Incidental Mutation 'IGL01391:Rab3b'
ID79195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab3b
Ensembl Gene ENSMUSG00000003411
Gene NameRAB3B, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01391
Quality Score
Status
Chromosome4
Chromosomal Location108879063-108943324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108940802 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 226 (C226R)
Ref Sequence ENSEMBL: ENSMUSP00000102262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003502] [ENSMUST00000106650] [ENSMUST00000106651]
Predicted Effect probably damaging
Transcript: ENSMUST00000003502
AA Change: C217R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003502
Gene: ENSMUSG00000003411
AA Change: C217R

DomainStartEndE-ValueType
RAB 23 186 1.86e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106650
AA Change: C217R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102261
Gene: ENSMUSG00000003411
AA Change: C217R

DomainStartEndE-ValueType
RAB 23 186 1.86e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106651
AA Change: C226R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102262
Gene: ENSMUSG00000003411
AA Change: C226R

DomainStartEndE-ValueType
RAB 23 195 4.88e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157062
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Rab3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rab3b APN 4 108924026 critical splice donor site probably null
IGL01636:Rab3b APN 4 108940719 missense possibly damaging 0.55
IGL01777:Rab3b APN 4 108929410 missense probably damaging 1.00
R0601:Rab3b UTSW 4 108890389 missense probably damaging 1.00
R1884:Rab3b UTSW 4 108929452 missense probably damaging 1.00
R2302:Rab3b UTSW 4 108929443 missense probably damaging 0.99
R2312:Rab3b UTSW 4 108890494 missense probably damaging 1.00
R8744:Rab3b UTSW 4 108923987 missense probably damaging 0.99
X0024:Rab3b UTSW 4 108890308 start codon destroyed probably null 0.98
Posted On2013-11-05