Incidental Mutation 'IGL02444:Rab25'
ID293514
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: 0.088) question?
Stock #IGL02444
Quality Score
Status
Chromosome3
Chromosomal Location88542029-88548300 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88542713 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 114 (T114A)
Ref Sequence ENSEMBL: ENSMUSP00000120505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000131775] [ENSMUST00000172699]
Predicted Effect probably benign
Transcript: ENSMUST00000008745
AA Change: T168A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601
AA Change: T168A

DomainStartEndE-ValueType
RAB 13 176 2.1e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131775
AA Change: T114A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601
AA Change: T114A

DomainStartEndE-ValueType
RAB 3 122 6.15e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149724
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,673 I260T possibly damaging Het
Arhgap9 T A 10: 127,327,947 V484D probably damaging Het
Asph A G 4: 9,542,319 probably benign Het
Bbs9 T C 9: 22,643,787 S457P probably damaging Het
Bckdk A G 7: 127,907,446 T38A probably damaging Het
Cast G A 13: 74,739,853 T240I probably damaging Het
Cdc27 T C 11: 104,522,716 probably benign Het
Cdon T C 9: 35,473,448 S677P probably benign Het
Cfap161 T C 7: 83,776,145 E246G probably damaging Het
Dnah11 G A 12: 117,975,873 probably benign Het
Dnm3 C T 1: 162,010,875 V835I possibly damaging Het
Eif3a T C 19: 60,773,607 H510R possibly damaging Het
Fbxw2 G T 2: 34,805,781 T367K probably benign Het
Ghsr T C 3: 27,372,040 S82P probably benign Het
Gm4353 C T 7: 116,083,444 V301I probably benign Het
Golgb1 T C 16: 36,907,816 probably benign Het
Gria2 T A 3: 80,702,553 M650L possibly damaging Het
Herc4 T C 10: 63,306,433 V671A probably benign Het
Iqcb1 T A 16: 36,831,911 Y61* probably null Het
Irs2 C T 8: 11,006,306 G709S probably benign Het
Itpripl1 T G 2: 127,141,701 H167P possibly damaging Het
Kcnn3 T C 3: 89,652,052 V543A possibly damaging Het
Klf10 T A 15: 38,297,824 K43M probably damaging Het
Lcor C T 19: 41,559,011 R345C probably damaging Het
Lmntd2 A G 7: 141,211,919 S304P probably damaging Het
Lpar3 T C 3: 146,241,194 I209T probably damaging Het
Map3k13 T A 16: 21,914,232 M528K probably benign Het
Me1 A T 9: 86,582,914 probably benign Het
Nedd4l T G 18: 65,203,957 probably benign Het
Oas1d T A 5: 120,920,008 F338L probably benign Het
Olfr15 T C 16: 3,839,687 F238S probably damaging Het
Olfr362 G T 2: 37,104,774 P292Q probably damaging Het
Pcdhb5 T C 18: 37,321,050 V161A probably benign Het
Prdx3 A T 19: 60,871,461 F91L possibly damaging Het
Rasal2 T C 1: 157,299,195 E73G probably benign Het
Slco4c1 A G 1: 96,844,509 S252P probably damaging Het
Srgap2 A C 1: 131,325,153 probably null Het
Synpo A G 18: 60,602,430 S576P probably damaging Het
Tktl2 G T 8: 66,513,361 A524S possibly damaging Het
Tln2 A T 9: 67,258,592 probably benign Het
Tmem52 G A 4: 155,470,393 D158N probably damaging Het
Tyw3 T A 3: 154,596,989 Q36L probably damaging Het
Usp10 A T 8: 119,948,693 I483F possibly damaging Het
Usp31 A G 7: 121,679,495 Y216H probably damaging Het
Vmn1r181 T C 7: 23,984,523 S138P probably damaging Het
Vmn2r42 G T 7: 8,184,313 A770E probably damaging Het
Zfp292 A C 4: 34,808,810 S1411R possibly damaging Het
Other mutations in Rab25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Rab25 APN 3 88545239 missense probably damaging 1.00
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 On2015-04-16