Incidental Mutation 'IGL02151:Rab3d'
ID 282005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab3d
Ensembl Gene ENSMUSG00000019066
Gene Name RAB3D, member RAS oncogene family
Synonyms C130057E11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02151
Quality Score
Status
Chromosome 9
Chromosomal Location 21818787-21829488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21827020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 70 (R70M)
Ref Sequence ENSEMBL: ENSMUSP00000113322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115351] [ENSMUST00000119055] [ENSMUST00000122211] [ENSMUST00000128442]
AlphaFold P35276
Predicted Effect probably damaging
Transcript: ENSMUST00000115351
AA Change: R70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111008
Gene: ENSMUSG00000019066
AA Change: R70M

DomainStartEndE-ValueType
RAB 23 186 1.23e-96 SMART
low complexity region 193 204 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119055
AA Change: R70M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114106
Gene: ENSMUSG00000019066
AA Change: R70M

DomainStartEndE-ValueType
Pfam:Arf 14 130 3e-11 PFAM
Pfam:Gtr1_RagA 24 126 2.3e-7 PFAM
Pfam:Miro 24 128 2.2e-15 PFAM
Pfam:Ras 24 130 6.6e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122211
AA Change: R70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113322
Gene: ENSMUSG00000019066
AA Change: R70M

DomainStartEndE-ValueType
RAB 23 186 1.23e-96 SMART
low complexity region 193 204 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128442
AA Change: R70M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120067
Gene: ENSMUSG00000019066
AA Change: R70M

DomainStartEndE-ValueType
Pfam:Arf 14 106 1.5e-9 PFAM
Pfam:Gtr1_RagA 24 96 1.7e-6 PFAM
Pfam:Miro 24 106 1.4e-11 PFAM
Pfam:Ras 24 106 1.3e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154019
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene show no obvious phenotypic changes. Secretory granules in mast cells and some exocrine glands are double in volume however. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Lrch2 A G X: 146,336,716 (GRCm39) F111L possibly damaging Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Nxf3 A G X: 134,980,322 (GRCm39) F130S probably damaging Het
Or11a4 T A 17: 37,536,057 (GRCm39) F14I probably damaging Het
Or52ac1 A G 7: 104,245,741 (GRCm39) S216P probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc12a3 T G 8: 95,075,220 (GRCm39) V738G probably benign Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null Het
Other mutations in Rab3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0054:Rab3d UTSW 9 21,827,222 (GRCm39) missense possibly damaging 0.82
R0616:Rab3d UTSW 9 21,826,060 (GRCm39) missense probably damaging 1.00
R0629:Rab3d UTSW 9 21,825,982 (GRCm39) missense probably benign 0.00
R2437:Rab3d UTSW 9 21,827,147 (GRCm39) missense probably damaging 1.00
R3687:Rab3d UTSW 9 21,826,204 (GRCm39) missense probably damaging 1.00
R6061:Rab3d UTSW 9 21,821,815 (GRCm39) missense probably benign
R6062:Rab3d UTSW 9 21,821,815 (GRCm39) missense probably benign
R6065:Rab3d UTSW 9 21,821,815 (GRCm39) missense probably benign
R7962:Rab3d UTSW 9 21,826,229 (GRCm39) missense probably damaging 1.00
R8966:Rab3d UTSW 9 21,826,060 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16