Incidental Mutation 'R7499:Rab13'
ID 581356
Institutional Source Beutler Lab
Gene Symbol Rab13
Ensembl Gene ENSMUSG00000027935
Gene Name RAB13, member RAS oncogene family
Synonyms 0610007N03Rik, B230212B15Rik
MMRRC Submission 045572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7499 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90121022-90133694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90132840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000070588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065418] [ENSMUST00000107373]
AlphaFold Q9DD03
Predicted Effect probably benign
Transcript: ENSMUST00000065418
AA Change: T187A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070588
Gene: ENSMUSG00000027935
AA Change: T187A

DomainStartEndE-ValueType
RAB 9 172 1.05e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107373
AA Change: T106A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102996
Gene: ENSMUSG00000027935
AA Change: T106A

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: 99.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,907,186 (GRCm39) D180V possibly damaging Het
Abat T C 16: 8,421,618 (GRCm39) probably null Het
Ankfn1 G A 11: 89,282,576 (GRCm39) T357I probably benign Het
Armc3 C T 2: 19,290,790 (GRCm39) T423I probably benign Het
Asb6 T C 2: 30,714,472 (GRCm39) T213A possibly damaging Het
Atp11a T C 8: 12,882,575 (GRCm39) C488R probably benign Het
Bag6 G A 17: 35,363,368 (GRCm39) R736H probably benign Het
Bche G A 3: 73,609,231 (GRCm39) P65L probably damaging Het
Cela3a T A 4: 137,132,950 (GRCm39) I101F probably damaging Het
Cep170 A T 1: 176,602,028 (GRCm39) D359E probably damaging Het
Chfr T C 5: 110,299,549 (GRCm39) V314A probably benign Het
Clpb T C 7: 101,371,935 (GRCm39) F224L possibly damaging Het
Coro2a T C 4: 46,539,188 (GRCm39) K527R probably benign Het
Cpa5 A G 6: 30,630,856 (GRCm39) T373A possibly damaging Het
Ctsd A T 7: 141,937,149 (GRCm39) probably null Het
Dlx5 G A 6: 6,878,340 (GRCm39) S230F possibly damaging Het
Dlx5 A C 6: 6,878,341 (GRCm39) S230A probably benign Het
Dmc1 G T 15: 79,486,621 (GRCm39) S11* probably null Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dnah3 A G 7: 119,660,135 (GRCm39) F846L probably damaging Het
Dnah5 A T 15: 28,302,596 (GRCm39) I1618F probably damaging Het
Emsy A G 7: 98,279,538 (GRCm39) V267A possibly damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Frem1 T C 4: 82,924,007 (GRCm39) I317M probably damaging Het
G6pc1 C A 11: 101,267,520 (GRCm39) Y323* probably null Het
Gm5114 A G 7: 39,058,489 (GRCm39) C377R possibly damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Hmbox1 A G 14: 65,134,126 (GRCm39) V158A possibly damaging Het
Hmg20a A G 9: 56,396,227 (GRCm39) R340G unknown Het
Ifi206 T A 1: 173,309,607 (GRCm39) I130F Het
Ifnb1 T C 4: 88,440,911 (GRCm39) N34S probably benign Het
Il16 T C 7: 83,323,702 (GRCm39) K283E probably damaging Het
Maf T C 8: 116,419,920 (GRCm39) D374G probably benign Het
Mettl14 A G 3: 123,168,503 (GRCm39) I179T probably benign Het
Mpped1 G A 15: 83,684,251 (GRCm39) R91H probably damaging Het
Nop2 C A 6: 125,121,171 (GRCm39) P651Q possibly damaging Het
Or5p62 A G 7: 107,771,007 (GRCm39) *315Q probably null Het
Phkg1 G A 5: 129,902,109 (GRCm39) Q89* probably null Het
Phykpl T A 11: 51,482,285 (GRCm39) V133E probably damaging Het
Polr3gl A T 3: 96,487,137 (GRCm39) Y183N probably benign Het
Ripor2 A G 13: 24,877,755 (GRCm39) M252V probably damaging Het
Sec61a2 T C 2: 5,882,725 (GRCm39) N186S probably benign Het
Serpinb5 T C 1: 106,800,119 (GRCm39) probably null Het
Serpine3 G A 14: 62,902,476 (GRCm39) W29* probably null Het
Sh2b3 T C 5: 121,956,536 (GRCm39) R382G probably damaging Het
Slc66a1 T A 4: 139,033,823 (GRCm39) D32V probably damaging Het
Slc7a5 A G 8: 122,610,461 (GRCm39) L451P probably damaging Het
Slco1a5 T C 6: 142,208,257 (GRCm39) probably null Het
Tep1 G A 14: 51,091,047 (GRCm39) A695V probably damaging Het
Tnik T C 3: 28,684,743 (GRCm39) V857A possibly damaging Het
Trdn A T 10: 33,072,097 (GRCm39) M255L probably benign Het
Tsc22d4 G A 5: 137,745,985 (GRCm39) S203N probably benign Het
Tsfm T C 10: 126,858,417 (GRCm39) E316G possibly damaging Het
Tvp23b T C 11: 62,770,289 (GRCm39) probably benign Het
Vgf C A 5: 137,061,099 (GRCm39) D420E probably damaging Het
Zan G A 5: 137,462,618 (GRCm39) P854S probably benign Het
Zfp831 T C 2: 174,485,816 (GRCm39) S164P possibly damaging 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
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'- GGAACAATGCCAAAGATTTCCC -3'
(R):5'- TGGAGAGATCAGCATGTTGAC -3'

Sequencing Primer
(F):5'- GCCAAAGATTTCCCATGAAGTG -3'
(R):5'- CAGCATGTTGACTTTAATGTTGGAC -3'
Posted On 2019-10-17