Incidental Mutation 'IGL02293:Rhoj'
| ID |
290126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhoj
|
| Ensembl Gene |
ENSMUSG00000046768 |
| Gene Name |
ras homolog family member J |
| Synonyms |
1110005O19Rik, TCL, Arhj, TC10L |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
75355096-75448230 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 75422186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055390]
[ENSMUST00000118602]
[ENSMUST00000118966]
[ENSMUST00000172981]
|
| AlphaFold |
Q9ER71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055390
|
| SMART Domains |
Protein: ENSMUSP00000059498
Gene: ENSMUSG00000046768
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
24 |
197 |
1.4e-109 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118602
|
| SMART Domains |
Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
24 |
169 |
8.2e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118966
|
| SMART Domains |
Protein: ENSMUSP00000113165
Gene: ENSMUSG00000046768
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
24 |
167 |
2.13e-73 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172981
|
| SMART Domains |
Protein: ENSMUSP00000134552
Gene: ENSMUSG00000046768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
4 |
50 |
2.6e-12 |
PFAM |
|
| 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 one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight delay in radial growth in the retina and empty basement membrane sleeves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klhl32 |
A |
G |
4: 24,626,935 (GRCm39) |
Y555H |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,172,276 (GRCm39) |
S357P |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,505,425 (GRCm39) |
V380D |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
G |
T |
14: 55,959,153 (GRCm39) |
L5M |
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,666,268 (GRCm39) |
L483P |
probably benign |
Het |
|
| Other mutations in Rhoj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Rhoj
|
APN |
12 |
75,355,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Rhoj
|
UTSW |
12 |
75,441,194 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4609:Rhoj
|
UTSW |
12 |
75,446,980 (GRCm39) |
nonsense |
probably null |
|
|
R5560:Rhoj
|
UTSW |
12 |
75,438,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Rhoj
|
UTSW |
12 |
75,440,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Rhoj
|
UTSW |
12 |
75,438,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6828:Rhoj
|
UTSW |
12 |
75,355,653 (GRCm39) |
missense |
probably benign |
|
|
R6964:Rhoj
|
UTSW |
12 |
75,422,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Rhoj
|
UTSW |
12 |
75,422,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9038:Rhoj
|
UTSW |
12 |
75,355,700 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation