Incidental Mutation 'IGL00508:Rab9'
ID3074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab9
Ensembl Gene ENSMUSG00000079316
Gene NameRAB9, member RAS oncogene family
SynonymsSID 99, 2410064E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.026) question?
Stock #IGL00508
Quality Score
Status
ChromosomeX
Chromosomal Location166457253-166479867 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 166457864 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 150 (Y150*)
Ref Sequence ENSEMBL: ENSMUSP00000123325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049435] [ENSMUST00000112091] [ENSMUST00000112192] [ENSMUST00000112194] [ENSMUST00000116495] [ENSMUST00000149315]
PDB Structure
GppNHp-Bound Rab9 GTPase [X-RAY DIFFRACTION]
Crystal structure of the Rab9A-RUTBC2 RBD complex [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000049435
AA Change: Y164*
SMART Domains Protein: ENSMUSP00000045127
Gene: ENSMUSG00000079316
AA Change: Y164*

DomainStartEndE-ValueType
RAB 22 189 1.01e-92 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112091
AA Change: Y150*
SMART Domains Protein: ENSMUSP00000123325
Gene: ENSMUSG00000079316
AA Change: Y150*

DomainStartEndE-ValueType
RAB 8 175 1.01e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112192
SMART Domains Protein: ENSMUSP00000107811
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 71 6.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112194
SMART Domains Protein: ENSMUSP00000107813
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 1.7e-51 PFAM
Pfam:Sybindin 46 137 8.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116495
SMART Domains Protein: ENSMUSP00000112195
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 1.6e-52 PFAM
Pfam:Sybindin 46 137 9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149315
SMART Domains Protein: ENSMUSP00000119240
Gene: ENSMUSG00000079316

DomainStartEndE-ValueType
Pfam:Miro 9 59 1.6e-6 PFAM
Pfam:Ras 9 59 3.4e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Rab9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Rab9 APN X 166457748 missense probably benign
R4177:Rab9 UTSW X 166458300 nonsense probably null
Posted On2012-04-20