Incidental Mutation 'R5175:Rab25'
ID 399105
Institutional Source Beutler Lab
Gene Symbol Rab25
Ensembl Gene ENSMUSG00000008601
Gene Name RAB25, member RAS oncogene family
Synonyms
MMRRC Submission 042755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5175 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88449335-88455586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88450728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 57 (Y57F)
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: Y111F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601
AA Change: Y111F

DomainStartEndE-ValueType
RAB 13 176 2.1e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131775
AA Change: Y57F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601
AA Change: Y57F

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr2 A C 11: 20,030,114 (GRCm39) M215R probably benign Het
Ago2 A T 15: 72,996,067 (GRCm39) I354K possibly damaging Het
Angel2 T A 1: 190,673,081 (GRCm39) C72* probably null Het
Ank2 T A 3: 126,797,673 (GRCm39) H679L probably damaging Het
Anks1 A T 17: 28,261,562 (GRCm39) Q694L probably damaging Het
Aox3 C T 1: 58,211,487 (GRCm39) P1015S probably benign Het
Arhgap35 C A 7: 16,296,524 (GRCm39) R847L probably damaging Het
Bag4 C A 8: 26,258,379 (GRCm39) C316F probably damaging Het
Camkv T A 9: 107,824,581 (GRCm39) I258N probably damaging Het
Cpt1c G A 7: 44,620,781 (GRCm39) A28V probably damaging Het
Cyp2j13 A T 4: 95,956,452 (GRCm39) M219K possibly damaging Het
Dclk1 G T 3: 55,154,648 (GRCm39) R26L possibly damaging Het
Diras2 A T 13: 52,662,007 (GRCm39) I100N probably damaging Het
Dnah5 T A 15: 28,448,550 (GRCm39) N4204K probably damaging Het
Dnase1l3 T A 14: 7,987,386 (GRCm38) K55* probably null Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Eif5b A G 1: 38,084,468 (GRCm39) T819A probably damaging Het
Elfn2 A T 15: 78,558,073 (GRCm39) L158H probably damaging Het
Erp44 T C 4: 48,196,823 (GRCm39) T367A probably benign Het
Fasn A T 11: 120,707,195 (GRCm39) D843E probably benign Het
Fbxw25 T C 9: 109,493,631 (GRCm39) Y20C probably damaging Het
Fer1l6 G A 15: 58,422,126 (GRCm39) G108E probably damaging Het
Fndc7 C T 3: 108,776,482 (GRCm39) V520I probably benign Het
Gm17019 A G 5: 15,082,817 (GRCm39) W46R possibly damaging Het
Gorab G T 1: 163,214,214 (GRCm39) Q239K probably damaging Het
Gsdma2 A G 11: 98,543,438 (GRCm39) T76A probably benign Het
Hnrnpll A C 17: 80,341,499 (GRCm39) C513W possibly damaging Het
Ifrd2 T C 9: 107,467,824 (GRCm39) L170P probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 A G 14: 23,386,106 (GRCm39) probably null Het
Kcnn3 T C 3: 89,516,746 (GRCm39) F385S probably damaging Het
Kif18a T G 2: 109,133,323 (GRCm39) probably null Het
Llgl2 A G 11: 115,741,547 (GRCm39) K559R probably damaging Het
Lrrc8a T C 2: 30,145,524 (GRCm39) C113R probably damaging Het
Mgat5 A G 1: 127,387,649 (GRCm39) N535S probably damaging Het
Myh15 T G 16: 48,889,789 (GRCm39) W127G possibly damaging Het
Npsr1 A G 9: 24,046,111 (GRCm39) R77G probably benign Het
Nub1 T A 5: 24,907,446 (GRCm39) S376R probably benign Het
Or14c44 T C 7: 86,062,254 (GRCm39) V228A probably benign Het
Or4d10c G A 19: 12,065,926 (GRCm39) P77S probably damaging Het
Or4k47 A T 2: 111,451,771 (GRCm39) I216N possibly damaging Het
Or5al6 T C 2: 85,976,301 (GRCm39) Y259C probably damaging Het
Or9i2 G A 19: 13,815,680 (GRCm39) P286S probably damaging Het
Pcdh9 A G 14: 94,125,879 (GRCm39) L97P probably damaging Het
Pkn2 A G 3: 142,504,684 (GRCm39) Y831H probably damaging Het
Plcz1 T G 6: 139,985,389 (GRCm39) I51L possibly damaging Het
Plekhg1 T C 10: 3,915,516 (GRCm39) probably benign Het
Prdm9 A T 17: 15,777,713 (GRCm39) S124T probably benign Het
Prkag1 A C 15: 98,713,596 (GRCm39) V33G possibly damaging Het
Rb1cc1 A G 1: 6,318,545 (GRCm39) I638V probably benign Het
Rest C A 5: 77,416,219 (GRCm39) D144E probably damaging Het
Rpa2 A G 4: 132,505,151 (GRCm39) D260G probably damaging Het
Sf3b3 A G 8: 111,560,467 (GRCm39) V425A probably benign Het
Sidt2 A T 9: 45,863,086 (GRCm39) M15K probably damaging Het
Slc22a17 A G 14: 55,144,748 (GRCm39) L555P probably damaging Het
Smoc2 A G 17: 14,595,719 (GRCm39) D282G possibly damaging Het
Sorcs3 G A 19: 48,748,284 (GRCm39) probably null Het
Spmap2l C T 5: 77,164,317 (GRCm39) P107S probably benign Het
Srcin1 A G 11: 97,464,703 (GRCm39) W15R probably damaging Het
Stra6l A G 4: 45,870,860 (GRCm39) T259A probably benign Het
Ube3a T C 7: 58,938,465 (GRCm39) F741S probably damaging Het
Vasp C A 7: 18,998,594 (GRCm39) M54I probably benign Het
Vmn1r174 A T 7: 23,454,153 (GRCm39) H273L probably benign Het
Vmn2r50 T A 7: 9,771,644 (GRCm39) I686F probably damaging Het
Vmn2r76 T C 7: 85,877,915 (GRCm39) E494G probably benign Het
Zfp788 A G 7: 41,298,753 (GRCm39) E443G probably damaging Het
Other mutations in Rab25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Rab25 APN 3 88,452,546 (GRCm39) missense probably damaging 1.00
IGL02444:Rab25 APN 3 88,450,020 (GRCm39) missense probably benign 0.24
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
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
Predicted Primers PCR Primer
(F):5'- ACACATGGGTTCCCAAAGG -3'
(R):5'- CAGGCATTTAGCTTGGTGAC -3'

Sequencing Primer
(F):5'- CATGAGGGAAGACAGACCATCC -3'
(R):5'- CATTTAGCTTGGTGACTGTGCTCC -3'
Posted On 2016-07-06