Incidental Mutation 'IGL02682:Arhgdib'
| ID |
303411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgdib
|
| Ensembl Gene |
ENSMUSG00000030220 |
| Gene Name |
Rho, GDP dissociation inhibitor beta |
| Synonyms |
D4, Ly-GDI, Gdid4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136900653-136918895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136901166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 188
(W188R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032343]
[ENSMUST00000032344]
[ENSMUST00000111891]
[ENSMUST00000111892]
[ENSMUST00000204627]
[ENSMUST00000204934]
|
| AlphaFold |
Q61599 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032343
|
| SMART Domains |
Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin_6
|
64 |
251 |
2.8e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032344
AA Change: W188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: W188R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
197 |
4e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111891
AA Change: W188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: W188R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
6 |
197 |
5.3e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111892
AA Change: W188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: W188R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
197 |
4e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204627
|
| SMART Domains |
Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
2 |
74 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204934
|
| SMART Domains |
Protein: ENSMUSP00000145103
Gene: ENSMUSG00000030220
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
89 |
1.5e-38 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the Rho guanine nucleotide dissociation inhibitor (GDI) family. This gene is expressed at high levels in hematopoietic cells. This protein is cytosolic, and dissociation of Rho from this protein is required for membrane association and activation of Rho by Guanine Nucleotide Exchange Factors (GEFs). C-terminal truncations of this gene product have been reported to promote metastasis. Multiple transcript variants and protein isoforms exist. [provided by RefSeq, Aug 2014]
PHENOTYPE: A homozygous null mutation results in mice that are viable and fertile. Immune responses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
| Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
| Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
| Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
| Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
| Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
| Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
| Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
| Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
| St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
| Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
probably benign |
Het |
|
| Other mutations in Arhgdib |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Arhgdib
|
APN |
6 |
136,910,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Arhgdib
|
APN |
6 |
136,901,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Arhgdib
|
APN |
6 |
136,910,576 (GRCm39) |
intron |
probably benign |
|
|
IGL02648:Arhgdib
|
APN |
6 |
136,910,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03381:Arhgdib
|
APN |
6 |
136,909,314 (GRCm39) |
missense |
probably benign |
0.30 |
|
K7371:Arhgdib
|
UTSW |
6 |
136,909,297 (GRCm39) |
splice site |
probably null |
|
|
PIT4810001:Arhgdib
|
UTSW |
6 |
136,901,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Arhgdib
|
UTSW |
6 |
136,903,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Arhgdib
|
UTSW |
6 |
136,906,612 (GRCm39) |
nonsense |
probably null |
|
|
R4289:Arhgdib
|
UTSW |
6 |
136,901,156 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5927:Arhgdib
|
UTSW |
6 |
136,901,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Arhgdib
|
UTSW |
6 |
136,909,253 (GRCm39) |
splice site |
probably null |
|
|
R8010:Arhgdib
|
UTSW |
6 |
136,903,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8031:Arhgdib
|
UTSW |
6 |
136,901,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9794:Arhgdib
|
UTSW |
6 |
136,906,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Arhgdib
|
UTSW |
6 |
136,910,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation