
Adgrg3 A G 8: 95,766,544 (GRCm39) D405G probably benign Het
Ahi1 A G 10: 20,852,980 (GRCm39) D516G probably damaging Het
Ahnak A T 19: 8,990,947 (GRCm39) D4077V probably damaging Het
Arhgef18 G A 8: 3,489,658 (GRCm39) R330Q probably damaging Het
Arid1a A G 4: 133,407,997 (GRCm39) V2170A unknown Het
Asxl3 C T 18: 22,598,565 (GRCm39) L227F probably damaging Het
B3glct A G 5: 149,650,253 (GRCm39) I119V probably benign Het
Brd10 A T 19: 29,694,640 (GRCm39) S1618T probably benign Het
Cad T A 5: 31,230,322 (GRCm39) M1512K probably benign Het
Cdc25a A G 9: 109,713,226 (GRCm39) T172A probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Clmp A G 9: 40,693,707 (GRCm39) N308S probably damaging Het
Dlg5 A T 14: 24,199,596 (GRCm39) probably null Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
E4f1 A G 17: 24,663,556 (GRCm39) S524P possibly damaging Het
Epha5 G C 5: 84,265,438 (GRCm39) A452G probably benign Het
Fzd3 T C 14: 65,447,304 (GRCm39) T542A probably damaging Het
Glyctk A T 9: 106,033,461 (GRCm39) probably null Het
Gm10382 G A 5: 125,466,660 (GRCm39) probably benign Het
Hnmt T A 2: 23,904,281 (GRCm39) M127L probably benign Het
Hoxc10 T A 15: 102,879,265 (GRCm39) W262R probably damaging Het
Icam5 T A 9: 20,944,454 (GRCm39) W52R possibly damaging Het
Jazf1 A T 6: 52,754,537 (GRCm39) C180S probably damaging Het
Kcnk2 A G 1: 188,975,179 (GRCm39) W286R probably damaging Het
Kcnmb2 C T 3: 32,236,045 (GRCm39) S98F probably damaging Het
Mob3a C G 10: 80,525,698 (GRCm39) E204D possibly damaging Het
Morc3 C G 16: 93,659,572 (GRCm39) H459D probably damaging Het
Mroh2b A T 15: 4,964,126 (GRCm39) N876I probably benign Het
Myo16 A T 8: 10,420,930 (GRCm39) T257S probably damaging Het
Nat1 A T 8: 67,944,354 (GRCm39) R243S possibly damaging Het
Nudt9 T C 5: 104,194,955 (GRCm39) V17A probably benign Het
Or13p8 A G 4: 118,583,668 (GRCm39) S75G probably benign Het
Or4c111 A G 2: 88,843,970 (GRCm39) I146T probably benign Het
Or4c11c A G 2: 88,661,707 (GRCm39) D82G probably benign Het
Or4m1 A G 14: 50,558,043 (GRCm39) V83A probably benign Het
Or6c70 C A 10: 129,710,546 (GRCm39) V27L probably benign Het
Pcdh7 T C 5: 57,878,704 (GRCm39) L753P probably damaging Het
Pcf11 T A 7: 92,295,710 (GRCm39) E1446D probably damaging Het
Pepd A G 7: 34,721,176 (GRCm39) I267V probably benign Het
Plk2 T A 13: 110,536,008 (GRCm39) Y571N probably damaging Het
Plk2 T A 13: 110,536,568 (GRCm39) V620E probably damaging Het
Prag1 T C 8: 36,570,506 (GRCm39) L363P probably benign Het
Psmd3 A G 11: 98,584,479 (GRCm39) T387A probably damaging Het
Ptgs1 G A 2: 36,127,297 (GRCm39) C61Y probably damaging Het
Robo2 G A 16: 73,779,027 (GRCm39) P358L probably damaging Het
Smarcc2 C T 10: 128,323,893 (GRCm39) probably benign Het
Spata31e4 G A 13: 50,855,453 (GRCm39) D364N probably damaging Het
Srgap1 A G 10: 121,883,061 (GRCm39) I13T probably benign Het
Tcf12 T A 9: 71,851,298 (GRCm39) K110* probably null Het
Tdrd1 T C 19: 56,829,767 (GRCm39) S214P probably benign Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Tmem255b A G 8: 13,504,216 (GRCm39) Y136C probably damaging Het
Tmem63c A T 12: 87,123,179 (GRCm39) I448F possibly damaging Het
Tnpo1 T C 13: 99,000,337 (GRCm39) I335M probably damaging Het
Vmn1r1 T C 1: 181,985,186 (GRCm39) T160A probably damaging Het
Vmn1r203 A G 13: 22,708,899 (GRCm39) N227D possibly damaging Het
Vmn2r6 T A 3: 64,464,226 (GRCm39) S203C probably damaging Het
Zfp628 A G 7: 4,922,848 (GRCm39) T357A possibly damaging Het
Zfp872 A G 9: 22,111,180 (GRCm39) K220E 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
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
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'- TTGTAACTAACTGCCAGCTGCC -3'
(R):5'- ACTAAAATGGGTTGGGCTATAGC -3'

Sequencing Primer
(F):5'- CAGCTGCCAACAGGATTTAATTTCC -3'
(R):5'- GAACTACCCAAATGTCAAGT -3'
Posted On 2018-02-28