Incidental Mutation 'R5564:Rab7'
ID 436740
Institutional Source Beutler Lab
Gene Symbol Rab7
Ensembl Gene ENSMUSG00000079477
Gene Name RAB7, member RAS oncogene family
Synonyms
MMRRC Submission 043121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R5564 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87976088-88022252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87990632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 14 (L14Q)
Ref Sequence ENSEMBL: ENSMUSP00000145097 (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: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113596
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113597
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113598
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113600
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203674
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
small_GTPase 6 87 3.5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204126
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
AA Change: L14Q

DomainStartEndE-ValueType
small_GTPase 6 99 6.6e-6 SMART
Meta Mutation Damage Score 0.8881 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (57/58)
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
Aadacl2fm2 T C 3: 59,659,513 (GRCm39) V322A probably benign Het
Abca8b G T 11: 109,825,407 (GRCm39) L1598M probably benign Het
Adam4 T C 12: 81,466,348 (GRCm39) T758A probably benign Het
B3galnt2 T C 13: 14,169,814 (GRCm39) I424T probably damaging Het
Cacna1g T C 11: 94,321,312 (GRCm39) Y1316C probably damaging Het
Cacna2d1 T C 5: 16,517,517 (GRCm39) S388P probably damaging Het
Ccdc157 A G 11: 4,098,765 (GRCm39) L247S probably damaging Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cdhr3 G T 12: 33,098,985 (GRCm39) Y535* probably null Het
Clasp2 T C 9: 113,641,836 (GRCm39) probably null Het
Col16a1 T A 4: 129,947,151 (GRCm39) D165E probably damaging Het
Col9a1 A T 1: 24,234,436 (GRCm39) probably benign Het
Cpa3 A T 3: 20,296,307 (GRCm39) I10N possibly damaging Het
Cstf3 T A 2: 104,439,347 (GRCm39) probably benign Het
Dnah3 C A 7: 119,570,689 (GRCm39) probably null Het
E2f6 T C 12: 16,874,706 (GRCm39) C263R probably benign Het
Eps8l2 C A 7: 140,936,534 (GRCm39) Q288K possibly damaging Het
Fam193a T A 5: 34,578,199 (GRCm39) V231D probably damaging Het
Gjd3 C T 11: 102,691,029 (GRCm39) G325S probably benign Het
Gpatch8 T A 11: 102,429,111 (GRCm39) E39D unknown Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Kansl3 G T 1: 36,385,045 (GRCm39) H629N possibly damaging Het
Kcna10 C A 3: 107,101,545 (GRCm39) H59N probably benign Het
Kitl A T 10: 99,915,886 (GRCm39) E138D possibly damaging Het
Kpna2 T C 11: 106,881,571 (GRCm39) K353R probably damaging Het
M1ap T A 6: 82,958,798 (GRCm39) I143N probably damaging Het
Macf1 A G 4: 123,420,538 (GRCm39) S239P possibly damaging Het
Med13l T A 5: 118,880,105 (GRCm39) S1066T probably damaging Het
Mettl23 G T 11: 116,739,865 (GRCm39) E47* probably null Het
Or52i2 T C 7: 102,319,433 (GRCm39) F102S probably damaging Het
Or5af1 C T 11: 58,722,039 (GRCm39) Q20* probably null Het
Proca1 T A 11: 78,092,699 (GRCm39) D48E possibly damaging Het
Rab34 T G 11: 78,082,458 (GRCm39) V227G probably damaging Het
Rasgef1c C T 11: 49,847,934 (GRCm39) S23F probably benign Het
Rit1 A G 3: 88,633,457 (GRCm39) probably benign Het
Scin T C 12: 40,174,568 (GRCm39) T172A probably benign Het
Scmh1 C A 4: 120,325,575 (GRCm39) N97K probably damaging Het
Skint6 T C 4: 112,846,162 (GRCm39) E655G possibly damaging Het
Slc22a15 A G 3: 101,771,905 (GRCm39) V243A probably benign Het
Smg1 A G 7: 117,789,042 (GRCm39) probably benign Het
Smim7 C T 8: 73,324,867 (GRCm39) G3R probably damaging Het
Snurf C T 7: 59,645,282 (GRCm39) R44H possibly damaging Het
Snx13 G A 12: 35,174,471 (GRCm39) A667T possibly damaging Het
Sowaha T G 11: 53,369,590 (GRCm39) H382P probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem259 G T 10: 79,814,442 (GRCm39) probably null Het
Topbp1 A G 9: 103,211,277 (GRCm39) T945A probably damaging Het
Tor1aip2 T C 1: 155,939,307 (GRCm39) probably benign Het
Ube3b T C 5: 114,527,136 (GRCm39) V118A probably damaging Het
Usp38 T C 8: 81,711,717 (GRCm39) K773E probably damaging Het
Wnk1 G A 6: 119,925,852 (GRCm39) probably benign Het
Zfp871 A G 17: 32,994,842 (GRCm39) V111A 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
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
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'- CTATACTCTACCCCACTGGAAGG -3'
(R):5'- AGCTAAAGGGTTCACAGGCC -3'

Sequencing Primer
(F):5'- CAAGAAAATACTTGTTTGAGGGTTCC -3'
(R):5'- CGGGGGCCAGTCTGAGTG -3'
Posted On 2016-10-24