Incidental Mutation 'IGL02197:Rab36'
ID 284095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab36
Ensembl Gene ENSMUSG00000020175
Gene Name RAB36, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02197
Quality Score
Status
Chromosome 10
Chromosomal Location 74872890-74890580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74887874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 248 (I248M)
Ref Sequence ENSEMBL: ENSMUSP00000119399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020391] [ENSMUST00000139384] [ENSMUST00000146440] [ENSMUST00000147802]
AlphaFold Q8CAM5
Predicted Effect probably damaging
Transcript: ENSMUST00000020391
AA Change: I248M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020391
Gene: ENSMUSG00000020175
AA Change: I248M

DomainStartEndE-ValueType
RAB 59 224 6.4e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136944
Predicted Effect probably benign
Transcript: ENSMUST00000139384
SMART Domains Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175

DomainStartEndE-ValueType
Pfam:Arf 42 134 6.3e-8 PFAM
Pfam:Ras 74 134 1.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142507
Predicted Effect probably damaging
Transcript: ENSMUST00000146440
AA Change: I248M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: I248M

DomainStartEndE-ValueType
RAB 59 224 6.4e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147802
AA Change: I248M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: I248M

DomainStartEndE-ValueType
RAB 59 224 6.4e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151432
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,885,117 (GRCm39) S526G probably benign Het
Atad2b A T 12: 5,068,056 (GRCm39) N1018I possibly damaging Het
Baz1b A G 5: 135,237,951 (GRCm39) E209G probably benign Het
Bltp1 A G 3: 36,960,884 (GRCm39) T445A probably damaging Het
Capn11 T A 17: 45,950,782 (GRCm39) T264S probably benign Het
Cdh1 A G 8: 107,380,418 (GRCm39) E187G probably benign Het
Cps1 A G 1: 67,196,923 (GRCm39) I325V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dmbt1 A G 7: 130,687,152 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,530,496 (GRCm39) D203G probably damaging Het
Eif2ak3 A G 6: 70,878,441 (GRCm39) Y1045C probably benign Het
Fam13a T A 6: 58,912,586 (GRCm39) D689V possibly damaging Het
Fnip1 T A 11: 54,384,200 (GRCm39) L342I probably damaging Het
Frk T A 10: 34,360,330 (GRCm39) N110K probably damaging Het
Gm5134 T C 10: 75,790,536 (GRCm39) probably null Het
Gm53 T C 11: 96,142,549 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,163 (GRCm39) noncoding transcript Het
Gm9936 A G 5: 114,995,152 (GRCm39) probably benign Het
Hk3 A G 13: 55,162,281 (GRCm39) F108L probably damaging Het
Homer2 A T 7: 81,260,147 (GRCm39) S296T probably benign Het
Itga2b T A 11: 102,357,145 (GRCm39) H245L probably benign Het
Ky T C 9: 102,414,985 (GRCm39) F299S possibly damaging Het
Lama5 A G 2: 179,849,012 (GRCm39) Y224H possibly damaging Het
Leng9 G T 7: 4,151,723 (GRCm39) L318I probably damaging Het
Lpin1 A G 12: 16,608,408 (GRCm39) probably null Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Map2k3 A G 11: 60,837,590 (GRCm39) Y230C probably damaging Het
Myef2 T C 2: 124,955,959 (GRCm39) probably null Het
Myh3 A T 11: 66,989,409 (GRCm39) I1510L probably benign Het
Mypn T C 10: 62,959,057 (GRCm39) D1088G possibly damaging Het
Nek9 C A 12: 85,354,704 (GRCm39) V745L probably null Het
Neu1 T A 17: 35,153,641 (GRCm39) V355D possibly damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or4c107 A G 2: 88,789,028 (GRCm39) T73A probably benign Het
Or6e1 T C 14: 54,519,409 (GRCm39) *314W probably null Het
Papola A T 12: 105,795,442 (GRCm39) N631I possibly damaging Het
Pcnx1 T C 12: 81,965,878 (GRCm39) S682P probably benign Het
Pcnx1 T C 12: 82,039,925 (GRCm39) S2071P possibly damaging Het
Pga5 A G 19: 10,649,277 (GRCm39) probably benign Het
Phlda1 T A 10: 111,343,014 (GRCm39) M250K probably damaging Het
Phox2b A G 5: 67,253,869 (GRCm39) probably benign Het
Pkdrej A G 15: 85,699,994 (GRCm39) Y1981H possibly damaging Het
Pold1 G A 7: 44,191,663 (GRCm39) P108S probably benign Het
Ptprg T G 14: 12,220,613 (GRCm38) F442V probably damaging Het
Scnn1b G A 7: 121,502,113 (GRCm39) R257Q probably null Het
Sdc1 A G 12: 8,840,835 (GRCm39) Q200R possibly damaging Het
Slc10a7 A G 8: 79,242,292 (GRCm39) T60A probably damaging Het
Snx13 A G 12: 35,156,800 (GRCm39) D484G probably damaging Het
Tlr1 G A 5: 65,083,797 (GRCm39) T260M probably damaging Het
Tpcn1 A G 5: 120,691,596 (GRCm39) V286A probably damaging Het
Traip T G 9: 107,845,936 (GRCm39) L343R possibly damaging Het
Unc13b A G 4: 43,165,828 (GRCm39) H204R probably damaging Het
Unc80 A G 1: 66,569,224 (GRCm39) S960G probably benign Het
V1ra8 C T 6: 90,180,184 (GRCm39) P129L probably benign Het
Vps13b T A 15: 35,930,202 (GRCm39) F3980I probably benign Het
Vps13d T C 4: 144,854,879 (GRCm39) N2248S probably benign Het
Vps26c G T 16: 94,302,549 (GRCm39) probably benign Het
Wnk4 T C 11: 101,154,783 (GRCm39) L324P probably damaging Het
Other mutations in Rab36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Rab36 APN 10 74,884,298 (GRCm39) missense probably damaging 1.00
IGL01554:Rab36 APN 10 74,886,520 (GRCm39) missense possibly damaging 0.50
R2022:Rab36 UTSW 10 74,888,306 (GRCm39) missense probably benign 0.13
R2907:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R2991:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3012:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3033:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3034:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3035:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3036:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3440:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3686:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3687:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R3688:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4398:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4426:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4427:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4433:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4456:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4457:Rab36 UTSW 10 74,880,328 (GRCm39) missense probably damaging 1.00
R4467:Rab36 UTSW 10 74,887,875 (GRCm39) nonsense probably null
R4689:Rab36 UTSW 10 74,877,765 (GRCm39) critical splice donor site probably null
R5043:Rab36 UTSW 10 74,886,837 (GRCm39) missense probably benign 0.00
R5568:Rab36 UTSW 10 74,888,311 (GRCm39) missense probably benign
R8354:Rab36 UTSW 10 74,884,291 (GRCm39) missense probably damaging 1.00
R8523:Rab36 UTSW 10 74,888,335 (GRCm39) missense probably benign
R9594:Rab36 UTSW 10 74,887,873 (GRCm39) missense probably damaging 0.96
R9703:Rab36 UTSW 10 74,886,474 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16