Incidental Mutation 'IGL00540:Rab25'
ID13236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab25
Ensembl Gene ENSMUSG00000008601
Gene NameRAB25, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL00540
Quality Score
Status
Chromosome3
Chromosomal Location88542029-88548300 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88545239 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 21 (S21P)
Ref Sequence ENSEMBL: ENSMUSP00000008745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000131775] [ENSMUST00000172699]
Predicted Effect probably damaging
Transcript: ENSMUST00000008745
AA Change: S21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601
AA Change: S21P

DomainStartEndE-ValueType
RAB 13 176 2.1e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029698
SMART Domains Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Robl_LC7 7 95 2.65e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119002
SMART Domains Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Blast:Robl_LC7 1 22 2e-8 BLAST
PDB:3CPT|B 1 52 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000131775
SMART Domains Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601

DomainStartEndE-ValueType
RAB 3 122 6.15e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156421
Predicted Effect probably benign
Transcript: ENSMUST00000172699
SMART Domains Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
low complexity region 53 110 N/A INTRINSIC
KH 130 198 3.35e-9 SMART
KH 222 289 4.59e-16 SMART
low complexity region 406 415 N/A INTRINSIC
RING 469 508 1.39e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: On a 129 background, virgin female homozygotes older than 10 months of age develop vaginal cancer while both male and female homozygotes develop distal esophageal stricture due to squamous cell hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,684,977 I374T probably benign Het
Amph G T 13: 19,120,606 G398V probably damaging Het
C2cd3 T G 7: 100,391,128 S301R probably benign Het
Calr G A 8: 84,844,744 P178S possibly damaging Het
Cbll1 G T 12: 31,487,941 P271T probably damaging Het
Ccl7 A T 11: 82,047,062 D89V probably damaging Het
Cd82 T A 2: 93,420,659 I179F probably null Het
Cdh10 A T 15: 18,963,995 D81V probably damaging Het
Cenpo A G 12: 4,216,685 V141A probably benign Het
Dnah11 A G 12: 118,186,922 V367A probably benign Het
Fam161b T C 12: 84,361,751 probably benign Het
Gemin5 G A 11: 58,160,818 P268S probably damaging Het
Gm5965 T A 16: 88,778,340 C134S probably damaging Het
Icam4 C A 9: 21,030,086 R174S possibly damaging Het
Kdm5a T A 6: 120,385,719 probably null Het
Klhl10 A G 11: 100,445,418 K77R probably benign Het
Mrgprb1 A T 7: 48,447,543 V207E probably damaging Het
Myh10 A G 11: 68,790,708 N1067S probably benign Het
Myo1b T C 1: 51,763,954 E856G possibly damaging Het
Nbea T C 3: 55,628,493 Y2890C probably damaging Het
Pcdhb16 T C 18: 37,479,798 S604P probably damaging Het
Pelp1 A T 11: 70,394,812 D743E possibly damaging Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Ssr1 T C 13: 37,983,431 D252G probably damaging Het
Stx1b T C 7: 127,810,698 E19G probably damaging Het
Tbc1d23 T A 16: 57,171,776 E607V probably damaging Het
Tchhl1 A G 3: 93,470,923 I311M probably benign Het
Trpm6 C T 19: 18,783,908 probably benign Het
Other mutations in Rab25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02444:Rab25 APN 3 88542713 missense probably benign 0.24
IGL03098:Rab25 UTSW 3 88542260 missense probably damaging 1.00
R0165:Rab25 UTSW 3 88548055 missense probably benign 0.00
R1980:Rab25 UTSW 3 88543458 missense probably damaging 0.97
R5175:Rab25 UTSW 3 88543421 missense possibly damaging 0.95
R6612:Rab25 UTSW 3 88543403 missense probably damaging 0.99
R7688:Rab25 UTSW 3 88544963 splice site probably null
Posted On2012-12-06