Incidental Mutation 'R8136:Rab3c'
ID 632272
Institutional Source Beutler Lab
Gene Symbol Rab3c
Ensembl Gene ENSMUSG00000021700
Gene Name RAB3C, member RAS oncogene family
Synonyms
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 110054187-110280996 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 110181020 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 110 (Y110*)
Ref Sequence ENSEMBL: ENSMUSP00000132945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167824] [ENSMUST00000223922] [ENSMUST00000224180]
AlphaFold P62823
Predicted Effect probably null
Transcript: ENSMUST00000167824
AA Change: Y110*
SMART Domains Protein: ENSMUSP00000132945
Gene: ENSMUSG00000021700
AA Change: Y110*

DomainStartEndE-ValueType
RAB 31 194 1.35e-93 SMART
Predicted Effect probably null
Transcript: ENSMUST00000223922
AA Change: Y108*
Predicted Effect probably null
Transcript: ENSMUST00000224180
AA Change: Y110*
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,248,397 M2462L probably benign Het
Aptx A G 4: 40,688,107 probably null Het
Bmpr1b A G 3: 141,856,382 I348T probably damaging Het
Btnl1 T A 17: 34,380,040 probably null Het
Col27a1 T A 4: 63,283,953 D960E probably benign Het
Crygn G T 5: 24,751,092 R172S probably benign Het
Cyp26a1 T C 19: 37,701,206 I450T probably benign Het
Emc2 A G 15: 43,511,806 Y233C probably benign Het
Esyt2 C A 12: 116,363,459 T549K probably benign Het
Fam71e1 T C 7: 44,500,280 F142L probably damaging Het
Gatm T C 2: 122,595,537 D411G probably damaging Het
Gpr65 T C 12: 98,275,156 Y23H probably damaging Het
Itpr1 A G 6: 108,438,360 R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,627,834 probably benign Het
Map3k19 A C 1: 127,823,755 S620A probably damaging Het
Mcm9 A G 10: 53,611,343 *543Q probably null Het
Mfsd2a A T 4: 122,951,867 C164S probably benign Het
Mta1 C A 12: 113,131,678 R484S probably damaging Het
Nlrp9a T G 7: 26,557,253 F99V probably benign Het
Notch2 G A 3: 98,124,221 C1137Y probably damaging Het
Olfr575 A T 7: 102,955,241 M120K probably damaging Het
Pcnx A G 12: 81,918,006 T316A probably benign Het
Phf11a A G 14: 59,277,569 V221A probably benign Het
Pigb A G 9: 73,022,320 L327P possibly damaging Het
Sdk2 G A 11: 113,851,713 T790M probably damaging Het
Slc22a2 C T 17: 12,606,030 P260S probably damaging Het
Sppl2a T C 2: 126,913,281 probably null Het
Tmem189 A C 2: 167,644,959 Y167D probably benign Het
Tnn T A 1: 160,107,060 Q1261L probably damaging Het
Treml4 C A 17: 48,264,717 Y49* probably null Het
Ttc37 A G 13: 76,113,103 K131R probably benign Het
Ubr3 T C 2: 70,021,179 I1827T probably damaging Het
Vrtn C T 12: 84,650,035 R520C probably damaging Het
Wipf1 G A 2: 73,437,535 P173L possibly damaging Het
Wls C A 3: 159,873,124 Q108K probably damaging Het
Zfp217 G A 2: 170,119,651 S252F possibly damaging Het
Zfp39 A T 11: 58,891,402 V178D probably damaging Het
Zfp777 C A 6: 48,044,625 R21L probably benign Het
Other mutations in Rab3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1294:Rab3c UTSW 13 110260565 missense possibly damaging 0.72
R1346:Rab3c UTSW 13 110260586 missense probably damaging 1.00
R1819:Rab3c UTSW 13 110084135 missense possibly damaging 0.52
R1903:Rab3c UTSW 13 110084210 missense probably damaging 1.00
R2059:Rab3c UTSW 13 110260516 missense probably damaging 1.00
R4018:Rab3c UTSW 13 110084194 missense probably damaging 1.00
R4707:Rab3c UTSW 13 110061900 missense probably benign 0.00
R4784:Rab3c UTSW 13 110061900 missense probably benign 0.00
R4785:Rab3c UTSW 13 110061900 missense probably benign 0.00
R5305:Rab3c UTSW 13 110181077 missense probably damaging 1.00
R5358:Rab3c UTSW 13 110061963 missense possibly damaging 0.77
R8739:Rab3c UTSW 13 110260601 missense probably damaging 0.98
Z1177:Rab3c UTSW 13 110260486 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTTCCTTGGCTCAGGGC -3'
(R):5'- GGAAGGAAAGACATCTGTACCC -3'

Sequencing Primer
(F):5'- CACAAGTGGGATTGTAGCTCATG -3'
(R):5'- GGAAAGACATCTGTACCCTGTAC -3'
Posted On 2020-06-30