Incidental Mutation 'IGL01061:Rab22a'
ID 50379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab22a
Ensembl Gene ENSMUSG00000027519
Gene Name RAB22A, member RAS oncogene family
Synonyms 3732413A17Rik, E130120E14Rik, Rab22
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01061
Quality Score
Status
Chromosome 2
Chromosomal Location 173501638-173543975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 173530003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
Ref Sequence ENSEMBL: ENSMUSP00000104738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029024] [ENSMUST00000109110] [ENSMUST00000142820]
AlphaFold P35285
Predicted Effect probably damaging
Transcript: ENSMUST00000029024
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519
AA Change: D60E

DomainStartEndE-ValueType
RAB 6 169 1.96e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109110
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519
AA Change: D60E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Rab22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:Rab22a APN 2 173,530,031 (GRCm39) intron probably benign
IGL03113:Rab22a APN 2 173,503,265 (GRCm39) missense probably damaging 1.00
PIT1430001:Rab22a UTSW 2 173,536,963 (GRCm39) missense probably benign 0.09
R0304:Rab22a UTSW 2 173,503,252 (GRCm39) missense probably damaging 1.00
R1937:Rab22a UTSW 2 173,530,004 (GRCm39) missense probably damaging 1.00
R2914:Rab22a UTSW 2 173,537,074 (GRCm39) missense probably benign 0.00
R4473:Rab22a UTSW 2 173,537,056 (GRCm39) missense probably damaging 1.00
R4474:Rab22a UTSW 2 173,537,056 (GRCm39) missense probably damaging 1.00
R4476:Rab22a UTSW 2 173,537,056 (GRCm39) missense probably damaging 1.00
R4559:Rab22a UTSW 2 173,503,226 (GRCm39) missense probably damaging 1.00
R5163:Rab22a UTSW 2 173,503,280 (GRCm39) missense probably damaging 0.99
R5934:Rab22a UTSW 2 173,503,297 (GRCm39) missense probably damaging 1.00
R6753:Rab22a UTSW 2 173,542,848 (GRCm39) missense probably benign
R7654:Rab22a UTSW 2 173,529,968 (GRCm39) missense probably benign 0.00
R8089:Rab22a UTSW 2 173,530,013 (GRCm39) nonsense probably null
Posted On 2013-06-21