Incidental Mutation 'IGL01539:Rab29'
ID |
90093 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rab29
|
Ensembl Gene |
ENSMUSG00000026433 |
Gene Name |
RAB29, member RAS oncogene family |
Synonyms |
Rab7l1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131794962-131800625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 131798445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 75
(R75Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027693]
[ENSMUST00000112386]
[ENSMUST00000125925]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027693
AA Change: R75Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027693 Gene: ENSMUSG00000026433 AA Change: R75Q
Domain | Start | End | E-Value | Type |
RAB
|
8 |
176 |
2.25e-63 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112386
AA Change: R75Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108005 Gene: ENSMUSG00000026433 AA Change: R75Q
Domain | Start | End | E-Value | Type |
RAB
|
8 |
176 |
2.25e-63 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187084
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
Other mutations in Rab29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02339:Rab29
|
APN |
1 |
131,799,880 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02528:Rab29
|
APN |
1 |
131,797,749 (GRCm39) |
splice site |
probably benign |
|
R1728:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1729:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1730:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1739:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1762:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1783:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1784:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R1785:Rab29
|
UTSW |
1 |
131,799,848 (GRCm39) |
missense |
probably benign |
|
R4171:Rab29
|
UTSW |
1 |
131,795,475 (GRCm39) |
missense |
probably benign |
0.02 |
R4193:Rab29
|
UTSW |
1 |
131,797,700 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4516:Rab29
|
UTSW |
1 |
131,795,469 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4559:Rab29
|
UTSW |
1 |
131,800,305 (GRCm39) |
nonsense |
probably null |
|
R7739:Rab29
|
UTSW |
1 |
131,799,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R9310:Rab29
|
UTSW |
1 |
131,799,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R9483:Rab29
|
UTSW |
1 |
131,795,508 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Posted On |
2013-12-03 |