Incidental Mutation 'IGL01982:Rab1a'
ID 182774
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: 0.858) question?
Stock # IGL01982
Quality Score
Status
Chromosome 11
Chromosomal Location 20151432-20176856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20174717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000105231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000050611] [ENSMUST00000109601] [ENSMUST00000109602] [ENSMUST00000163483]
AlphaFold P62821
Predicted Effect probably benign
Transcript: ENSMUST00000020358
AA Change: S161P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149
AA Change: S161P

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
AA Change: S85P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000105230
Gene: ENSMUSG00000020149
AA Change: S85P

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
AA Change: S97P

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149
AA Change: S97P

DomainStartEndE-ValueType
Pfam:Ras 10 31 7.6e-6 PFAM
Pfam:Ras 29 107 8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152728
Predicted Effect probably benign
Transcript: ENSMUST00000163483
AA Change: S164P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149
AA Change: S164P

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Abca7 T G 10: 79,838,475 (GRCm39) L583R probably damaging Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Cers1 A G 8: 70,776,081 (GRCm39) D324G probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gjb6 C A 14: 57,362,030 (GRCm39) W77L probably damaging Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Phf8-ps T G 17: 33,285,289 (GRCm39) E504D probably benign Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Slco4a1 T C 2: 180,114,946 (GRCm39) V623A probably benign Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S probably benign 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
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 2014-05-07