Incidental Mutation 'R4559:Rab22a'
ID 386353
Institutional Source Beutler Lab
Gene Symbol Rab22a
Ensembl Gene ENSMUSG00000027519
Gene Name RAB22A, member RAS oncogene family
Synonyms 3732413A17Rik, E130120E14Rik, Rab22
MMRRC Submission 041785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4559 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 173501638-173543975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 173503226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 13 (D13G)
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: D13G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519
AA Change: D13G

DomainStartEndE-ValueType
RAB 6 169 1.96e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109110
AA Change: D13G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519
AA Change: D13G

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 noncoding transcript
Transcript: ENSMUST00000133185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142320
Predicted Effect possibly damaging
Transcript: ENSMUST00000142820
AA Change: D13G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122799
Gene: ENSMUSG00000027519
AA Change: D13G

DomainStartEndE-ValueType
Pfam:Ras 7 61 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153162
Meta Mutation Damage Score 0.9293 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik A G 3: 40,567,240 (GRCm39) noncoding transcript Het
1700066M21Rik T C 1: 57,422,083 (GRCm39) F153S possibly damaging Het
Acss1 A G 2: 150,480,405 (GRCm39) V222A probably benign Het
Atad2b A G 12: 4,993,223 (GRCm39) I247M probably benign Het
Atxn10 A G 15: 85,322,321 (GRCm39) I398V possibly damaging Het
Cep192 T A 18: 68,004,584 (GRCm39) C2312S probably damaging Het
Cidea C T 18: 67,493,298 (GRCm39) Q106* probably null Het
Cnga4 A G 7: 105,054,892 (GRCm39) T159A probably damaging Het
Cyp2j12 G T 4: 96,001,194 (GRCm39) S304R probably damaging Het
Dennd2b A G 7: 109,124,785 (GRCm39) F665L probably damaging Het
Dsg4 T A 18: 20,603,978 (GRCm39) V815E probably damaging Het
Entrep1 G A 19: 24,007,913 (GRCm39) S130L probably damaging Het
Farp1 T C 14: 121,510,213 (GRCm39) M737T probably damaging Het
Fbn1 T A 2: 125,193,634 (GRCm39) D1395V possibly damaging Het
Fbn2 C T 18: 58,209,146 (GRCm39) M1076I probably benign Het
Fitm2 T A 2: 163,314,593 (GRCm39) probably benign Het
Fras1 A G 5: 96,929,148 (GRCm39) R3851G probably damaging Het
Frem2 C T 3: 53,561,742 (GRCm39) V922I probably benign Het
Gm10719 A T 9: 3,018,945 (GRCm39) T200S probably benign Het
Grin3a T C 4: 49,844,555 (GRCm39) D176G probably damaging Het
Hdac5 T C 11: 102,089,928 (GRCm39) probably benign Het
Ift140 C A 17: 25,309,741 (GRCm39) H1090Q probably damaging Het
Il20ra A G 10: 19,625,032 (GRCm39) T104A probably damaging Het
Il22ra2 A G 10: 19,502,460 (GRCm39) D93G possibly damaging Het
Ing1 A G 8: 11,612,090 (GRCm39) K176R probably benign Het
Jph1 A T 1: 17,074,735 (GRCm39) C428S probably benign Het
Kif13b G T 14: 65,043,581 (GRCm39) G1794W probably damaging Het
Map10 A G 8: 126,398,553 (GRCm39) T649A probably benign Het
Med12l T C 3: 58,914,523 (GRCm39) probably null Het
Nat8f1 A G 6: 85,887,567 (GRCm39) I131T probably benign Het
Oas1d C A 5: 121,054,958 (GRCm39) Q177K probably benign Het
Or4a74 C A 2: 89,440,043 (GRCm39) M134I probably damaging Het
Or51q1 G A 7: 103,628,767 (GRCm39) D123N probably damaging Het
P2ry2 A G 7: 100,647,363 (GRCm39) V314A possibly damaging Het
Pabir2 G A X: 52,349,554 (GRCm39) probably benign Het
Pfkl G T 10: 77,824,717 (GRCm39) R691S probably benign Het
Plb1 T A 5: 32,490,175 (GRCm39) I1005N probably damaging Het
Prkacb A G 3: 146,451,147 (GRCm39) probably benign Het
Ptprm A T 17: 66,990,403 (GRCm39) Y1412N possibly damaging Het
Rab29 G A 1: 131,800,305 (GRCm39) W201* probably null Het
Rasa3 T C 8: 13,648,259 (GRCm39) E135G probably damaging Het
Rassf10 A G 7: 112,554,338 (GRCm39) E313G probably benign Het
Sf1 GGCAGCAGCAGCAGCAGCAGC GGCAGCAGCAGCAGCAGC 19: 6,424,845 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,031,678 (GRCm39) L468Q probably damaging Het
Slc17a1 A T 13: 24,062,695 (GRCm39) K254* probably null Het
Slc6a12 G A 6: 121,340,820 (GRCm39) probably null Het
Slfn8 A G 11: 82,895,570 (GRCm39) L412P probably damaging Het
Taf4b T C 18: 14,946,583 (GRCm39) S469P probably damaging Het
Tgoln1 T C 6: 72,592,664 (GRCm39) E272G probably damaging Het
Tlr12 C A 4: 128,509,563 (GRCm39) G896W probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ttn G A 2: 76,749,890 (GRCm39) H3720Y probably benign Het
Other mutations in Rab22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Rab22a APN 2 173,530,003 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCAGAATCCTTCCCCAGTAC -3'
(R):5'- GACAACAGGAGTTACACCCG -3'

Sequencing Primer
(F):5'- CTTAGGCTAAGAAATCTGCCTGC -3'
(R):5'- AGGAGTTACACCCGGTCAC -3'
Posted On 2016-05-19