Incidental Mutation 'R4018:Rab3c'
ID 312034
Institutional Source Beutler Lab
Gene Symbol Rab3c
Ensembl Gene ENSMUSG00000021700
Gene Name RAB3C, member RAS oncogene family
MMRRC Submission 040848-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4018 (G1)
Quality Score 213
Status Validated
Chromosome 13
Chromosomal Location 110054187-110280996 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110084194 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 144 (K144N)
Ref Sequence ENSEMBL: ENSMUSP00000153136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167824] [ENSMUST00000223922] [ENSMUST00000224180]
AlphaFold P62823
Predicted Effect probably damaging
Transcript: ENSMUST00000167824
AA Change: K144N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132945
Gene: ENSMUSG00000021700
AA Change: K144N

RAB 31 194 1.35e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223922
AA Change: K142N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224180
AA Change: K144N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 100% (33/33)
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 RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga A G 8: 53,523,191 (GRCm38) K319R probably benign Het
Brip1 G T 11: 86,138,851 (GRCm38) T619K possibly damaging Het
Cd300ld2 G T 11: 115,012,504 (GRCm38) probably benign Het
Cd300lg A G 11: 102,041,594 (GRCm38) R2G probably damaging Het
Celsr2 C T 3: 108,394,965 (GRCm38) V2616I possibly damaging Het
Edem3 C T 1: 151,804,826 (GRCm38) probably benign Het
Endou T A 15: 97,718,937 (GRCm38) K235M probably damaging Het
Gm5431 T A 11: 48,889,168 (GRCm38) N309I probably damaging Het
Il4 T A 11: 53,613,979 (GRCm38) probably benign Het
Iws1 C A 18: 32,070,152 (GRCm38) S27* probably null Het
Kdm5d T C Y: 910,441 (GRCm38) probably benign Het
Ldb3 T C 14: 34,552,171 (GRCm38) probably benign Het
Llgl2 A G 11: 115,847,612 (GRCm38) T284A probably benign Het
Maml1 A T 11: 50,265,784 (GRCm38) N521K probably damaging Het
Mlxipl T C 5: 135,132,672 (GRCm38) Y482H probably damaging Het
Notch2 G T 3: 98,104,565 (GRCm38) C633F probably damaging Het
Oc90 T C 15: 65,887,608 (GRCm38) D232G probably benign Het
Olfr1453 T C 19: 13,027,825 (GRCm38) E168G probably benign Het
Polr2a T C 11: 69,735,059 (GRCm38) Y1717C unknown Het
Prkca T A 11: 107,939,602 (GRCm38) I221F probably damaging Het
Ryr2 T A 13: 11,918,414 (GRCm38) N57I probably damaging Het
Scyl3 A G 1: 163,936,499 (GRCm38) T145A possibly damaging Het
Sept4 G A 11: 87,585,121 (GRCm38) R162Q probably damaging Het
Slc25a39 A T 11: 102,405,024 (GRCm38) L127H probably damaging Het
Slc9a9 T C 9: 94,685,163 (GRCm38) V95A probably benign Het
Tsc2 T C 17: 24,625,281 (GRCm38) I279V probably damaging Het
Usp34 C T 11: 23,489,033 (GRCm38) P3532S possibly damaging Het
Vmn2r6 T C 3: 64,556,472 (GRCm38) I314V probably benign Het
Wdr66 A G 5: 123,322,454 (GRCm38) I1160V probably benign Het
Other mutations in Rab3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1294:Rab3c UTSW 13 110,260,565 (GRCm38) missense possibly damaging 0.72
R1346:Rab3c UTSW 13 110,260,586 (GRCm38) missense probably damaging 1.00
R1819:Rab3c UTSW 13 110,084,135 (GRCm38) missense possibly damaging 0.52
R1903:Rab3c UTSW 13 110,084,210 (GRCm38) missense probably damaging 1.00
R2059:Rab3c UTSW 13 110,260,516 (GRCm38) missense probably damaging 1.00
R4707:Rab3c UTSW 13 110,061,900 (GRCm38) missense probably benign 0.00
R4784:Rab3c UTSW 13 110,061,900 (GRCm38) missense probably benign 0.00
R4785:Rab3c UTSW 13 110,061,900 (GRCm38) missense probably benign 0.00
R5305:Rab3c UTSW 13 110,181,077 (GRCm38) missense probably damaging 1.00
R5358:Rab3c UTSW 13 110,061,963 (GRCm38) missense possibly damaging 0.77
R8136:Rab3c UTSW 13 110,181,020 (GRCm38) nonsense probably null
R8739:Rab3c UTSW 13 110,260,601 (GRCm38) missense probably damaging 0.98
Z1177:Rab3c UTSW 13 110,260,486 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-29