Incidental Mutation 'R0698:Rab13'
ID 62898
Institutional Source Beutler Lab
Gene Symbol Rab13
Ensembl Gene ENSMUSG00000027935
Gene Name RAB13, member RAS oncogene family
Synonyms 0610007N03Rik, B230212B15Rik
MMRRC Submission 038882-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0698 (G1)
Quality Score 137
Status Not validated
Chromosome 3
Chromosomal Location 90121022-90133694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90132043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 69 (T69M)
Ref Sequence ENSEMBL: ENSMUSP00000102996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065418] [ENSMUST00000107373]
AlphaFold Q9DD03
Predicted Effect probably damaging
Transcript: ENSMUST00000065418
AA Change: T150M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070588
Gene: ENSMUSG00000027935
AA Change: T150M

DomainStartEndE-ValueType
RAB 9 172 1.05e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107373
AA Change: T69M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102996
Gene: ENSMUSG00000027935
AA Change: T69M

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 C T 16: 35,110,452 (GRCm39) T873M possibly damaging Het
Ap4e1 G A 2: 126,905,283 (GRCm39) E985K probably benign Het
Arhgap18 T C 10: 26,788,625 (GRCm39) I579T probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Atm T C 9: 53,426,539 (GRCm39) E573G probably damaging Het
Baz1b T C 5: 135,227,075 (GRCm39) V92A probably damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Cpne4 T C 9: 104,802,994 (GRCm39) S213P probably damaging Het
Dock10 T A 1: 80,507,895 (GRCm39) Q1672L probably damaging Het
Grm8 C T 6: 27,363,913 (GRCm39) C534Y probably damaging Het
Ints7 A G 1: 191,326,576 (GRCm39) M183V probably damaging Het
Invs T G 4: 48,396,364 (GRCm39) S346A probably benign Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Lrrtm4 T C 6: 79,999,911 (GRCm39) L441P probably damaging Het
Map4 C T 9: 109,897,856 (GRCm39) R81* probably null Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Necab1 T C 4: 15,005,041 (GRCm39) N141S probably benign Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Pcdhb2 A T 18: 37,430,419 (GRCm39) E797D probably benign Het
Pclo T C 5: 14,762,530 (GRCm39) Y3668H unknown Het
Peg10 T A 6: 4,756,835 (GRCm39) probably benign Het
Psd2 A G 18: 36,145,764 (GRCm39) I723V probably benign Het
Ptprn2 C T 12: 116,685,750 (GRCm39) R70* probably null Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rpl32 T C 6: 115,782,551 (GRCm39) N126S probably benign Het
Sis C A 3: 72,817,831 (GRCm39) A1461S probably damaging Het
Slc2a13 T C 15: 91,205,870 (GRCm39) D439G probably benign Het
Spta1 T C 1: 174,008,670 (GRCm39) L258P probably damaging Het
Synj1 T C 16: 90,757,503 (GRCm39) T882A probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tet2 A T 3: 133,173,145 (GRCm39) S1706T probably benign Het
Ttc6 G A 12: 57,720,002 (GRCm39) V858I probably benign Het
Tut4 T A 4: 108,412,730 (GRCm39) M1477K probably benign Het
Vps13c C A 9: 67,797,005 (GRCm39) A464E probably benign Het
Zbtb17 T C 4: 141,193,407 (GRCm39) probably null Het
Zcwpw1 G A 5: 137,815,783 (GRCm39) E429K probably benign Het
Other mutations in Rab13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Rab13 UTSW 3 90,131,088 (GRCm39) splice site probably benign
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
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'- GCTTGTTTTGCTGCCTTCAGAATGC -3'
(R):5'- GCTTCAGTTCTTGCAGACACGC -3'

Sequencing Primer
(F):5'- CTCCTGCTGGGAAACAAGTG -3'
(R):5'- AGTGGTACTCAGCCCGAGTAG -3'
Posted On 2013-07-30