Incidental Mutation 'R4083:Rab27a'
| ID |
316982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab27a
|
| Ensembl Gene |
ENSMUSG00000032202 |
| Gene Name |
RAB27A, member RAS oncogene family |
| Synonyms |
2410003M20Rik, 4933437C11Rik, 2210402C08Rik |
| MMRRC Submission |
040978-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.502)
|
| Stock # |
R4083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72952136-73004911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72989721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 64
(R64L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034722]
[ENSMUST00000184146]
|
| AlphaFold |
Q9ERI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034722
AA Change: R64L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202
AA Change: R64L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
9.9e-92 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184146
AA Change: R64L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202
AA Change: R64L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
184 |
9.9e-92 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184575
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,964,184 (GRCm39) |
S749P |
probably benign |
Het |
| Ccdc159 |
T |
C |
9: 21,840,699 (GRCm39) |
S89P |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,886,042 (GRCm39) |
S326T |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,396,344 (GRCm39) |
T124M |
possibly damaging |
Het |
| Fmod |
A |
T |
1: 133,968,043 (GRCm39) |
I28F |
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,047 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
T |
G |
5: 9,562,054 (GRCm39) |
I599L |
probably benign |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Hsd17b11 |
A |
T |
5: 104,138,434 (GRCm39) |
V280D |
possibly damaging |
Het |
| Igkv8-26 |
G |
T |
6: 70,170,547 (GRCm39) |
S46I |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,129,748 (GRCm39) |
E476G |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,681,320 (GRCm39) |
N437K |
probably benign |
Het |
| Mterf4 |
A |
C |
1: 93,232,380 (GRCm39) |
M157R |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,524,192 (GRCm39) |
W1683R |
probably damaging |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Or14j10 |
T |
G |
17: 37,935,316 (GRCm39) |
D70A |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,851 (GRCm39) |
P58T |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,065 (GRCm39) |
L167Q |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,621,595 (GRCm39) |
V989A |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,516,071 (GRCm39) |
V330A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,831,662 (GRCm39) |
M351T |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,212 (GRCm39) |
H84Q |
probably benign |
Het |
|
| Other mutations in Rab27a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Rab27a
|
APN |
9 |
72,982,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02000:Rab27a
|
APN |
9 |
72,992,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
concrete
|
UTSW |
9 |
72,989,690 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
geodude
|
UTSW |
9 |
72,992,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ivan
|
UTSW |
9 |
72,982,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0644:Rab27a
|
UTSW |
9 |
73,002,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0671:Rab27a
|
UTSW |
9 |
72,982,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Rab27a
|
UTSW |
9 |
72,989,684 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1522:Rab27a
|
UTSW |
9 |
72,982,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Rab27a
|
UTSW |
9 |
73,002,685 (GRCm39) |
missense |
probably benign |
|
|
R1634:Rab27a
|
UTSW |
9 |
72,982,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1950:Rab27a
|
UTSW |
9 |
72,982,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Rab27a
|
UTSW |
9 |
72,992,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Rab27a
|
UTSW |
9 |
72,982,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5027:Rab27a
|
UTSW |
9 |
73,002,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5881:Rab27a
|
UTSW |
9 |
72,992,321 (GRCm39) |
splice site |
probably null |
|
|
R6750:Rab27a
|
UTSW |
9 |
72,992,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Rab27a
|
UTSW |
9 |
72,992,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTAGTAGGAGGTGCCATTGC -3'
(R):5'- GATCTGGCAGCTCATCTTACC -3'
Sequencing Primer
(F):5'- TAGGAGGTGCCATTGCTCAAG -3'
(R):5'- CTCATCTTACCAGGTGCAGATGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation