Incidental Mutation 'R7864:Rab1a'
ID 607729
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 045917-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.809) question?
Stock # R7864 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 20151432-20176856 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 20165673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 23 (G23*)
Ref Sequence ENSEMBL: ENSMUSP00000127330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000109601] [ENSMUST00000109602] [ENSMUST00000163483]
AlphaFold P62821
Predicted Effect probably null
Transcript: ENSMUST00000020358
AA Change: G20*
SMART Domains Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149
AA Change: G20*

DomainStartEndE-ValueType
RAB 9 172 2.9e-107 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109601
AA Change: G20*
SMART Domains Protein: ENSMUSP00000105230
Gene: ENSMUSG00000020149
AA Change: G20*

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 null
Transcript: ENSMUST00000109602
AA Change: G20*
SMART Domains Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149
AA Change: G20*

DomainStartEndE-ValueType
Pfam:Ras 10 31 7.6e-6 PFAM
Pfam:Ras 29 107 8e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163483
AA Change: G23*
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149
AA Change: G23*

DomainStartEndE-ValueType
RAB 12 175 2.9e-107 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,034,796 (GRCm39) R41W probably benign Het
Adam32 T A 8: 25,412,292 (GRCm39) H88L probably benign Het
Ank1 A G 8: 23,577,976 (GRCm39) T238A probably damaging Het
Arid1b T C 17: 5,392,530 (GRCm39) L1967P probably damaging Het
Bbx G T 16: 50,082,797 (GRCm39) H216Q probably damaging Het
C030005K15Rik G A 10: 97,561,614 (GRCm39) T39M probably damaging Het
C1s2 A G 6: 124,602,246 (GRCm39) V655A probably benign Het
Carmil2 A G 8: 106,414,906 (GRCm39) Y184C probably damaging Het
Ces1f G A 8: 94,000,769 (GRCm39) A125V possibly damaging Het
Chaf1a C T 17: 56,354,339 (GRCm39) T203I unknown Het
Cntn5 A G 9: 9,984,182 (GRCm39) S144P probably damaging Het
Cpa5 A T 6: 30,631,394 (GRCm39) Y436F probably damaging Het
Dbf4 A T 5: 8,460,010 (GRCm39) H150Q possibly damaging Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dock8 A T 19: 25,140,864 (GRCm39) D1360V possibly damaging Het
Ecm1 A T 3: 95,641,689 (GRCm39) I515N probably benign Het
Fancc A T 13: 63,548,073 (GRCm39) C75* probably null Het
Foxa1 A T 12: 57,589,533 (GRCm39) V229D probably damaging Het
Gga1 T C 15: 78,772,444 (GRCm39) M248T probably damaging Het
Gm1527 A G 3: 28,980,619 (GRCm39) Q573R probably benign Het
Hivep1 A C 13: 42,312,290 (GRCm39) H1510P probably benign Het
Htr1f A C 16: 64,747,157 (GRCm39) I45S probably damaging Het
Itsn1 T C 16: 91,598,454 (GRCm39) V129A possibly damaging Het
Klrg2 G T 6: 38,605,024 (GRCm39) Q347K possibly damaging Het
Lama2 G A 10: 26,932,611 (GRCm39) T1996I probably benign Het
Man1a C A 10: 53,906,843 (GRCm39) L219F possibly damaging Het
Mcub A G 3: 129,712,272 (GRCm39) I201T probably damaging Het
Or10q1 A G 19: 13,726,710 (GRCm39) D80G probably benign Het
Otogl A G 10: 107,705,428 (GRCm39) L633P probably damaging Het
Pate9 A T 9: 36,445,747 (GRCm39) F68Y probably benign Het
Pik3ca T A 3: 32,497,762 (GRCm39) L429* probably null Het
Pkhd1l1 T C 15: 44,389,449 (GRCm39) probably null Het
Pld4 C A 12: 112,731,557 (GRCm39) Q237K probably damaging Het
Plekhm2 T C 4: 141,355,357 (GRCm39) E897G probably damaging Het
Pomt2 A G 12: 87,169,656 (GRCm39) F475L probably benign Het
Popdc3 G A 10: 45,191,278 (GRCm39) A130T probably benign Het
Prss54 T C 8: 96,286,297 (GRCm39) K259E probably benign Het
Psg23 T G 7: 18,344,435 (GRCm39) N340T possibly damaging Het
Rgs9 A T 11: 109,166,446 (GRCm39) F108Y probably damaging Het
Scn9a T A 2: 66,314,904 (GRCm39) T1605S possibly damaging Het
Sh2d4b G A 14: 40,562,208 (GRCm39) T319I probably damaging Het
Slc28a3 A T 13: 58,726,217 (GRCm39) probably null Het
Syngap1 A T 17: 27,189,502 (GRCm39) Q1286L Het
Tmem132d G A 5: 127,860,980 (GRCm39) T1047I probably damaging Het
Togaram2 G A 17: 72,007,935 (GRCm39) R420H probably damaging Het
Uimc1 G A 13: 55,241,080 (GRCm39) R3* probably null Het
Vmn2r7 C T 3: 64,598,947 (GRCm39) V537I probably benign Het
Wwp1 T A 4: 19,635,328 (GRCm39) K584N probably damaging Het
Zc3h12d A T 10: 7,715,723 (GRCm39) Q42L possibly damaging Het
Zfp729a A T 13: 67,769,569 (GRCm39) V220E probably benign Het
Zfp91 A G 19: 12,748,403 (GRCm39) V391A 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
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
Predicted Primers PCR Primer
(F):5'- ACTTGCGTGAGTCACATGTTC -3'
(R):5'- ATTTGGGAGCACTTAGGCAC -3'

Sequencing Primer
(F):5'- AGTCACATGTTCAGCTGTGTATC -3'
(R):5'- GGCACTTTGATATATAAACTCTGA -3'
Posted On 2019-12-20