Incidental Mutation 'R0930:Rab43'
ID 80744
Institutional Source Beutler Lab
Gene Symbol Rab43
Ensembl Gene ENSMUSG00000030055
Gene Name RAB43, member RAS oncogene family
Synonyms 1810048P08Rik, 2500004H21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0930 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 87765835-87789146 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 87769752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 151 (Y151*)
Ref Sequence ENSEMBL: ENSMUSP00000077716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032134] [ENSMUST00000032135] [ENSMUST00000078647] [ENSMUST00000204419]
AlphaFold Q8CG50
Predicted Effect probably null
Transcript: ENSMUST00000032134
AA Change: Y97*
SMART Domains Protein: ENSMUSP00000032134
Gene: ENSMUSG00000030055
AA Change: Y97*

DomainStartEndE-ValueType
Pfam:Miro 4 78 3.2e-9 PFAM
Pfam:Ras 8 126 1e-37 PFAM
Pfam:Arf 10 124 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032135
SMART Domains Protein: ENSMUSP00000032135
Gene: ENSMUSG00000030055

DomainStartEndE-ValueType
RAB 17 150 5.47e-53 SMART
Predicted Effect probably null
Transcript: ENSMUST00000078647
AA Change: Y151*
SMART Domains Protein: ENSMUSP00000077716
Gene: ENSMUSG00000030055
AA Change: Y151*

DomainStartEndE-ValueType
RAB 17 181 4.15e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203746
Predicted Effect probably benign
Transcript: ENSMUST00000204419
SMART Domains Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928

DomainStartEndE-ValueType
Pfam:Isy1 1 218 1.8e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204923
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in dendritic cell antigen presentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G T 17: 84,990,705 (GRCm39) V16L probably benign Het
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Agpat4 A T 17: 12,417,723 (GRCm39) E88V probably damaging Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ankrd2 T A 19: 42,032,292 (GRCm39) probably null Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Caprin2 T C 6: 148,785,009 (GRCm39) probably null Het
Cars1 T A 7: 143,124,307 (GRCm39) H373L probably damaging Het
Ccdc191 G T 16: 43,751,618 (GRCm39) G316V probably damaging Het
Cd244a T A 1: 171,404,801 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Dact1 A G 12: 71,365,234 (GRCm39) R672G probably damaging Het
Dapk1 T C 13: 60,905,262 (GRCm39) F991L probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Exosc4 A G 15: 76,211,734 (GRCm39) I14M probably benign Het
Ezr G A 17: 7,021,398 (GRCm39) R180* probably null Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Fyb1 A T 15: 6,668,309 (GRCm39) I501F probably damaging Het
Hdac5 G T 11: 102,095,472 (GRCm39) P383Q probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Krt36 A G 11: 99,994,225 (GRCm39) F284S probably damaging Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lsamp G A 16: 41,709,327 (GRCm39) G86S probably benign Het
Myh8 A G 11: 67,196,824 (GRCm39) E1819G possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nphp4 T G 4: 152,622,512 (GRCm39) L599R probably benign Het
Nrcam A G 12: 44,596,667 (GRCm39) I301V probably benign Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Os9 C T 10: 126,932,924 (GRCm39) R547Q probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Plekho2 T C 9: 65,464,105 (GRCm39) D248G possibly damaging Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sdk2 A G 11: 113,729,271 (GRCm39) I1102T probably benign Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Slc3a1 A G 17: 85,367,171 (GRCm39) T453A probably benign Het
Sod1 A G 16: 90,022,071 (GRCm39) D93G probably benign Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Stxbp4 A C 11: 90,512,526 (GRCm39) M1R probably null Het
Tbc1d7 A T 13: 43,318,812 (GRCm39) Y108* probably null Het
Ticam1 A T 17: 56,577,226 (GRCm39) V623D unknown Het
Ticam1 A G 17: 56,578,687 (GRCm39) L136P probably damaging Het
Tjap1 A C 17: 46,569,455 (GRCm39) W512G possibly damaging Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Wdr45b A T 11: 121,221,040 (GRCm39) F213I probably damaging Het
Xdh A C 17: 74,230,077 (GRCm39) W285G probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Other mutations in Rab43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Rab43 APN 6 87,788,406 (GRCm39) missense probably damaging 0.97
BB007:Rab43 UTSW 6 87,788,348 (GRCm39) missense probably damaging 1.00
BB017:Rab43 UTSW 6 87,788,348 (GRCm39) missense probably damaging 1.00
R0924:Rab43 UTSW 6 87,769,752 (GRCm39) nonsense probably null
R1704:Rab43 UTSW 6 87,788,363 (GRCm39) splice site probably null
R5182:Rab43 UTSW 6 87,771,637 (GRCm39) makesense probably null
R7780:Rab43 UTSW 6 87,771,692 (GRCm39) missense probably damaging 1.00
R7930:Rab43 UTSW 6 87,788,348 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATACCCTGCATAGCATCTCCC -3'
(R):5'- GTCACCACACCTAGCAGTGTTACC -3'

Sequencing Primer
(F):5'- TCTAGAGAAGCCAGTGCCC -3'
(R):5'- CTAGCAGTGTTACCCTGGAG -3'
Posted On 2013-11-07