Incidental Mutation 'IGL02545:Gdi2'
| ID |
297785 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gdi2
|
| Ensembl Gene |
ENSMUSG00000021218 |
| Gene Name |
GDP dissociation inhibitor 2 |
| Synonyms |
GDI beta, GDIB, Gdi3, GDI-B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
3588075-3616261 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3607009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 214
(Y214C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059515]
[ENSMUST00000222365]
[ENSMUST00000223396]
|
| AlphaFold |
Q61598 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059515
AA Change: Y188C
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: Y188C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDI
|
1 |
436 |
4.6e-239 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221875
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222365
AA Change: Y214C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223396
AA Change: Y224C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223501
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,994 (GRCm39) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,590,684 (GRCm39) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,222,645 (GRCm39) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,850 (GRCm39) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,335,636 (GRCm39) |
F167L |
probably benign |
Het |
| Ctcf |
A |
G |
8: 106,391,013 (GRCm39) |
T207A |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,525,838 (GRCm39) |
H580R |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,177 (GRCm39) |
D53G |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,939,271 (GRCm39) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,093,095 (GRCm39) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,847,715 (GRCm39) |
T202A |
probably benign |
Het |
| Gna14 |
T |
A |
19: 16,511,090 (GRCm39) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,043,153 (GRCm39) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,359 (GRCm39) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,014,506 (GRCm39) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,797,272 (GRCm39) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,082,853 (GRCm39) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,891,011 (GRCm39) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,338 (GRCm39) |
F72L |
probably damaging |
Het |
| Neu1 |
T |
A |
17: 35,150,477 (GRCm39) |
V32E |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,833 (GRCm39) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,853,060 (GRCm39) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,706,280 (GRCm39) |
V340A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,468,998 (GRCm39) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,481,306 (GRCm39) |
W210* |
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,079 (GRCm39) |
Y511H |
probably damaging |
Het |
| Psme4 |
T |
G |
11: 30,791,586 (GRCm39) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,654,754 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,146,296 (GRCm39) |
|
probably benign |
Het |
| Trim54 |
T |
A |
5: 31,289,509 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,388,357 (GRCm39) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,113 (GRCm39) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,655,798 (GRCm39) |
M406K |
possibly damaging |
Het |
|
| Other mutations in Gdi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Gdi2
|
APN |
13 |
3,606,467 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01135:Gdi2
|
APN |
13 |
3,598,855 (GRCm39) |
splice site |
probably benign |
|
|
IGL01402:Gdi2
|
APN |
13 |
3,614,611 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01404:Gdi2
|
APN |
13 |
3,614,611 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02100:Gdi2
|
APN |
13 |
3,606,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02305:Gdi2
|
APN |
13 |
3,606,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02561:Gdi2
|
APN |
13 |
3,598,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02939:Gdi2
|
APN |
13 |
3,614,623 (GRCm39) |
missense |
probably benign |
0.21 |
|
E0354:Gdi2
|
UTSW |
13 |
3,611,939 (GRCm39) |
splice site |
probably null |
|
|
R1612:Gdi2
|
UTSW |
13 |
3,610,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1775:Gdi2
|
UTSW |
13 |
3,610,018 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1803:Gdi2
|
UTSW |
13 |
3,614,547 (GRCm39) |
nonsense |
probably null |
|
|
R2254:Gdi2
|
UTSW |
13 |
3,604,400 (GRCm39) |
splice site |
probably null |
|
|
R2426:Gdi2
|
UTSW |
13 |
3,612,034 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4081:Gdi2
|
UTSW |
13 |
3,598,866 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6365:Gdi2
|
UTSW |
13 |
3,615,093 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7130:Gdi2
|
UTSW |
13 |
3,598,891 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7268:Gdi2
|
UTSW |
13 |
3,606,363 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Gdi2
|
UTSW |
13 |
3,606,395 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7590:Gdi2
|
UTSW |
13 |
3,614,611 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7753:Gdi2
|
UTSW |
13 |
3,598,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8114:Gdi2
|
UTSW |
13 |
3,598,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Gdi2
|
UTSW |
13 |
3,614,869 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9731:Gdi2
|
UTSW |
13 |
3,588,299 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation