Incidental Mutation 'R7012:Rab5c'
ID 545090
Institutional Source Beutler Lab
Gene Symbol Rab5c
Ensembl Gene ENSMUSG00000019173
Gene Name RAB5C, member RAS oncogene family
Synonyms
MMRRC Submission 045113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7012 (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 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,431 (GRCm39) F686L probably benign Het
Adcy4 C T 14: 56,017,376 (GRCm39) V266I possibly damaging Het
Adgrb1 A G 15: 74,401,750 (GRCm39) T249A probably damaging Het
Adss1 A G 12: 112,600,670 (GRCm39) D213G probably benign Het
Ap1b1 T G 11: 4,980,963 (GRCm39) V453G probably damaging Het
Apold1 G A 6: 134,961,007 (GRCm39) G154R probably damaging Het
Birc5 A G 11: 117,740,262 (GRCm39) E29G probably benign Het
Clcn1 G A 6: 42,267,542 (GRCm39) R75H probably benign Het
Cngb1 T A 8: 95,984,583 (GRCm39) I868F possibly damaging Het
Cntn6 T A 6: 104,703,223 (GRCm39) V215E probably damaging Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Col6a2 A T 10: 76,450,511 (GRCm39) I140N possibly damaging Het
Cops5 A G 1: 10,100,890 (GRCm39) *147Q probably null Het
Dbr1 T A 9: 99,465,374 (GRCm39) Y317* probably null Het
Dock5 A C 14: 68,060,035 (GRCm39) V468G probably damaging Het
F13b A G 1: 139,444,096 (GRCm39) I477V probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Git1 T C 11: 77,390,606 (GRCm39) L114P probably damaging Het
Greb1l G T 18: 10,529,707 (GRCm39) probably null Het
Itih4 A G 14: 30,612,706 (GRCm39) N244S probably benign Het
Lin28a A G 4: 133,746,040 (GRCm39) S5P probably damaging Het
Lipt1 T C 1: 37,915,060 (GRCm39) I372T probably benign Het
Lysmd4 A G 7: 66,875,765 (GRCm39) T143A probably benign Het
Muc16 T C 9: 18,406,914 (GRCm39) probably null Het
Or13c9 A G 4: 52,936,193 (GRCm39) L30P probably damaging Het
Or2y1g A T 11: 49,171,823 (GRCm39) M283L probably benign Het
Or5t16 A T 2: 86,819,051 (GRCm39) H156Q possibly damaging Het
Or6e1 A G 14: 54,519,674 (GRCm39) I226T possibly damaging Het
Pclo G A 5: 14,800,493 (GRCm39) G4438D unknown Het
Phlpp2 T A 8: 110,603,486 (GRCm39) F51I possibly damaging Het
Rxfp2 T C 5: 150,004,659 (GRCm39) V711A probably benign Het
Sbno2 A T 10: 79,905,352 (GRCm39) probably benign Het
Setd2 T A 9: 110,376,751 (GRCm39) S189T probably damaging Het
Sez6 A G 11: 77,868,621 (GRCm39) N965S probably benign Het
Sh3d19 A G 3: 85,992,320 (GRCm39) N116S probably benign Het
Slc43a3 T C 2: 84,777,313 (GRCm39) Y221H probably damaging Het
Slco1a6 T C 6: 142,032,287 (GRCm39) I613V probably benign Het
Stag3 T A 5: 138,295,871 (GRCm39) probably null Het
Ston1 T C 17: 88,943,413 (GRCm39) M273T probably damaging Het
Tbc1d32 A T 10: 56,100,820 (GRCm39) Y53N probably damaging Het
Tmem132b T A 5: 125,775,654 (GRCm39) L376Q probably damaging Het
Trim60 A G 8: 65,453,043 (GRCm39) V402A possibly damaging Het
Tssk5 A C 15: 76,257,745 (GRCm39) N178K probably damaging Het
Ttll9 T C 2: 152,844,982 (GRCm39) I450T possibly damaging Het
Tyw1 T G 5: 130,306,571 (GRCm39) probably null Het
Usp16 T C 16: 87,255,632 (GRCm39) probably null Het
Vmn2r97 T C 17: 19,167,756 (GRCm39) V670A probably damaging Het
Vmn2r98 A G 17: 19,286,530 (GRCm39) N343D probably benign Het
Zfp472 T G 17: 33,196,220 (GRCm39) N98K probably benign 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
R7058:Rab5c UTSW 11 100,610,789 (GRCm39) missense probably damaging 0.97
R7059: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'- GCATGAAGACTGACTGCTGG -3'
(R):5'- GATTTCTCCCTGCAGTTGGAG -3'

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