Incidental Mutation 'R5182:Rab43'
ID397609
Institutional Source Beutler Lab
Gene Symbol Rab43
Ensembl Gene ENSMUSG00000030055
Gene NameRAB43, member RAS oncogene family
Synonyms
MMRRC Submission 042853-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5182 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location87788853-87812164 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 87794655 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 118 (*118R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032134] [ENSMUST00000032135] [ENSMUST00000078647] [ENSMUST00000204419]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032134
AA Change: V60A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032134
Gene: ENSMUSG00000030055
AA Change: V60A

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 damaging
Transcript: ENSMUST00000032135
AA Change: V114A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032135
Gene: ENSMUSG00000030055
AA Change: V114A

DomainStartEndE-ValueType
RAB 17 150 5.47e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078647
AA Change: V114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077716
Gene: ENSMUSG00000030055
AA Change: V114A

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 null
Transcript: ENSMUST00000204169
AA Change: *118R
Predicted Effect probably benign
Transcript: ENSMUST00000204419
SMART Domains Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928

DomainStartEndE-ValueType
Pfam:Isy1 1 218 1.8e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204923
Meta Mutation Damage Score 0.326 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A G 19: 21,630,765 M1T probably null Het
Abcg8 T C 17: 84,692,744 L243P probably damaging Het
Ankrd27 A G 7: 35,628,487 T811A probably damaging Het
Auts2 T C 5: 131,475,081 N188S probably null Het
Bak1 G A 17: 27,022,748 P65L possibly damaging Het
Cep350 A C 1: 155,858,108 L3013R probably damaging Het
Clca3b A G 3: 144,828,015 I533T probably damaging Het
Col6a5 C A 9: 105,857,332 E2637* probably null Het
Coq5 G A 5: 115,279,756 R15H probably benign Het
Dnah5 T G 15: 28,311,278 I1801S probably damaging Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Dpf3 T C 12: 83,370,596 E34G probably damaging Het
Dst C A 1: 34,179,086 Q1536K probably benign Het
Eng T C 2: 32,672,959 probably null Het
Fam102b T C 3: 108,985,351 K173E possibly damaging Het
Fignl1 A T 11: 11,801,717 I446N probably damaging Het
Fras1 C A 5: 96,636,173 C845* probably null Het
Gfm2 T C 13: 97,162,893 V347A probably damaging Het
Gpld1 A T 13: 24,984,070 probably null Het
Grn C A 11: 102,430,554 probably benign Het
Gsdmc4 C A 15: 63,893,804 V299F probably damaging Het
Hrnr A T 3: 93,332,143 R3229S unknown Het
Icam5 A G 9: 21,034,810 T313A probably benign Het
Ift172 T A 5: 31,267,614 D668V possibly damaging Het
Kdm5a T A 6: 120,388,105 C322* probably null Het
Klk6 A G 7: 43,828,660 K152R probably benign Het
Man1a2 A C 3: 100,647,017 I250S probably damaging Het
Nkpd1 A G 7: 19,523,256 Y170C probably damaging Het
Nmd3 T A 3: 69,722,468 probably null Het
Olfr131 A G 17: 38,082,114 M288T probably benign Het
Olfr566 A T 7: 102,856,969 D104E probably benign Het
Pax4 C T 6: 28,444,369 E229K probably benign Het
Pdc T C 1: 150,333,354 I196T possibly damaging Het
Pld1 T C 3: 28,045,081 I299T probably damaging Het
Pnma1 T C 12: 84,147,045 I295V probably benign Het
Prkg2 T A 5: 99,024,709 Y49F probably benign Het
Psmd12 T C 11: 107,479,659 L28P probably damaging Het
Ptprg A G 14: 12,154,174 T632A probably benign Het
Rabep1 C T 11: 70,904,628 R227* probably null Het
Rad51c T G 11: 87,397,719 I213L possibly damaging Het
Ranbp17 A T 11: 33,219,287 probably benign Het
Ryr3 T C 2: 112,755,150 E2735G probably damaging Het
Sdc3 A G 4: 130,821,684 probably benign Het
Sirpa G A 2: 129,615,732 R242H possibly damaging Het
Slc12a4 G A 8: 105,944,606 T983M probably damaging Het
Snx7 A G 3: 117,832,857 Y252H probably damaging Het
St18 C T 1: 6,817,653 T482I probably benign Het
St7 A G 6: 17,846,237 Y163C probably damaging Het
Tas2r137 A T 6: 40,491,932 Q232L probably benign Het
Tgm6 A T 2: 130,141,302 K270N probably damaging Het
Tiam2 G A 17: 3,438,721 G768D probably damaging Het
Ttn C T 2: 76,870,429 probably benign Het
Ube4b A C 4: 149,381,242 S250R probably null Het
Ubxn2a G A 12: 4,880,634 A242V probably damaging Het
Usp10 G A 8: 119,956,681 V764I possibly damaging Het
Vmn1r222 A G 13: 23,232,497 L182P probably damaging Het
Vmn2r114 A G 17: 23,291,658 V616A probably damaging Het
Vps13a A G 19: 16,695,499 V1303A possibly damaging Het
Wnk2 G T 13: 49,061,161 T1315K possibly damaging Het
Zfp936 G A 7: 43,189,907 C266Y probably damaging Het
Zscan20 G T 4: 128,586,711 N662K possibly damaging Het
Other mutations in Rab43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Rab43 APN 6 87811424 missense probably damaging 0.97
R0924:Rab43 UTSW 6 87792770 nonsense probably null
R0930:Rab43 UTSW 6 87792770 nonsense probably null
R1704:Rab43 UTSW 6 87811381 unclassified probably null
Predicted Primers PCR Primer
(F):5'- ATCTGCAAGCTCCTAGTTCAGC -3'
(R):5'- ACACACTGTTCTGGGCATGG -3'

Sequencing Primer
(F):5'- AGCTCCTAGTTCAGCTTCCAG -3'
(R):5'- TCTGTGGGGCTGCCCTTC -3'
Posted On2016-07-06