Incidental Mutation 'IGL02197:Rab36'
ID284095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab36
Ensembl Gene ENSMUSG00000020175
Gene NameRAB36, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02197
Quality Score
Status
Chromosome10
Chromosomal Location75037058-75054748 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75052042 bp
ZygosityHeterozygous
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]
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
4932438A13Rik A G 3: 36,906,735 T445A probably damaging Het
Arhgap21 T C 2: 20,880,306 S526G probably benign Het
Atad2b A T 12: 5,018,056 N1018I possibly damaging Het
Baz1b A G 5: 135,209,097 E209G probably benign Het
Capn11 T A 17: 45,639,856 T264S probably benign Het
Cdh1 A G 8: 106,653,786 E187G probably benign Het
Cps1 A G 1: 67,157,764 I325V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dmbt1 A G 7: 131,085,422 probably benign Het
Dnaaf3 T C 7: 4,527,497 D203G probably damaging Het
Dscr3 G T 16: 94,501,690 probably benign Het
Eif2ak3 A G 6: 70,901,457 Y1045C probably benign Het
Fam13a T A 6: 58,935,601 D689V possibly damaging Het
Fnip1 T A 11: 54,493,374 L342I probably damaging Het
Frk T A 10: 34,484,334 N110K probably damaging Het
Gm5134 T C 10: 75,954,702 probably null Het
Gm53 T C 11: 96,251,723 noncoding transcript Het
Gm9312 A T 12: 24,252,162 noncoding transcript Het
Gm9936 A G 5: 114,857,091 probably benign Het
Hk3 A G 13: 55,014,468 F108L probably damaging Het
Homer2 A T 7: 81,610,399 S296T probably benign Het
Itga2b T A 11: 102,466,319 H245L probably benign Het
Ky T C 9: 102,537,786 F299S possibly damaging Het
Lama5 A G 2: 180,207,219 Y224H possibly damaging Het
Leng9 G T 7: 4,148,724 L318I probably damaging Het
Lpin1 A G 12: 16,558,407 probably null Het
Lrp2 T C 2: 69,466,880 I3246V probably benign Het
Map2k3 A G 11: 60,946,764 Y230C probably damaging Het
Myef2 T C 2: 125,114,039 probably null Het
Myh3 A T 11: 67,098,583 I1510L probably benign Het
Mypn T C 10: 63,123,278 D1088G possibly damaging Het
Nek9 C A 12: 85,307,930 V745L probably null Het
Neu1 T A 17: 34,934,665 V355D possibly damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr1212 A G 2: 88,958,684 T73A probably benign Het
Olfr49 T C 14: 54,281,952 *314W probably null Het
Papola A T 12: 105,829,183 N631I possibly damaging Het
Pcnx T C 12: 81,919,104 S682P probably benign Het
Pcnx T C 12: 81,993,151 S2071P possibly damaging Het
Pga5 A G 19: 10,671,913 probably benign Het
Phlda1 T A 10: 111,507,153 M250K probably damaging Het
Phox2b A G 5: 67,096,526 probably benign Het
Pkdrej A G 15: 85,815,793 Y1981H possibly damaging Het
Pold1 G A 7: 44,542,239 P108S probably benign Het
Ptprg T G 14: 12,220,613 F442V probably damaging Het
Scnn1b G A 7: 121,902,890 R257Q probably null Het
Sdc1 A G 12: 8,790,835 Q200R possibly damaging Het
Slc10a7 A G 8: 78,515,663 T60A probably damaging Het
Snx13 A G 12: 35,106,801 D484G probably damaging Het
Tlr1 G A 5: 64,926,454 T260M probably damaging Het
Tpcn1 A G 5: 120,553,531 V286A probably damaging Het
Traip T G 9: 107,968,737 L343R possibly damaging Het
Unc13b A G 4: 43,165,828 H204R probably damaging Het
Unc80 A G 1: 66,530,065 S960G probably benign Het
V1ra8 C T 6: 90,203,202 P129L probably benign Het
Vps13b T A 15: 35,930,056 F3980I probably benign Het
Vps13d T C 4: 145,128,309 N2248S probably benign Het
Wnk4 T C 11: 101,263,957 L324P probably damaging Het
Other mutations in Rab36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Rab36 APN 10 75048466 missense probably damaging 1.00
IGL01554:Rab36 APN 10 75050688 missense possibly damaging 0.50
R2022:Rab36 UTSW 10 75052474 missense probably benign 0.13
R2907:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R2991:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3012:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3033:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3034:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3035:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3036:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3440:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3686:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3687:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R3688:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4398:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4426:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4427:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4433:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4456:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4457:Rab36 UTSW 10 75044496 missense probably damaging 1.00
R4467:Rab36 UTSW 10 75052043 nonsense probably null
R4689:Rab36 UTSW 10 75041933 critical splice donor site probably null
R5043:Rab36 UTSW 10 75051005 missense probably benign 0.00
R5568:Rab36 UTSW 10 75052479 missense probably benign
R8354:Rab36 UTSW 10 75048459 missense probably damaging 1.00
R8523:Rab36 UTSW 10 75052503 missense probably benign
Posted On2015-04-16