Incidental Mutation 'R5047:Rab7'
| ID |
394411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab7
|
| Ensembl Gene |
ENSMUSG00000079477 |
| Gene Name |
RAB7, member RAS oncogene family |
| Synonyms |
|
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87976088-88022252 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 87982205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000095048
|
| SMART Domains |
Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
176 |
9.3e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113596
|
| SMART Domains |
Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
176 |
9.3e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113597
|
| SMART Domains |
Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
176 |
9.3e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113598
|
| SMART Domains |
Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
176 |
9.3e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113600
|
| SMART Domains |
Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
176 |
9.3e-97 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153372
|
| SMART Domains |
Protein: ENSMUSP00000122496
Gene: ENSMUSG00000084950
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203674
|
| SMART Domains |
Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
6 |
87 |
3.5e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204126
|
| SMART Domains |
Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
6 |
99 |
6.6e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
Het |
|
| Other mutations in Rab7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CAAAAGGGAAGTTCTCGGGATC -3'
(R):5'- ACTGCTTGCTTCAACTCCAG -3'
Sequencing Primer
(F):5'- AAACTCGTCTCTCCAGCT -3'
(R):5'- TTTAGCCTATAATCCCAACACCCAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation