Incidental Mutation 'IGL00923:Rab10'
| ID |
28727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab10
|
| Ensembl Gene |
ENSMUSG00000020671 |
| Gene Name |
RAB10, member RAS oncogene family |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
IGL00923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
3297428-3359969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3303334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 118
(M118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021001]
|
| AlphaFold |
P61027 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021001
AA Change: M118L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000021001
Gene: ENSMUSG00000020671
AA Change: M118L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
10 |
173 |
1.43e-106 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000049684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179924
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
A |
5: 89,832,235 (GRCm39) |
E956V |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,915 (GRCm39) |
G1071E |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,530,410 (GRCm39) |
V5888D |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,931,920 (GRCm39) |
T189I |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,024,165 (GRCm39) |
L335P |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,119,849 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
T |
6: 36,839,391 (GRCm39) |
N933K |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,579,033 (GRCm39) |
A660D |
probably damaging |
Het |
| Dnajc9 |
T |
C |
14: 20,435,515 (GRCm39) |
D232G |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,504 (GRCm39) |
|
probably benign |
Het |
| Elp6 |
A |
T |
9: 110,139,193 (GRCm39) |
T29S |
probably damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,827,147 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,145,397 (GRCm39) |
D2746E |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,815,348 (GRCm39) |
N737K |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,386,285 (GRCm39) |
V737A |
possibly damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,814,959 (GRCm39) |
N164K |
probably damaging |
Het |
| Nrtn |
A |
G |
17: 57,059,447 (GRCm39) |
S11P |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,456 (GRCm39) |
|
probably null |
Het |
| Or4f62 |
T |
A |
2: 111,987,122 (GRCm39) |
D275E |
possibly damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,295,669 (GRCm39) |
V175A |
probably benign |
Het |
| Tex21 |
T |
A |
12: 76,291,885 (GRCm39) |
D12V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
| Vmn1r215 |
G |
A |
13: 23,260,419 (GRCm39) |
G153D |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,163,617 (GRCm39) |
D612G |
unknown |
Het |
| Zfp354c |
A |
T |
11: 50,706,440 (GRCm39) |
Y212N |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,352,845 (GRCm39) |
M631K |
probably damaging |
Het |
|
| Other mutations in Rab10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03151:Rab10
|
APN |
12 |
3,299,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03275:Rab10
|
APN |
12 |
3,306,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Rab10
|
UTSW |
12 |
3,359,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Rab10
|
UTSW |
12 |
3,302,723 (GRCm39) |
splice site |
probably null |
|
|
R0541:Rab10
|
UTSW |
12 |
3,314,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Rab10
|
UTSW |
12 |
3,306,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9696:Rab10
|
UTSW |
12 |
3,306,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation