Incidental Mutation 'R6062:Rab3d'
ID 483852
Institutional Source Beutler Lab
Gene Symbol Rab3d
Ensembl Gene ENSMUSG00000019066
Gene Name RAB3D, member RAS oncogene family
Synonyms C130057E11Rik
MMRRC Submission 044227-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6062 (G1)
Quality Score 208.009
Status Validated
Chromosome 9
Chromosomal Location 21818787-21829488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21821815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 209 (T209A)
Ref Sequence ENSEMBL: ENSMUSP00000113322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115351] [ENSMUST00000119055] [ENSMUST00000122211] [ENSMUST00000128442]
AlphaFold P35276
Predicted Effect probably benign
Transcript: ENSMUST00000115351
AA Change: T209A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111008
Gene: ENSMUSG00000019066
AA Change: T209A

DomainStartEndE-ValueType
RAB 23 186 1.23e-96 SMART
low complexity region 193 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119055
SMART Domains Protein: ENSMUSP00000114106
Gene: ENSMUSG00000019066

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 benign
Transcript: ENSMUST00000122211
AA Change: T209A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113322
Gene: ENSMUSG00000019066
AA Change: T209A

DomainStartEndE-ValueType
RAB 23 186 1.23e-96 SMART
low complexity region 193 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128442
SMART Domains Protein: ENSMUSP00000120067
Gene: ENSMUSG00000019066

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atat1 T A 17: 36,219,456 (GRCm39) Q136L probably damaging Het
Atm A G 9: 53,399,887 (GRCm39) L1531P probably damaging Het
Brca2 G A 5: 150,480,354 (GRCm39) R2708H probably damaging Het
Cand1 G A 10: 119,053,915 (GRCm39) A141V possibly damaging Het
Cdcp2 T C 4: 106,959,689 (GRCm39) S35P probably damaging Het
Ces4a G A 8: 105,864,806 (GRCm39) probably null Het
Colec10 T A 15: 54,323,203 (GRCm39) M142K possibly damaging Het
Crtc1 G T 8: 70,858,839 (GRCm39) D90E probably damaging Het
Csmd1 T C 8: 16,142,319 (GRCm39) E1528G possibly damaging Het
Csnk2a2 A G 8: 96,184,097 (GRCm39) V154A possibly damaging Het
Daglb T C 5: 143,480,358 (GRCm39) I454T probably benign Het
Dtna C A 18: 23,755,113 (GRCm39) N478K possibly damaging Het
E330034G19Rik A T 14: 24,343,448 (GRCm39) probably benign Het
Ecpas G T 4: 58,826,453 (GRCm39) S1038Y possibly damaging Het
Eefsec A T 6: 88,332,611 (GRCm39) S200T probably benign Het
Enthd1 T A 15: 80,336,916 (GRCm39) D506V probably damaging Het
Erbb2 A G 11: 98,324,075 (GRCm39) Y736C probably damaging Het
Gabrg1 A G 5: 70,938,056 (GRCm39) C183R probably damaging Het
Ginm1 T A 10: 7,651,097 (GRCm39) H103L probably benign Het
Golgb1 C A 16: 36,735,033 (GRCm39) Q1427K possibly damaging Het
Grb14 G T 2: 64,852,964 (GRCm39) Q9K possibly damaging Het
Hbp1 A T 12: 31,987,246 (GRCm39) M192K probably damaging Het
Herpud2 A T 9: 25,020,284 (GRCm39) D357E probably damaging Het
Idi1 A G 13: 8,937,541 (GRCm39) S111G probably damaging Het
Lrrc32 T C 7: 98,147,748 (GRCm39) V176A probably benign Het
Matn1 T A 4: 130,679,277 (GRCm39) D310E probably benign Het
Mbtps1 A T 8: 120,257,830 (GRCm39) L469Q possibly damaging Het
Muc4 A G 16: 32,579,682 (GRCm39) D2417G unknown Het
Myo7b T C 18: 32,101,043 (GRCm39) T1551A possibly damaging Het
Neb A G 2: 52,075,293 (GRCm39) M224T probably benign Het
Ola1 A T 2: 73,029,842 (GRCm39) D92E probably damaging Het
Or1e28-ps1 A C 11: 73,615,386 (GRCm39) C155G unknown Het
Or4l1 A T 14: 50,166,119 (GRCm39) M294K probably damaging Het
Or5ar1 T G 2: 85,671,458 (GRCm39) I226L probably benign Het
Or8b48 T A 9: 38,450,440 (GRCm39) M83K probably damaging Het
Otud4 T C 8: 80,400,525 (GRCm39) Y1080H probably damaging Het
Plce1 G A 19: 38,513,195 (GRCm39) A165T probably benign Het
Prelid2 T C 18: 42,045,530 (GRCm39) I127V probably benign Het
Rab35 A G 5: 115,778,147 (GRCm39) I38V probably damaging Het
Rapgef1 A G 2: 29,590,744 (GRCm39) E321G probably damaging Het
Rem1 T C 2: 152,470,017 (GRCm39) M1T probably null Het
Rgsl1 T C 1: 153,675,618 (GRCm39) K181R possibly damaging Het
Scel C A 14: 103,822,572 (GRCm39) N395K possibly damaging Het
Septin9 A G 11: 117,181,626 (GRCm39) E142G possibly damaging Het
Shcbp1 A C 8: 4,814,905 (GRCm39) M191R probably benign Het
Slc22a19 T C 19: 7,651,647 (GRCm39) N520S probably damaging Het
Slc28a1 C T 7: 80,765,311 (GRCm39) R9* probably null Het
Slc2a7 T C 4: 150,252,884 (GRCm39) V508A probably benign Het
Slc8a3 G A 12: 81,361,124 (GRCm39) P565L probably damaging Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tenm3 T G 8: 48,796,441 (GRCm39) I455L possibly damaging Het
Tmem267 T C 13: 120,070,767 (GRCm39) S141P probably damaging Het
Tnn T A 1: 159,925,848 (GRCm39) D1383V probably damaging Het
Usp9y G T Y: 1,454,199 (GRCm39) Q23K probably benign Het
Vmn1r46 T C 6: 89,953,241 (GRCm39) I30T possibly damaging Het
Zfp382 T C 7: 29,833,015 (GRCm39) L222P probably damaging Het
Zfp950 T A 19: 61,108,863 (GRCm39) K73N possibly damaging Het
Other mutations in Rab3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Rab3d APN 9 21,827,020 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGAGCATTCTGACATGGAGAG -3'
(R):5'- TTGGGACTCACATGACCGTC -3'

Sequencing Primer
(F):5'- AGGGACATGAACTTGTGCAAG -3'
(R):5'- ATGACCGTCGACACTGTCC -3'
Posted On 2017-07-14