Incidental Mutation 'R1167:Rab1a'
ID 101163
Institutional Source Beutler Lab
Gene Symbol Rab1a
Ensembl Gene ENSMUSG00000020149
Gene Name RAB1A, member RAS oncogene family
Synonyms Ypt1, Rab1, Rab-1, Gtbp, ras-related YPT1 protein
MMRRC Submission 039240-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R1167 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 20201432-20226856 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20223172 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 91 (T91K)
Ref Sequence ENSEMBL: ENSMUSP00000020358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000050611] [ENSMUST00000109601] [ENSMUST00000109602] [ENSMUST00000163483]
AlphaFold P62821
Predicted Effect possibly damaging
Transcript: ENSMUST00000020358
AA Change: T91K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149
AA Change: T91K

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 possibly damaging
Transcript: ENSMUST00000163483
AA Change: T94K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149
AA Change: T94K

DomainStartEndE-ValueType
RAB 12 175 2.9e-107 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,993,579 (GRCm38) D315V probably damaging Het
4931440F15Rik C T 11: 29,823,567 (GRCm38) R630H probably damaging Het
Acr T C 15: 89,573,974 (GRCm38) I286T probably damaging Het
Adnp A G 2: 168,184,500 (GRCm38) S292P probably benign Het
Apol6 T A 15: 77,047,108 (GRCm38) Y17* probably null Het
Arhgap22 A G 14: 33,343,307 (GRCm38) probably null Het
Bfar A G 16: 13,698,894 (GRCm38) K202E possibly damaging Het
Bmpr2 A T 1: 59,859,304 (GRCm38) S470C probably damaging Het
Cep135 A G 5: 76,624,637 (GRCm38) E623G probably damaging Het
Clcn3 A G 8: 60,922,788 (GRCm38) probably null Het
Clptm1 A T 7: 19,634,211 (GRCm38) M523K probably damaging Het
Cyp26b1 A G 6: 84,584,330 (GRCm38) W117R probably damaging Het
Dnmt3c T G 2: 153,711,781 (GRCm38) probably null Het
Dst A G 1: 34,223,858 (GRCm38) E2212G probably damaging Het
Edrf1 A G 7: 133,644,066 (GRCm38) T238A probably benign Het
Elmo1 T C 13: 20,185,455 (GRCm38) V10A probably damaging Het
Ermp1 A G 19: 29,628,679 (GRCm38) S225P possibly damaging Het
Fes A T 7: 80,383,109 (GRCm38) L296Q probably damaging Het
Foxn1 A T 11: 78,359,066 (GRCm38) N544K probably damaging Het
Gga1 C G 15: 78,888,170 (GRCm38) N223K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 (GRCm38) probably null Het
Gm4884 A T 7: 41,043,912 (GRCm38) Q435L possibly damaging Het
Gm8444 T C 15: 81,843,380 (GRCm38) probably benign Het
Gm8882 G A 6: 132,361,590 (GRCm38) P222S unknown Het
Ift140 T G 17: 25,035,745 (GRCm38) S131A probably benign Het
Ipo4 A G 14: 55,635,020 (GRCm38) L88P probably damaging Het
Itgal G A 7: 127,300,939 (GRCm38) S123N probably damaging Het
Kcnn3 C T 3: 89,564,952 (GRCm38) Q344* probably null Het
Lrrc8e A T 8: 4,235,337 (GRCm38) M521L probably benign Het
Myocd G T 11: 65,196,377 (GRCm38) D113E possibly damaging Het
Nek4 G A 14: 30,974,345 (GRCm38) R499H possibly damaging Het
Notch3 T C 17: 32,122,745 (GRCm38) D2011G possibly damaging Het
Ola1 A G 2: 73,097,194 (GRCm38) V347A probably damaging Het
Olfr1037 A G 2: 86,085,291 (GRCm38) V162A probably benign Het
Olfr1339 C A 4: 118,734,632 (GRCm38) F34L possibly damaging Het
Olfr790 G A 10: 129,501,150 (GRCm38) V89I probably benign Het
Oxct2b A G 4: 123,117,585 (GRCm38) T433A probably damaging Het
P2ry14 T C 3: 59,115,131 (GRCm38) R312G probably damaging Het
Pbrm1 A G 14: 31,050,142 (GRCm38) N398D probably damaging Het
Pdc T C 1: 150,333,245 (GRCm38) Y160H probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pop4 A T 7: 38,263,269 (GRCm38) D190E probably benign Het
R3hdm4 A G 10: 79,912,073 (GRCm38) probably null Het
Rad9a A G 19: 4,197,502 (GRCm38) V215A possibly damaging Het
Rassf3 A G 10: 121,416,254 (GRCm38) V84A probably damaging Het
Rftn2 G A 1: 55,204,299 (GRCm38) T270M probably damaging Het
Rho A G 6: 115,935,423 (GRCm38) T100A probably damaging Het
Rnft2 T C 5: 118,228,882 (GRCm38) I264V possibly damaging Het
Robo3 A T 9: 37,423,907 (GRCm38) Y567* probably null Het
Rpp14 T A 14: 8,083,705 (GRCm38) probably null Het
Rtkn2 T C 10: 67,997,620 (GRCm38) S98P probably damaging Het
Ryr2 A G 13: 11,660,113 (GRCm38) V3376A possibly damaging Het
Sbf2 A T 7: 110,364,549 (GRCm38) W1030R probably damaging Het
Setbp1 G A 18: 78,857,236 (GRCm38) A1072V possibly damaging Het
Slc4a10 A G 2: 62,228,574 (GRCm38) K142E probably damaging Het
Slc52a2 A G 15: 76,539,591 (GRCm38) E40G probably benign Het
Slc8a2 A G 7: 16,157,387 (GRCm38) N784S possibly damaging Het
Spats2l A T 1: 57,943,111 (GRCm38) Q384L probably damaging Het
Steap4 A C 5: 7,976,520 (GRCm38) K161T probably benign Het
Taf10 T C 7: 105,743,231 (GRCm38) S188G probably benign Het
Tbc1d4 C T 14: 101,608,019 (GRCm38) D148N probably damaging Het
Tenm2 T G 11: 36,864,684 (GRCm38) K162N probably benign Het
Tmem147 A G 7: 30,727,796 (GRCm38) V146A probably benign Het
Tnfsf8 A G 4: 63,837,086 (GRCm38) S100P possibly damaging Het
Trim56 T C 5: 137,112,520 (GRCm38) Y714C probably damaging Het
Ubxn8 A G 8: 33,641,901 (GRCm38) S13P probably damaging Het
Usp49 A G 17: 47,672,226 (GRCm38) D52G possibly damaging Het
Vegfc A C 8: 54,186,043 (GRCm38) Y408S probably benign Het
Vmn2r77 A G 7: 86,801,746 (GRCm38) N280S probably benign Het
Vmn2r8 T A 5: 108,803,176 (GRCm38) L134F probably benign Het
Wdfy3 T A 5: 101,875,931 (GRCm38) I2437F probably benign Het
Wwc2 A T 8: 47,858,779 (GRCm38) L783* probably null Het
Zer1 C T 2: 30,108,246 (GRCm38) R351H probably benign Het
Zfp715 A T 7: 43,298,437 (GRCm38) F700I possibly damaging Het
Zfp995 G A 17: 21,879,979 (GRCm38) H425Y probably damaging Het
Other mutations in Rab1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Rab1a APN 11 20,224,727 (GRCm38) missense possibly damaging 0.92
IGL01639:Rab1a APN 11 20,223,185 (GRCm38) splice site probably benign
IGL01982:Rab1a APN 11 20,224,717 (GRCm38) missense probably benign 0.17
R0504:Rab1a UTSW 11 20,223,169 (GRCm38) missense probably damaging 0.99
R2967:Rab1a UTSW 11 20,223,068 (GRCm38) splice site probably null
R3703:Rab1a UTSW 11 20,224,506 (GRCm38) splice site probably benign
R5623:Rab1a UTSW 11 20,201,626 (GRCm38) utr 5 prime probably benign
R5897:Rab1a UTSW 11 20,218,867 (GRCm38) nonsense probably null
R7864:Rab1a UTSW 11 20,215,673 (GRCm38) nonsense probably null
Predicted Primers
Posted On 2014-01-15