Incidental Mutation 'R7636:Rab1b'
ID 589987
Institutional Source Beutler Lab
Gene Symbol Rab1b
Ensembl Gene ENSMUSG00000024870
Gene Name RAB1B, member RAS oncogene family
Synonyms 1110011F09Rik
MMRRC Submission 045722-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # R7636 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5149235-5157024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5150810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 99 (V99E)
Ref Sequence ENSEMBL: ENSMUSP00000025804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025804] [ENSMUST00000025805]
AlphaFold Q9D1G1
Predicted Effect probably damaging
Transcript: ENSMUST00000025804
AA Change: V99E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870
AA Change: V99E

DomainStartEndE-ValueType
RAB 9 172 4.57e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025805
SMART Domains Protein: ENSMUSP00000025805
Gene: ENSMUSG00000024873

DomainStartEndE-ValueType
Pfam:Cornichon 7 151 5.3e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion do not exhibit a detectable mutant phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik C T 16: 16,935,701 (GRCm39) E199K possibly damaging Het
Akap13 C A 7: 75,259,621 (GRCm39) N748K probably benign Het
Aldh16a1 G T 7: 44,796,955 (GRCm39) P58T unknown Het
Amhr2 T A 15: 102,360,893 (GRCm39) C343S probably damaging Het
Ankrd17 A T 5: 90,380,239 (GRCm39) M2483K possibly damaging Het
Ano3 A T 2: 110,513,048 (GRCm39) L649* probably null Het
Apob T C 12: 8,059,516 (GRCm39) I2666T possibly damaging Het
C1ql3 A T 2: 13,015,621 (GRCm39) V13E probably benign Het
Casp12 A G 9: 5,358,344 (GRCm39) I384V probably benign Het
Cimip2a A T 2: 25,108,832 (GRCm39) H7L probably damaging Het
Clcn1 A T 6: 42,268,268 (GRCm39) K147* probably null Het
Ctnna1 T A 18: 35,356,526 (GRCm39) N398K possibly damaging Het
Dcdc2a A T 13: 25,286,605 (GRCm39) K176M probably damaging Het
Depdc5 T A 5: 33,075,327 (GRCm39) S502T probably benign Het
Fam83e G A 7: 45,376,450 (GRCm39) D388N probably damaging Het
Fbxl15 G A 19: 46,317,614 (GRCm39) E99K probably benign Het
Fbxw2 T C 2: 34,702,956 (GRCm39) T186A probably benign Het
Frem2 T A 3: 53,560,668 (GRCm39) M1280L probably benign Het
Gbgt1 T A 2: 28,395,326 (GRCm39) D321E probably damaging Het
Gsdmc2 T A 15: 63,700,041 (GRCm39) T244S probably benign Het
Heatr5a C A 12: 51,934,979 (GRCm39) G1675W probably damaging Het
Heatr5a G A 12: 51,999,341 (GRCm39) L287F probably damaging Het
Hfm1 C A 5: 107,065,332 (GRCm39) A116S probably benign Het
Insr A G 8: 3,308,709 (GRCm39) I109T probably damaging Het
Itga4 A G 2: 79,144,176 (GRCm39) I688V probably benign Het
Lipe A G 7: 25,088,042 (GRCm39) M49T probably benign Het
Lrriq3 A G 3: 154,893,787 (GRCm39) Y496C probably damaging Het
Lyst T C 13: 13,791,332 (GRCm39) probably null Het
Megf10 T A 18: 57,410,061 (GRCm39) I614N possibly damaging Het
Mkx A G 18: 7,000,630 (GRCm39) I104T possibly damaging Het
Mrgpra4 C A 7: 47,630,721 (GRCm39) L293F possibly damaging Het
Olfm2 A G 9: 20,579,593 (GRCm39) V386A possibly damaging Het
Or2w3b A T 11: 58,623,273 (GRCm39) N239K possibly damaging Het
Or4a15 A T 2: 89,193,583 (GRCm39) Y63* probably null Het
Or52s6 C A 7: 103,092,040 (GRCm39) D97Y probably damaging Het
Pkd2l1 G T 19: 44,179,870 (GRCm39) D113E possibly damaging Het
Rab11fip2 A T 19: 59,931,317 (GRCm39) I39K possibly damaging Het
Rad54l2 A T 9: 106,597,586 (GRCm39) L140Q probably damaging Het
Repin1 T C 6: 48,573,299 (GRCm39) F76S probably benign Het
Robo1 A G 16: 72,360,615 (GRCm39) D9G Het
Scn3a A G 2: 65,328,033 (GRCm39) L819P probably damaging Het
Scn7a A T 2: 66,574,172 (GRCm39) N150K possibly damaging Het
Sh2d3c T C 2: 32,615,023 (GRCm39) S38P probably benign Het
Sin3b A T 8: 73,474,362 (GRCm39) K549* probably null Het
Sorl1 A G 9: 42,003,630 (GRCm39) F222S possibly damaging Het
Spata31h1 T A 10: 82,130,973 (GRCm39) D679V probably benign Het
Tmem147 A T 7: 30,427,726 (GRCm39) probably null Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem179 C T 12: 112,477,177 (GRCm39) probably null Het
Tubg2 A T 11: 101,050,913 (GRCm39) I213F probably damaging Het
Zfhx3 T C 8: 109,673,441 (GRCm39) I1497T probably benign Het
Zfp128 A T 7: 12,624,039 (GRCm39) M136L probably benign Het
Zzz3 G A 3: 152,133,289 (GRCm39) A116T probably benign Het
Other mutations in Rab1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Rab1b APN 19 5,154,962 (GRCm39) unclassified probably benign
IGL03014:Rab1b UTSW 19 5,154,923 (GRCm39) missense probably benign 0.20
R0594:Rab1b UTSW 19 5,150,684 (GRCm39) unclassified probably benign
R0842:Rab1b UTSW 19 5,154,697 (GRCm39) missense probably damaging 0.99
R1163:Rab1b UTSW 19 5,154,684 (GRCm39) nonsense probably null
R1792:Rab1b UTSW 19 5,150,513 (GRCm39) missense probably benign 0.02
R7231:Rab1b UTSW 19 5,155,229 (GRCm39) missense probably damaging 0.98
R7895:Rab1b UTSW 19 5,150,524 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGCAAATTCCTGCGAAGGG -3'
(R):5'- CAATGACTGTAGGTGCAGGC -3'

Sequencing Primer
(F):5'- TTCCTGCGAAGGGAAGAAG -3'
(R):5'- GCAGGCACTACTCCACTCTG -3'
Posted On 2019-10-24