Incidental Mutation 'R3976:Rab18'
ID 312666
Institutional Source Beutler Lab
Gene Symbol Rab18
Ensembl Gene ENSMUSG00000073639
Gene Name RAB18, member RAS oncogene family
Synonyms
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.782) question?
Stock # R3976 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 6765167-6791606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6778529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 53 (D53E)
Ref Sequence ENSEMBL: ENSMUSP00000095285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097680]
AlphaFold P35293
Predicted Effect probably benign
Transcript: ENSMUST00000097680
AA Change: D53E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095285
Gene: ENSMUSG00000073639
AA Change: D53E

DomainStartEndE-ValueType
RAB 9 172 1.83e-104 SMART
Meta Mutation Damage Score 0.3095 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Bola3 T C 6: 83,328,249 (GRCm39) L45P probably benign Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxo16 T A 14: 65,524,606 (GRCm39) L42Q probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or2k2 A G 4: 58,785,164 (GRCm39) L186P probably damaging Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rhbg C A 3: 88,151,843 (GRCm39) G383V probably damaging Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign 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
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'- GATACCTTCAGCCTTCAGGTCTAG -3'
(R):5'- CGTGGAGTTTAAATGAAGAGGCTC -3'

Sequencing Primer
(F):5'- CAGCCTTCAGGTCTAGAATTTTCAG -3'
(R):5'- GGTGTCTTTTCACAGCAATAGAGCC -3'
Posted On 2015-04-30