Incidental Mutation 'IGL02444:Rab25'
ID 293514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab25
Ensembl Gene ENSMUSG00000008601
Gene Name RAB25, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02444
Quality Score
Status
Chromosome 3
Chromosomal Location 88449335-88455586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88450020 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WTL2
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: 44,022,710 (GRCm39) I260T possibly damaging Het
Arhgap9 T A 10: 127,163,816 (GRCm39) V484D probably damaging Het
Asph A G 4: 9,542,319 (GRCm39) probably benign Het
Bbs9 T C 9: 22,555,083 (GRCm39) S457P probably damaging Het
Bckdk A G 7: 127,506,618 (GRCm39) T38A probably damaging Het
Cast G A 13: 74,887,972 (GRCm39) T240I probably damaging Het
Cdc27 T C 11: 104,413,542 (GRCm39) probably benign Het
Cdon T C 9: 35,384,744 (GRCm39) S677P probably benign Het
Cfap161 T C 7: 83,425,353 (GRCm39) E246G probably damaging Het
Dnah11 G A 12: 117,939,608 (GRCm39) probably benign Het
Dnm3 C T 1: 161,838,444 (GRCm39) V835I possibly damaging Het
Eif3a T C 19: 60,762,045 (GRCm39) H510R possibly damaging Het
Fbxw2 G T 2: 34,695,793 (GRCm39) T367K probably benign Het
Ghsr T C 3: 27,426,189 (GRCm39) S82P probably benign Het
Gm4353 C T 7: 115,682,679 (GRCm39) V301I probably benign Het
Golgb1 T C 16: 36,728,178 (GRCm39) probably benign Het
Gria2 T A 3: 80,609,860 (GRCm39) M650L possibly damaging Het
Herc4 T C 10: 63,142,212 (GRCm39) V671A probably benign Het
Iqcb1 T A 16: 36,652,273 (GRCm39) Y61* probably null Het
Irs2 C T 8: 11,056,306 (GRCm39) G709S probably benign Het
Itpripl1 T G 2: 126,983,621 (GRCm39) H167P possibly damaging Het
Kcnn3 T C 3: 89,559,359 (GRCm39) V543A possibly damaging Het
Klf10 T A 15: 38,298,068 (GRCm39) K43M probably damaging Het
Lcor C T 19: 41,547,450 (GRCm39) R345C probably damaging Het
Lmntd2 A G 7: 140,791,832 (GRCm39) S304P probably damaging Het
Lpar3 T C 3: 145,946,949 (GRCm39) I209T probably damaging Het
Map3k13 T A 16: 21,732,982 (GRCm39) M528K probably benign Het
Me1 A T 9: 86,464,967 (GRCm39) probably benign Het
Nedd4l T G 18: 65,337,028 (GRCm39) probably benign Het
Oas1d T A 5: 121,058,071 (GRCm39) F338L probably benign Het
Or1b1 G T 2: 36,994,786 (GRCm39) P292Q probably damaging Het
Or2c1 T C 16: 3,657,551 (GRCm39) F238S probably damaging Het
Pcdhb5 T C 18: 37,454,103 (GRCm39) V161A probably benign Het
Prdx3 A T 19: 60,859,899 (GRCm39) F91L possibly damaging Het
Rasal2 T C 1: 157,126,765 (GRCm39) E73G probably benign Het
Slco4c1 A G 1: 96,772,234 (GRCm39) S252P probably damaging Het
Srgap2 A C 1: 131,252,891 (GRCm39) probably null Het
Synpo A G 18: 60,735,502 (GRCm39) S576P probably damaging Het
Tktl2 G T 8: 66,966,013 (GRCm39) A524S possibly damaging Het
Tln2 A T 9: 67,165,874 (GRCm39) probably benign Het
Tmem52 G A 4: 155,554,850 (GRCm39) D158N probably damaging Het
Tyw3 T A 3: 154,302,626 (GRCm39) Q36L probably damaging Het
Usp10 A T 8: 120,675,432 (GRCm39) I483F possibly damaging Het
Usp31 A G 7: 121,278,718 (GRCm39) Y216H probably damaging Het
Vmn1r181 T C 7: 23,683,948 (GRCm39) S138P probably damaging Het
Vmn2r42 G T 7: 8,187,312 (GRCm39) A770E probably damaging Het
Zfp292 A C 4: 34,808,810 (GRCm39) S1411R possibly damaging Het
Other mutations in Rab25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Rab25 APN 3 88,452,546 (GRCm39) missense probably damaging 1.00
IGL03098:Rab25 UTSW 3 88,449,567 (GRCm39) missense probably damaging 1.00
R0165:Rab25 UTSW 3 88,455,362 (GRCm39) missense probably benign 0.00
R1980:Rab25 UTSW 3 88,450,765 (GRCm39) missense probably damaging 0.97
R5175:Rab25 UTSW 3 88,450,728 (GRCm39) missense possibly damaging 0.95
R6612:Rab25 UTSW 3 88,450,710 (GRCm39) missense probably damaging 0.99
R7688:Rab25 UTSW 3 88,452,270 (GRCm39) splice site probably null
R8690:Rab25 UTSW 3 88,452,388 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16