Incidental Mutation 'IGL00789:Rab32'
| ID |
10358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab32
|
| Ensembl Gene |
ENSMUSG00000019832 |
| Gene Name |
RAB32, member RAS oncogene family |
| Synonyms |
2810011A17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
IGL00789
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
10420783-10433951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10426556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 130
(N130S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019974]
[ENSMUST00000220018]
|
| AlphaFold |
Q9CZE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019974
AA Change: N130S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019974
Gene: ENSMUSG00000019832
AA Change: N130S
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
24 |
193 |
3.44e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220018
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
T |
5: 144,222,356 (GRCm39) |
L133* |
probably null |
Het |
| Baiap2l1 |
A |
T |
5: 144,222,879 (GRCm39) |
|
probably null |
Het |
| Cobll1 |
A |
T |
2: 64,956,357 (GRCm39) |
D300E |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,951 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,886 (GRCm39) |
H111N |
probably damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,078,299 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,309,566 (GRCm39) |
|
probably benign |
Het |
| Ms4a13 |
T |
G |
19: 11,162,478 (GRCm39) |
S80R |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,326,353 (GRCm39) |
V2419M |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,803,178 (GRCm39) |
V657A |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,193,249 (GRCm39) |
T935I |
probably benign |
Het |
|
| Other mutations in Rab32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Rab32
|
APN |
10 |
10,433,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01071:Rab32
|
APN |
10 |
10,433,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Rab32
|
APN |
10 |
10,422,199 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Rab32
|
APN |
10 |
10,422,171 (GRCm39) |
missense |
probably benign |
|
|
IGL03233:Rab32
|
APN |
10 |
10,422,057 (GRCm39) |
nonsense |
probably null |
|
|
A5278:Rab32
|
UTSW |
10 |
10,433,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0135:Rab32
|
UTSW |
10 |
10,426,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Rab32
|
UTSW |
10 |
10,426,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Rab32
|
UTSW |
10 |
10,426,611 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1406:Rab32
|
UTSW |
10 |
10,426,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Rab32
|
UTSW |
10 |
10,426,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Rab32
|
UTSW |
10 |
10,426,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Rab32
|
UTSW |
10 |
10,426,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6665:Rab32
|
UTSW |
10 |
10,433,846 (GRCm39) |
start gained |
probably benign |
|
|
R7880:Rab32
|
UTSW |
10 |
10,422,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation