Incidental Mutation 'R6113:Rab13'
ID 484944
Institutional Source Beutler Lab
Gene Symbol Rab13
Ensembl Gene ENSMUSG00000027935
Gene Name RAB13, member RAS oncogene family
Synonyms 0610007N03Rik, B230212B15Rik
MMRRC Submission 044262-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6113 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90121022-90133694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90132173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 86 (R86S)
Ref Sequence ENSEMBL: ENSMUSP00000102996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065418] [ENSMUST00000107373]
AlphaFold Q9DD03
Predicted Effect probably benign
Transcript: ENSMUST00000065418
AA Change: R167S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000070588
Gene: ENSMUSG00000027935
AA Change: R167S

DomainStartEndE-ValueType
RAB 9 172 1.05e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107373
AA Change: R86S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102996
Gene: ENSMUSG00000027935
AA Change: R86S

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C A 16: 8,390,764 (GRCm39) T7N probably benign Het
Aldh1l2 G T 10: 83,343,998 (GRCm39) C359* probably null Het
Atpsckmt T C 15: 31,608,308 (GRCm39) Y120H probably damaging Het
Bpifb6 G A 2: 153,752,651 (GRCm39) E384K probably benign Het
Chtf18 G A 17: 25,941,841 (GRCm39) R544C probably damaging Het
Cilp2 T C 8: 70,335,009 (GRCm39) D663G probably benign Het
Cplx3 T A 9: 57,509,723 (GRCm39) I92F probably damaging Het
Cr1l T C 1: 194,813,719 (GRCm39) probably benign Het
Cyp1a1 T A 9: 57,609,174 (GRCm39) F323I probably damaging Het
Dclk1 T C 3: 55,397,240 (GRCm39) Y186H probably benign Het
Dclre1c T C 2: 3,453,900 (GRCm39) L261P probably damaging Het
Dcst2 T C 3: 89,275,192 (GRCm39) S312P possibly damaging Het
Dnah17 A G 11: 118,017,101 (GRCm39) L213P probably damaging Het
Dnd1 T A 18: 36,898,448 (GRCm39) Y102F probably damaging Het
Dnm1l T C 16: 16,158,867 (GRCm39) N121S probably benign Het
Dsp T A 13: 38,376,023 (GRCm39) N1269K probably damaging Het
Dync1h1 T C 12: 110,586,848 (GRCm39) V943A probably benign Het
Eml5 T A 12: 98,790,933 (GRCm39) K1322* probably null Het
Fgf23 A G 6: 127,055,117 (GRCm39) T76A probably benign Het
Fgf6 T C 6: 126,992,900 (GRCm39) probably null Het
Fkbp15 G A 4: 62,258,884 (GRCm39) T124I probably benign Het
Gm12185 A T 11: 48,806,167 (GRCm39) H341Q possibly damaging Het
Gm20647 A G 5: 72,487,143 (GRCm39) probably benign Het
Lrp2 G C 2: 69,313,901 (GRCm39) R2277G possibly damaging Het
Lrrc69 T C 4: 14,708,673 (GRCm39) T224A probably benign Het
Ly75 T G 2: 60,199,217 (GRCm39) I175L probably benign Het
Morc2b G T 17: 33,357,042 (GRCm39) Y243* probably null Het
Myo18b C G 5: 113,014,251 (GRCm39) D764H probably damaging Het
Naip6 T C 13: 100,435,794 (GRCm39) S910G possibly damaging Het
Nbeal1 T A 1: 60,261,422 (GRCm39) I21N possibly damaging Het
P3h2 A T 16: 25,799,903 (GRCm39) I430K probably benign Het
Pcdh9 A G 14: 94,124,544 (GRCm39) V542A probably damaging Het
Pkp3 T A 7: 140,662,569 (GRCm39) N60K probably damaging Het
Pold1 C A 7: 44,187,124 (GRCm39) G686C probably damaging Het
Prdm6 T A 18: 53,606,673 (GRCm39) L58Q probably damaging Het
Rad21l A C 2: 151,499,398 (GRCm39) L265V probably damaging Het
Rec8 G A 14: 55,859,935 (GRCm39) A228T probably damaging Het
Rgs12 C A 5: 35,177,667 (GRCm39) R76S probably damaging Het
Sfmbt1 A G 14: 30,537,141 (GRCm39) N670D possibly damaging Het
Slc17a7 A G 7: 44,824,175 (GRCm39) T464A possibly damaging Het
Srcap C A 7: 127,159,453 (GRCm39) probably benign Het
Srgap2 A T 1: 131,283,243 (GRCm39) probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Thpo C A 16: 20,547,597 (GRCm39) probably benign Het
Tle4 A T 19: 14,572,952 (GRCm39) probably null Het
Tnfrsf14 T C 4: 155,008,949 (GRCm39) Q74R possibly damaging Het
Trav15-2-dv6-2 T G 14: 53,887,182 (GRCm39) V34G probably benign Het
Trbv13-1 C T 6: 41,093,313 (GRCm39) A82V probably benign Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Trpv3 G A 11: 73,176,844 (GRCm39) V408I probably benign Het
Tyk2 A T 9: 21,019,218 (GRCm39) V1068E probably damaging Het
Usp35 A G 7: 96,973,533 (GRCm39) S230P probably damaging Het
Utp25 T C 1: 192,811,810 (GRCm39) I46V probably null Het
Vav1 T A 17: 57,608,884 (GRCm39) D349E probably benign Het
Vcan T A 13: 89,805,655 (GRCm39) R114* probably null Het
Vmn1r25 T C 6: 57,955,557 (GRCm39) E244G probably benign Het
Vmn2r5 T C 3: 64,398,820 (GRCm39) T720A probably benign Het
Wdr72 T A 9: 74,059,923 (GRCm39) D444E probably benign Het
Zfhx3 T A 8: 109,674,053 (GRCm39) M1701K 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
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
R8927: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'- ATCGCTGAGTGCTTCGCTTC -3'
(R):5'- AGGATGAACATGAACTCCTGC -3'

Sequencing Primer
(F):5'- TACCTCATCCCCTACAGTTGG -3'
(R):5'- GATGAACATGAACTCCTGCTCCTTC -3'
Posted On 2017-08-16