Incidental Mutation 'IGL02610:Rhod'
| ID |
300448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhod
|
| Ensembl Gene |
ENSMUSG00000041845 |
| Gene Name |
ras homolog family member D |
| Synonyms |
Arhd |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4475487-4489460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4476203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 183
(F183L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048197]
[ENSMUST00000117462]
|
| AlphaFold |
P97348 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048197
AA Change: F183L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: F183L
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
20 |
193 |
3.46e-114 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117462
|
| SMART Domains |
Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
20 |
167 |
1.09e-79 |
SMART |
|
low complexity region
|
176 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151420
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
| Other mutations in Rhod |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Rhod
|
APN |
19 |
4,476,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03164:Rhod
|
APN |
19 |
4,482,829 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03409:Rhod
|
APN |
19 |
4,482,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1330:Rhod
|
UTSW |
19 |
4,476,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Rhod
|
UTSW |
19 |
4,482,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Rhod
|
UTSW |
19 |
4,476,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5887:Rhod
|
UTSW |
19 |
4,489,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6429:Rhod
|
UTSW |
19 |
4,476,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8478:Rhod
|
UTSW |
19 |
4,476,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Rhod
|
UTSW |
19 |
4,476,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Rhod
|
UTSW |
19 |
4,476,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation