Incidental Mutation 'IGL01639:Rab1a'
ID 92943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab1a
Ensembl Gene ENSMUSG00000020149
Gene Name RAB1A, member RAS oncogene family
Synonyms Rab-1, Ypt1, ras-related YPT1 protein, Gtbp, Rab1
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # IGL01639
Quality Score
Status
Chromosome 11
Chromosomal Location 20151432-20176856 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20173185 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 benign
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 benign
Transcript: ENSMUST00000163483
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
RAB 12 175 2.9e-107 SMART
Coding Region Coverage
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
Calm4 T A 13: 3,888,302 (GRCm39) V136E probably damaging Het
Cnot8 A T 11: 58,002,188 (GRCm39) I74F probably damaging Het
Coq7 A T 7: 118,124,527 (GRCm39) V213D probably damaging Het
Itgae A G 11: 73,010,204 (GRCm39) T565A probably benign Het
Lgi3 A G 14: 70,770,825 (GRCm39) I155V probably benign Het
Mbd5 A G 2: 49,162,320 (GRCm39) N42S probably damaging Het
Nherf4 T A 9: 44,159,976 (GRCm39) E381D probably benign Het
Or13a22 A G 7: 140,073,099 (GRCm39) I183V probably benign Het
Or2l13 T C 16: 19,305,914 (GRCm39) S109P probably damaging Het
Pals2 T C 6: 50,155,460 (GRCm39) I261T probably damaging Het
Pcnx1 T C 12: 81,997,094 (GRCm39) probably null Het
Plekhg1 A G 10: 3,906,751 (GRCm39) E556G probably damaging Het
Rfx6 A T 10: 51,592,002 (GRCm39) R133* probably null Het
Spata31d1c T C 13: 65,183,903 (GRCm39) S482P probably damaging Het
Spire1 C A 18: 67,678,738 (GRCm39) A68S possibly damaging Het
Tmc1 G A 19: 20,793,556 (GRCm39) T535M probably damaging Het
Trip10 T A 17: 57,561,165 (GRCm39) probably benign Het
Trp53bp1 A C 2: 121,033,173 (GRCm39) V1711G possibly damaging Het
Ubr4 G T 4: 139,144,655 (GRCm39) R1488L probably damaging Het
Vmn2r84 A T 10: 130,225,141 (GRCm39) Y456* probably null Het
Zc3h7a T C 16: 10,959,572 (GRCm39) S794G possibly damaging Het
Zeb2 C T 2: 44,887,269 (GRCm39) S581N probably benign Het
Zfp292 G A 4: 34,809,048 (GRCm39) P1332L probably benign Het
Zfp641 A G 15: 98,189,066 (GRCm39) I131T possibly damaging Het
Other mutations in Rab1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Rab1a APN 11 20,174,727 (GRCm39) missense possibly damaging 0.92
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
R2967:Rab1a UTSW 11 20,173,068 (GRCm39) splice site probably null
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
Posted On 2013-12-09