Incidental Mutation 'R8927:Rab13'
ID 679586
Institutional Source Beutler Lab
Gene Symbol Rab13
Ensembl Gene ENSMUSG00000027935
Gene Name RAB13, member RAS oncogene family
Synonyms 0610007N03Rik, B230212B15Rik
MMRRC Submission 068771-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8927 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90121022-90133694 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 90128120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065418] [ENSMUST00000107373]
AlphaFold Q9DD03
Predicted Effect probably benign
Transcript: ENSMUST00000065418
SMART Domains Protein: ENSMUSP00000070588
Gene: ENSMUSG00000027935

DomainStartEndE-ValueType
RAB 9 172 1.05e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107373
SMART Domains Protein: ENSMUSP00000102996
Gene: ENSMUSG00000027935

DomainStartEndE-ValueType
Pfam:Miro 1 43 3.5e-6 PFAM
Pfam:Arf 1 88 1.8e-5 PFAM
Pfam:Ras 1 90 2.5e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,805 (GRCm39) R190* probably null Het
Aldh7a1 A T 18: 56,660,060 (GRCm39) S529T probably benign Het
Carmil2 T G 8: 106,415,130 (GRCm39) Y214* probably null Het
Ccdc136 A G 6: 29,406,109 (GRCm39) I152V probably damaging Het
Ccdc88c T C 12: 100,932,676 (GRCm39) D285G possibly damaging Het
Clec4a3 T A 6: 122,946,328 (GRCm39) F191I probably damaging Het
Dennd6b AGCTGGGGTCCCGC AGC 15: 89,069,780 (GRCm39) probably null Het
Dlg5 A T 14: 24,206,547 (GRCm39) S1222T Het
Dnaaf9 T A 2: 130,579,300 (GRCm39) R777* probably null Het
Dnah14 T G 1: 181,508,321 (GRCm39) L1833W probably damaging Het
Dsg2 T C 18: 20,725,535 (GRCm39) W549R probably damaging Het
Ezh2 A T 6: 47,510,713 (GRCm39) V632E possibly damaging Het
Fam83a G A 15: 57,873,313 (GRCm39) V381M probably benign Het
Fmo2 T C 1: 162,704,398 (GRCm39) T503A probably benign Het
Foxo1 T C 3: 52,252,703 (GRCm39) F289L probably damaging Het
Gckr A G 5: 31,456,903 (GRCm39) E96G probably damaging Het
Gm18596 G A 10: 77,578,162 (GRCm39) A104V unknown Het
Gm21680 A T 5: 26,176,347 (GRCm39) N83K probably damaging Het
Gnb5 T C 9: 75,252,236 (GRCm39) V393A possibly damaging Het
Grin2b T G 6: 135,749,339 (GRCm39) Q621P probably damaging Het
Gtsf2 T C 15: 103,352,783 (GRCm39) I79V probably benign Het
Itga1 T C 13: 115,105,055 (GRCm39) I1040V probably benign Het
Kif2b C T 11: 91,468,023 (GRCm39) E87K probably benign Het
Klk1b8 G A 7: 43,604,206 (GRCm39) G225S probably damaging Het
L3mbtl3 A T 10: 26,220,084 (GRCm39) C94S unknown Het
Man2c1 T G 9: 57,048,456 (GRCm39) Y872* probably null Het
Mical3 T A 6: 120,984,325 (GRCm39) M832L probably benign Het
Mrc2 A G 11: 105,216,334 (GRCm39) D41G probably benign Het
Nedd1 T A 10: 92,558,258 (GRCm39) probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Notch3 C T 17: 32,372,792 (GRCm39) R593Q probably benign Het
Nxpe3 T G 16: 55,669,997 (GRCm39) E369D possibly damaging Het
Obscn T A 11: 58,977,695 (GRCm39) T1802S possibly damaging Het
Or1e33 A T 11: 73,738,406 (GRCm39) F182I probably benign Het
Or2a7 T C 6: 43,151,669 (GRCm39) F250L probably benign Het
Or4k51 A T 2: 111,585,107 (GRCm39) H171L probably benign Het
Or9s14 A G 1: 92,536,438 (GRCm39) N293S probably damaging Het
Oscar A C 7: 3,614,747 (GRCm39) V75G probably benign Het
Pcdhb17 G A 18: 37,620,372 (GRCm39) A721T probably benign Het
Pcnx2 T C 8: 126,614,659 (GRCm39) Y264C probably benign Het
Pear1 G T 3: 87,661,890 (GRCm39) A495D probably damaging Het
Plekhf1 C A 7: 37,920,998 (GRCm39) R190L probably damaging Het
Plppr5 T C 3: 117,369,532 (GRCm39) V63A probably benign Het
Pyroxd1 T A 6: 142,300,437 (GRCm39) F189Y probably damaging Het
Rptor C T 11: 119,782,036 (GRCm39) T1121I probably benign Het
Scgb2b7 T C 7: 31,404,602 (GRCm39) S33G probably benign Het
Slc25a36 A G 9: 96,982,126 (GRCm39) probably null Het
Smtn T A 11: 3,479,477 (GRCm39) H530L possibly damaging Het
Srrt C T 5: 137,297,070 (GRCm39) C411Y probably benign Het
Stag1 C A 9: 100,587,298 (GRCm39) P7Q possibly damaging Het
Tarm1 G A 7: 3,537,719 (GRCm39) T248I possibly damaging Het
Tektl1 T C 10: 78,588,258 (GRCm39) Y184C probably damaging Het
Trim6 C T 7: 103,881,655 (GRCm39) A328V probably benign Het
Vmn1r189 T C 13: 22,286,811 (GRCm39) I9V probably benign Het
Vmn2r93 A G 17: 18,546,500 (GRCm39) T791A probably damaging Het
Vsig10l A G 7: 43,116,020 (GRCm39) T454A probably benign Het
Other mutations in Rab13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Rab13 UTSW 3 90,131,088 (GRCm39) splice site probably benign
R0698:Rab13 UTSW 3 90,132,043 (GRCm39) missense probably damaging 1.00
R2190:Rab13 UTSW 3 90,130,851 (GRCm39) missense probably damaging 1.00
R4690:Rab13 UTSW 3 90,128,330 (GRCm39) critical splice donor site probably null
R6113:Rab13 UTSW 3 90,132,173 (GRCm39) missense probably benign 0.06
R7182:Rab13 UTSW 3 90,132,070 (GRCm39) missense possibly damaging 0.48
R7388:Rab13 UTSW 3 90,128,327 (GRCm39) missense probably damaging 0.98
R7499:Rab13 UTSW 3 90,132,840 (GRCm39) missense probably benign 0.00
R7560:Rab13 UTSW 3 90,132,206 (GRCm39) missense probably benign
R8925:Rab13 UTSW 3 90,128,120 (GRCm39) intron probably benign
X0026:Rab13 UTSW 3 90,129,558 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTCCAATTCGGTCAAAAGAGAGG -3'
(R):5'- GAAGTTGTCCTCTGCAAAGCG -3'

Sequencing Primer
(F):5'- CAATTCGGTCAAAAGAGAGGAAAGAC -3'
(R):5'- GTTGTCCTCTGCAAAGCGAATGATC -3'
Posted On 2021-08-02