Incidental Mutation 'R7059:Rab5c'
ID 548135
Institutional Source Beutler Lab
Gene Symbol Rab5c
Ensembl Gene ENSMUSG00000019173
Gene Name RAB5C, member RAS oncogene family
Synonyms
MMRRC Submission 045156-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7059 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100605835-100629041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100610789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 40 (R40C)
Ref Sequence ENSEMBL: ENSMUSP00000019317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019317] [ENSMUST00000107364] [ENSMUST00000155500] [ENSMUST00000155843]
AlphaFold P35278
Predicted Effect probably damaging
Transcript: ENSMUST00000019317
AA Change: R40C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019317
Gene: ENSMUSG00000019173
AA Change: R40C

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 22 203 6.29e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107364
AA Change: R40C

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102987
Gene: ENSMUSG00000019173
AA Change: R40C

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 22 185 3.37e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155500
Predicted Effect probably benign
Transcript: ENSMUST00000155843
AA Change: R40C

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123581
Gene: ENSMUSG00000019173
AA Change: R40C

DomainStartEndE-ValueType
Pfam:Arf 15 83 1.1e-5 PFAM
Pfam:Miro 23 83 2.8e-10 PFAM
Pfam:Ras 23 83 7.8e-25 PFAM
Meta Mutation Damage Score 0.9422 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,509 (GRCm39) probably benign Het
Abca16 A G 7: 120,020,971 (GRCm39) T5A probably benign Het
Abraxas1 T C 5: 100,954,103 (GRCm39) D349G probably benign Het
Adcyap1r1 T A 6: 55,468,295 (GRCm39) L405Q probably damaging Het
Aqp5 A T 15: 99,492,127 (GRCm39) T125S probably benign Het
Asah1 A T 8: 41,800,106 (GRCm39) N169K probably damaging Het
Atl3 A G 19: 7,511,333 (GRCm39) N515D probably benign Het
Atl3 A C 19: 7,511,334 (GRCm39) N520T probably benign Het
Atp6v1c2 C A 12: 17,339,005 (GRCm39) E249* probably null Het
Bcl2a1b T A 9: 89,081,813 (GRCm39) I134K probably damaging Het
Brd10 T A 19: 29,696,945 (GRCm39) E849D probably benign Het
Btbd10 C T 7: 112,929,129 (GRCm39) R159H probably damaging Het
Chmp6 T C 11: 119,806,866 (GRCm39) F7L probably damaging Het
Colq C A 14: 31,247,991 (GRCm39) C409F probably damaging Het
Cpox T A 16: 58,491,290 (GRCm39) V167E probably damaging Het
Cul3 T C 1: 80,254,141 (GRCm39) Y545C probably benign Het
Dqx1 C T 6: 83,041,790 (GRCm39) A544V probably benign Het
Dzip3 A G 16: 48,801,305 (GRCm39) I73T probably benign Het
Epha3 T A 16: 63,388,818 (GRCm39) Y810F probably damaging Het
Esp36 A T 17: 38,727,942 (GRCm39) I113N unknown Het
Fbxw17 T A 13: 50,586,584 (GRCm39) W429R probably damaging Het
Fcrl2 A T 3: 87,164,647 (GRCm39) I293N possibly damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Gm8126 T A 14: 43,118,975 (GRCm39) L148H probably benign Het
Gpr39 C A 1: 125,605,696 (GRCm39) S208Y probably damaging Het
Heatr5a T C 12: 51,935,017 (GRCm39) E1662G probably damaging Het
Hgfac T A 5: 35,201,773 (GRCm39) L302Q possibly damaging Het
Itih1 G A 14: 30,653,266 (GRCm39) H721Y possibly damaging Het
Kat8 A G 7: 127,524,075 (GRCm39) I372V probably benign Het
Kcnk1 T A 8: 126,756,466 (GRCm39) Y329* probably null Het
Kcns2 A T 15: 34,838,981 (GRCm39) I115F probably damaging Het
Kif1a C T 1: 92,974,551 (GRCm39) probably benign Het
Lcn2 T A 2: 32,277,608 (GRCm39) D127V possibly damaging Het
Lrfn1 T C 7: 28,166,355 (GRCm39) V583A possibly damaging Het
Map3k1 T C 13: 111,909,312 (GRCm39) I55V probably benign Het
Mapk9 T C 11: 49,757,874 (GRCm39) probably null Het
Mrpl18 A G 17: 13,132,668 (GRCm39) S154P possibly damaging Het
Mst1 C A 9: 107,961,263 (GRCm39) H524Q probably benign Het
Mtpap T C 18: 4,396,202 (GRCm39) L498P probably damaging Het
Myl3 C T 9: 110,571,105 (GRCm39) probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Mzf1 G T 7: 12,786,985 (GRCm39) S28R probably damaging Het
Olfm1 T C 2: 28,112,628 (GRCm39) S205P probably damaging Het
Or52e8 A T 7: 104,625,224 (GRCm39) probably null Het
Prrc2a G A 17: 35,376,364 (GRCm39) P809S probably damaging Het
Rbm48 A T 5: 3,640,625 (GRCm39) C251* probably null Het
Rxfp1 A T 3: 79,559,576 (GRCm39) V415E probably damaging Het
Slc12a6 T A 2: 112,183,257 (GRCm39) L748Q probably damaging Het
Slc19a3 T A 1: 83,000,090 (GRCm39) Y309F probably damaging Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc38a4 G T 15: 96,906,895 (GRCm39) S281* probably null Het
Syne1 A T 10: 5,296,859 (GRCm39) S1201T probably damaging Het
Tex15 C A 8: 34,064,758 (GRCm39) T1396K possibly damaging Het
Zswim8 G T 14: 20,764,641 (GRCm39) probably null Het
Other mutations in Rab5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4669:Rab5c UTSW 11 100,610,843 (GRCm39) missense probably damaging 0.99
R7008:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7012:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7058:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7060:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7061:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7269:Rab5c UTSW 11 100,606,928 (GRCm39) missense probably benign 0.13
R8375:Rab5c UTSW 11 100,607,609 (GRCm39) missense probably damaging 0.98
R9661:Rab5c UTSW 11 100,606,917 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGAAGACTGACTGCTGGATTC -3'
(R):5'- TGATTTCTCCCTGCAGTTGGAG -3'

Sequencing Primer
(F):5'- GAAGACTGACTGCTGGATTCAACTC -3'
(R):5'- AAGTGCCTCTTTGCATAGCAC -3'
Posted On 2019-05-13