Incidental Mutation 'IGL01696:Arhgdia'
| ID |
104292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgdia
|
| Ensembl Gene |
ENSMUSG00000025132 |
| Gene Name |
Rho GDP dissociation inhibitor alpha |
| Synonyms |
5330430M07Rik, Rho GDIalpha, Rho-GDI |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.638)
|
| Stock # |
IGL01696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120468930-120472450 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 120471202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067936]
[ENSMUST00000106197]
|
| AlphaFold |
Q99PT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067936
|
| SMART Domains |
Protein: ENSMUSP00000063714
Gene: ENSMUSG00000025132
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
201 |
5e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106197
|
| SMART Domains |
Protein: ENSMUSP00000101803
Gene: ENSMUSG00000025132
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
11 |
201 |
4.6e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193520
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation develop nephrotic syndrome, including renal tubule dilation and degeneration, leading to premature death from renal failure. Male mice are sterile and female mice exhibit reduced fertility from postimplantation defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
G |
5: 121,638,856 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ano3 |
T |
G |
2: 110,498,082 (GRCm39) |
D753A |
probably damaging |
Het |
| Apoc4 |
C |
T |
7: 19,412,109 (GRCm39) |
C113Y |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,573,815 (GRCm39) |
T459A |
possibly damaging |
Het |
| Ccdc190 |
A |
C |
1: 169,761,393 (GRCm39) |
K165T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,567,128 (GRCm39) |
V1185A |
probably benign |
Het |
| Ednrb |
C |
T |
14: 104,060,625 (GRCm39) |
V223I |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,623,538 (GRCm39) |
I151V |
possibly damaging |
Het |
| Gm15737 |
T |
A |
6: 92,856,802 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,837,371 (GRCm39) |
H348R |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,675,590 (GRCm39) |
A95S |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,425,997 (GRCm39) |
Y928C |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,680 (GRCm39) |
H210R |
probably benign |
Het |
| Or1l4 |
A |
G |
2: 37,091,523 (GRCm39) |
E90G |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,352 (GRCm39) |
I135L |
probably benign |
Het |
| Or8c15 |
A |
C |
9: 38,120,345 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,783,126 (GRCm39) |
S731R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,747 (GRCm39) |
M1694T |
possibly damaging |
Het |
| Pld2 |
C |
A |
11: 70,433,606 (GRCm39) |
R212S |
probably damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,355,793 (GRCm39) |
F4L |
probably benign |
Het |
| Rps6ka6 |
T |
C |
X: 110,317,214 (GRCm39) |
Q634R |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,671,822 (GRCm39) |
E378G |
probably benign |
Het |
| Tmem184b |
T |
C |
15: 79,262,729 (GRCm39) |
T43A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,577,132 (GRCm39) |
V24587A |
probably damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,547 (GRCm39) |
L262Q |
probably damaging |
Het |
| Zfp954 |
G |
T |
7: 7,118,397 (GRCm39) |
H382Q |
probably damaging |
Het |
|
| Other mutations in Arhgdia |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Arhgdia
|
APN |
11 |
120,471,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01821:Arhgdia
|
APN |
11 |
120,471,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:Arhgdia
|
APN |
11 |
120,471,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1886:Arhgdia
|
UTSW |
11 |
120,470,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2520:Arhgdia
|
UTSW |
11 |
120,470,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Arhgdia
|
UTSW |
11 |
120,470,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Arhgdia
|
UTSW |
11 |
120,470,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Arhgdia
|
UTSW |
11 |
120,470,354 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9134:Arhgdia
|
UTSW |
11 |
120,470,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Arhgdia
|
UTSW |
11 |
120,470,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation