Incidental Mutation 'IGL01889:Rab22a'
ID179219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab22a
Ensembl Gene ENSMUSG00000027519
Gene NameRAB22A, member RAS oncogene family
SynonymsRab22, E130120E14Rik, 3732413A17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01889
Quality Score
Status
Chromosome2
Chromosomal Location173659760-173707343 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 173688238 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029024] [ENSMUST00000109110] [ENSMUST00000142820]
Predicted Effect probably benign
Transcript: ENSMUST00000029024
SMART Domains Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519

DomainStartEndE-ValueType
RAB 6 169 1.96e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109110
SMART Domains Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519

DomainStartEndE-ValueType
Pfam:Arf 1 159 2.7e-8 PFAM
Pfam:Miro 7 114 4.3e-14 PFAM
Pfam:Ras 7 161 2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142820
SMART Domains Protein: ENSMUSP00000122799
Gene: ENSMUSG00000027519

DomainStartEndE-ValueType
Pfam:Ras 7 61 1.1e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,828,000 probably benign Het
Brap G A 5: 121,660,818 V18I probably benign Het
Csmd1 C T 8: 15,998,857 V2282M probably damaging Het
Flnb A G 14: 7,935,967 E2269G possibly damaging Het
Gaa A G 11: 119,278,297 I557V probably benign Het
Gapt T A 13: 110,353,967 Q54L probably benign Het
Gsdmc A T 15: 63,780,003 I253N possibly damaging Het
Kcnj3 T A 2: 55,437,204 S2T possibly damaging Het
Mindy2 T C 9: 70,631,162 probably benign Het
Ncor1 A G 11: 62,334,601 V1048A possibly damaging Het
Nlrp4d A T 7: 10,378,334 V636D unknown Het
Nphs1 G T 7: 30,460,511 R82S probably damaging Het
Olfr1269 A G 2: 90,118,965 V211A possibly damaging Het
Olfr1336 G A 7: 6,460,503 probably benign Het
Olfr512 T A 7: 108,713,882 F164L probably benign Het
Papln T A 12: 83,786,835 L1175Q probably benign Het
Rel A G 11: 23,757,035 Y56H probably damaging Het
Sdc4 A G 2: 164,431,207 L61P probably damaging Het
Slc1a4 A G 11: 20,314,089 probably benign Het
Ubr4 T A 4: 139,462,472 C3989* probably null Het
Zfyve16 A G 13: 92,522,569 V278A possibly damaging Het
Other mutations in Rab22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Rab22a APN 2 173688210 missense probably damaging 1.00
IGL03113:Rab22a APN 2 173661472 missense probably damaging 1.00
PIT1430001:Rab22a UTSW 2 173695170 missense probably benign 0.09
R0304:Rab22a UTSW 2 173661459 missense probably damaging 1.00
R1937:Rab22a UTSW 2 173688211 missense probably damaging 1.00
R2914:Rab22a UTSW 2 173695281 missense probably benign 0.00
R4473:Rab22a UTSW 2 173695263 missense probably damaging 1.00
R4474:Rab22a UTSW 2 173695263 missense probably damaging 1.00
R4476:Rab22a UTSW 2 173695263 missense probably damaging 1.00
R4559:Rab22a UTSW 2 173661433 missense probably damaging 1.00
R5163:Rab22a UTSW 2 173661487 missense probably damaging 0.99
R5934:Rab22a UTSW 2 173661504 missense probably damaging 1.00
R6753:Rab22a UTSW 2 173701055 missense probably benign
R7654:Rab22a UTSW 2 173688175 missense probably benign 0.00
Posted On2014-05-07