Incidental Mutation 'R8513:Rab7'
ID 655977
Institutional Source Beutler Lab
Gene Symbol Rab7
Ensembl Gene ENSMUSG00000079477
Gene Name RAB7, member RAS oncogene family
Synonyms
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87976088-88022252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87981250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 144 (Y144C)
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 benign
Transcript: ENSMUST00000095048
AA Change: Y144C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: Y144C

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113596
AA Change: Y144C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: Y144C

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113597
AA Change: Y144C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: Y144C

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113598
AA Change: Y144C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: Y144C

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113600
AA Change: Y144C

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: Y144C

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203674
SMART Domains Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477

DomainStartEndE-ValueType
small_GTPase 6 87 3.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204126
SMART Domains Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477

DomainStartEndE-ValueType
small_GTPase 6 99 6.6e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Hepacam A G 9: 37,291,930 (GRCm39) E86G probably benign Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kiz A G 2: 146,712,684 (GRCm39) probably null Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Ntf5 A G 7: 45,065,179 (GRCm39) T104A probably damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem184b A T 15: 79,254,123 (GRCm39) S142T probably benign Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign 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
R8714:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8715: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'- TTTCCCAGATGCAGGTAGGG -3'
(R):5'- GGACAGAGGTAGCTGCAGTTTG -3'

Sequencing Primer
(F):5'- CAGGTAGGGGAGAGGCATCTAG -3'
(R):5'- AGCTGCAGTTTGGGTCCCTC -3'
Posted On 2020-10-20