Incidental Mutation 'R6061:Rab3d'
ID 483239
Institutional Source Beutler Lab
Gene Symbol Rab3d
Ensembl Gene ENSMUSG00000019066
Gene Name RAB3D, member RAS oncogene family
Synonyms C130057E11Rik
MMRRC Submission 044226-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6061 (G1)
Quality Score 225.009
Status Not 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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A C 6: 128,545,675 (GRCm39) F484C probably damaging Het
Aoc1l1 A C 6: 48,953,535 (GRCm39) I487L probably benign Het
Cdsn A G 17: 35,865,803 (GRCm39) S111G unknown Het
Ctnnal1 T C 4: 56,812,349 (GRCm39) T726A probably benign Het
Cyp2j11 T A 4: 96,236,853 (GRCm39) probably benign Het
Ddx60 T A 8: 62,476,275 (GRCm39) M1541K probably null Het
Dnah14 C T 1: 181,536,616 (GRCm39) P2420S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Glipr1l1 C T 10: 111,912,075 (GRCm39) T203M probably benign Het
Gm4353 T A 7: 115,683,504 (GRCm39) D97V probably benign Het
Gprc6a A T 10: 51,491,907 (GRCm39) I543K probably damaging Het
Ifi205 T C 1: 173,854,830 (GRCm39) T110A possibly damaging Het
Med27 T A 2: 29,399,453 (GRCm39) S95T probably damaging Het
Mocs1 T C 17: 49,757,341 (GRCm39) S308P probably damaging Het
Mrpl11 C T 19: 5,013,397 (GRCm39) S88F possibly damaging Het
Nav3 A T 10: 109,702,845 (GRCm39) Y229* probably null Het
Or2f1b A T 6: 42,739,899 (GRCm39) L304F probably damaging Het
Or2n1e A G 17: 38,585,772 (GRCm39) M37V probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Or52r1 C A 7: 102,537,158 (GRCm39) L67F probably benign Het
Or5g27 T A 2: 85,409,886 (GRCm39) M101K possibly damaging Het
Pear1 A G 3: 87,663,238 (GRCm39) I460T probably benign Het
Phc3 T A 3: 30,968,678 (GRCm39) K816N probably damaging Het
Phf19 T A 2: 34,787,129 (GRCm39) D445V probably damaging Het
Pkd2l2 T C 18: 34,563,742 (GRCm39) F486L probably damaging Het
Plagl1 G T 10: 13,003,639 (GRCm39) probably benign Het
Prkca A G 11: 107,948,671 (GRCm39) I106T probably benign Het
Ptpn3 C T 4: 57,248,681 (GRCm39) G218R probably damaging Het
Ptx3 A G 3: 66,132,130 (GRCm39) D217G possibly damaging Het
Rfx2 A G 17: 57,084,473 (GRCm39) F642S possibly damaging Het
Rhpn2 T A 7: 35,075,636 (GRCm39) M271K possibly damaging Het
Serpinb6b A G 13: 33,161,977 (GRCm39) T259A probably damaging Het
Speer3 G A 5: 13,844,705 (GRCm39) V123M possibly damaging Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Thbs4 A G 13: 92,888,303 (GRCm39) F950L probably benign Het
Tiparp T C 3: 65,460,664 (GRCm39) V551A probably damaging Het
Vmn2r71 T A 7: 85,268,482 (GRCm39) D228E probably benign Het
Vmn2r85 T C 10: 130,261,531 (GRCm39) I269V probably benign Het
Vps9d1 A T 8: 123,972,410 (GRCm39) M497K probably damaging Het
Wnt5b A G 6: 119,410,603 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,228,342 (GRCm39) N353S probably damaging Het
Zfp526 C T 7: 24,925,757 (GRCm39) T672M probably 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
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
Predicted Primers PCR Primer
(F):5'- GGGACATGAACTTGTGCAAG -3'
(R):5'- ACTCCACTTTCTAGGCCCAG -3'

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