Incidental Mutation 'R8715:Rab7'
ID 669815
Institutional Source Beutler Lab
Gene Symbol Rab7
Ensembl Gene ENSMUSG00000079477
Gene Name RAB7, member RAS oncogene family
Synonyms
MMRRC Submission 068613-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # R8715 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 87976088-88022252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87989369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 34 (S34G)
Ref Sequence ENSEMBL: ENSMUSP00000092658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095048] [ENSMUST00000113596] [ENSMUST00000113597] [ENSMUST00000113598] [ENSMUST00000113600] [ENSMUST00000203674] [ENSMUST00000204126]
AlphaFold P51150
Predicted Effect probably damaging
Transcript: ENSMUST00000095048
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113596
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113597
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113598
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113600
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203674
AA Change: S34G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
small_GTPase 6 87 3.5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204126
AA Change: S34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
AA Change: S34G

DomainStartEndE-ValueType
small_GTPase 6 99 6.6e-6 SMART
Meta Mutation Damage Score 0.1518 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted alleles exhibit abnormal endocytosis within the visceral endoderm, failure of elongation along the primitive streak and incomplete gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A T 5: 8,862,750 (GRCm39) H144L probably benign Het
Adam25 A G 8: 41,207,099 (GRCm39) N122D probably benign Het
Armc10 T C 5: 21,858,516 (GRCm39) F187S possibly damaging Het
Atosb A G 4: 43,033,944 (GRCm39) V444A possibly damaging Het
Best3 T A 10: 116,828,971 (GRCm39) F84I probably damaging Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccdc60 A T 5: 116,328,153 (GRCm39) F104I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cdhr4 G A 9: 107,874,596 (GRCm39) V9M Het
Cfap46 T C 7: 139,185,560 (GRCm39) T41A Het
Cyp2c66 A G 19: 39,159,388 (GRCm39) T280A probably benign Het
Dis3l C T 9: 64,214,342 (GRCm39) D1049N probably benign Het
Dlc1 T A 8: 37,405,795 (GRCm39) probably benign Het
Faap100 T C 11: 120,265,299 (GRCm39) T526A probably benign Het
Gimap6 A T 6: 48,679,552 (GRCm39) D161E probably damaging Het
Gmpr T C 13: 45,696,102 (GRCm39) V282A possibly damaging Het
Gsap A G 5: 21,431,245 (GRCm39) I190V possibly damaging Het
Gucy2d C T 7: 98,093,319 (GRCm39) T232I probably benign Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrp1 C A 10: 127,396,490 (GRCm39) S2358I possibly damaging Het
Lrrc74a A G 12: 86,805,239 (GRCm39) N354D probably damaging Het
Mdga2 T C 12: 66,915,526 (GRCm39) E112G probably damaging Het
Msh6 C T 17: 88,293,195 (GRCm39) T650I probably benign Het
Mst1 T C 9: 107,959,242 (GRCm39) V203A possibly damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Naa11 A G 5: 97,540,066 (GRCm39) Y31H probably damaging Het
Nphp1 G T 2: 127,605,729 (GRCm39) H365Q possibly damaging Het
Or1p4-ps1 T A 11: 74,207,986 (GRCm39) I45N probably damaging Het
Or2y17 A T 11: 49,232,154 (GRCm39) Y265F probably damaging Het
Or5m13 G A 2: 85,748,273 (GRCm39) M1I probably null Het
Osbpl9 A G 4: 108,959,773 (GRCm39) F15S probably benign Het
Pcdha12 A C 18: 37,153,523 (GRCm39) N81H probably damaging Het
Pde4d A G 13: 110,071,876 (GRCm39) Q290R probably benign Het
Pla1a A T 16: 38,230,000 (GRCm39) N237K probably damaging Het
Podnl1 T C 8: 84,855,956 (GRCm39) Y239H Het
Pou4f3 G T 18: 42,528,593 (GRCm39) D179Y possibly damaging Het
Ptch2 T C 4: 116,968,719 (GRCm39) V995A probably damaging Het
Ptprt C T 2: 161,372,463 (GRCm39) C1403Y probably damaging Het
Rspry1 A G 8: 95,349,888 (GRCm39) E92G probably damaging Het
Sdccag8 T A 1: 176,773,803 (GRCm39) probably benign Het
Sdk2 G A 11: 113,671,728 (GRCm39) T2140M probably damaging Het
Serpina1e T C 12: 103,917,177 (GRCm39) N164S probably benign Het
Shisal1 A C 15: 84,301,346 (GRCm39) V99G probably damaging Het
Tdrkh T C 3: 94,331,968 (GRCm39) V131A probably damaging Het
Tm9sf3 T A 19: 41,244,724 (GRCm39) N51I probably damaging Het
Trav4-3 A G 14: 53,836,762 (GRCm39) N76D possibly damaging Het
Trhr2 T A 8: 123,085,619 (GRCm39) I122F probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r99 A T 17: 19,613,922 (GRCm39) probably benign Het
Zfp663 T C 2: 165,194,644 (GRCm39) E525G probably damaging Het
Zfp976 C T 7: 42,262,869 (GRCm39) E324K possibly damaging Het
Other mutations in Rab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Rab7 UTSW 6 87,982,114 (GRCm39) missense probably damaging 0.98
R0242:Rab7 UTSW 6 87,982,114 (GRCm39) missense probably damaging 0.98
R1029:Rab7 UTSW 6 87,990,624 (GRCm39) missense probably damaging 1.00
R2025:Rab7 UTSW 6 87,981,161 (GRCm39) missense probably damaging 1.00
R2086:Rab7 UTSW 6 87,989,300 (GRCm39) missense probably benign 0.08
R2177:Rab7 UTSW 6 87,982,063 (GRCm39) missense probably damaging 1.00
R5047:Rab7 UTSW 6 87,982,205 (GRCm39) splice site probably null
R5564:Rab7 UTSW 6 87,990,632 (GRCm39) missense probably damaging 1.00
R7491:Rab7 UTSW 6 87,990,624 (GRCm39) missense probably damaging 1.00
R8263:Rab7 UTSW 6 87,989,292 (GRCm39) missense probably benign 0.01
R8513:Rab7 UTSW 6 87,981,250 (GRCm39) missense probably benign 0.26
R8714:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8716:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8717:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8980:Rab7 UTSW 6 87,977,502 (GRCm39) missense probably benign
R9642:Rab7 UTSW 6 87,981,187 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCACAGAAGCTTCATGACC -3'
(R):5'- ACAAAGCCGTTTGGAGTGATC -3'

Sequencing Primer
(F):5'- GAAGCTTCATGACCTGTGTTTAATCC -3'
(R):5'- TTGCAGTACCGGGAGTTAAACCC -3'
Posted On 2021-04-30