Incidental Mutation 'R2967:Rab1a'
ID 263298
Institutional Source Beutler Lab
Gene Symbol Rab1a
Ensembl Gene ENSMUSG00000020149
Gene Name RAB1A, member RAS oncogene family
Synonyms Rab-1, Ypt1, ras-related YPT1 protein, Gtbp, Rab1
MMRRC Submission 040523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R2967 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 20151432-20176856 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 20173068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000050611] [ENSMUST00000109601] [ENSMUST00000109602] [ENSMUST00000163483]
AlphaFold P62821
Predicted Effect probably null
Transcript: ENSMUST00000020358
SMART Domains Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
RAB 9 172 2.9e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050611
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
SPEC 605 706 1.28e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109601
SMART Domains Protein: ENSMUSP00000105230
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
Pfam:Ras 10 63 1.4e-18 PFAM
Pfam:Miro 10 93 8.4e-7 PFAM
Pfam:Ras 61 95 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109602
SMART Domains Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
Pfam:Ras 10 31 7.6e-6 PFAM
Pfam:Ras 29 107 8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152728
Predicted Effect probably null
Transcript: ENSMUST00000163483
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
RAB 12 175 2.9e-107 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,304,131 (GRCm39) S185G possibly damaging Het
Adgra1 G A 7: 139,455,601 (GRCm39) E410K possibly damaging Het
Aox1 A T 1: 58,361,993 (GRCm39) N733I probably damaging Het
Bola3 T A 6: 83,326,280 (GRCm39) Y24N probably benign Het
Cntn6 G A 6: 104,703,198 (GRCm39) V135I probably benign Het
Eif2s3y A T Y: 1,020,030 (GRCm39) M353L probably benign Het
Ercc8 C A 13: 108,297,248 (GRCm39) P53T probably damaging Het
Gan A G 8: 117,910,265 (GRCm39) K65E probably damaging Het
Gm1110 T C 9: 26,792,339 (GRCm39) E597G probably benign Het
Gsdmc4 T A 15: 63,773,909 (GRCm39) H81L probably benign Het
Hs2st1 T A 3: 144,170,899 (GRCm39) N91I probably damaging Het
Or1e31 A G 11: 73,689,933 (GRCm39) S217P possibly damaging Het
Or7a41 A T 10: 78,870,887 (GRCm39) I86F probably damaging Het
Pgr T C 9: 8,901,819 (GRCm39) S451P possibly damaging Het
Pira13 T A 7: 3,825,686 (GRCm39) R394S probably damaging Het
Pwp2 A G 10: 78,018,532 (GRCm39) L84S possibly damaging Het
Secisbp2 T C 13: 51,824,915 (GRCm39) S388P probably benign Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Sybu T C 15: 44,609,752 (GRCm39) K172R probably damaging Het
Topbp1 C T 9: 103,219,339 (GRCm39) A1197V probably benign Het
Ttf1 T A 2: 28,955,395 (GRCm39) V253D possibly damaging Het
Ugt2a2 A T 5: 87,622,488 (GRCm39) V160E probably damaging Het
Vmn1r81 G T 7: 11,993,964 (GRCm39) Q215K probably damaging Het
Zfp653 A G 9: 21,977,026 (GRCm39) L147P probably damaging Het
Other mutations in Rab1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Rab1a APN 11 20,174,727 (GRCm39) missense possibly damaging 0.92
IGL01639:Rab1a APN 11 20,173,185 (GRCm39) splice site probably benign
IGL01982:Rab1a APN 11 20,174,717 (GRCm39) missense probably benign 0.17
R0504:Rab1a UTSW 11 20,173,169 (GRCm39) missense probably damaging 0.99
R1167:Rab1a UTSW 11 20,173,172 (GRCm39) missense possibly damaging 0.93
R3703:Rab1a UTSW 11 20,174,506 (GRCm39) splice site probably benign
R5623:Rab1a UTSW 11 20,151,626 (GRCm39) utr 5 prime probably benign
R5897:Rab1a UTSW 11 20,168,867 (GRCm39) nonsense probably null
R7864:Rab1a UTSW 11 20,165,673 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTATTAGTACTACCTGCTAAACCGTAG -3'
(R):5'- TTTCAGGGCTGTTCAAAAGC -3'

Sequencing Primer
(F):5'- CGTAGGCATTATCTTCTCTTCTGG -3'
(R):5'- CTGACCACATAGTGAGTTCAGGTC -3'
Posted On 2015-02-05