Incidental Mutation 'IGL03078:Rhoh'
| ID |
417758 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhoh
|
| Ensembl Gene |
ENSMUSG00000029204 |
| Gene Name |
ras homolog family member H |
| Synonyms |
5830400A04Rik, Arhh |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
66018556-66054043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66050231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 167
(V167D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031106]
[ENSMUST00000201533]
|
| AlphaFold |
Q9D3G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031106
AA Change: V167D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031106
Gene: ENSMUSG00000029204
AA Change: V167D
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
7 |
173 |
1.58e-90 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201533
AA Change: V167D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143810
Gene: ENSMUSG00000029204
AA Change: V167D
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
7 |
173 |
1.58e-90 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the differentiation of T cells and mast cell physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
| Other mutations in Rhoh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01978:Rhoh
|
APN |
5 |
66,050,031 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02039:Rhoh
|
APN |
5 |
66,049,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Rhoh
|
APN |
5 |
66,050,143 (GRCm39) |
missense |
probably benign |
0.28 |
|
hohenzollern
|
UTSW |
5 |
66,050,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4059:Rhoh
|
UTSW |
5 |
66,049,931 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4662:Rhoh
|
UTSW |
5 |
66,050,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5370:Rhoh
|
UTSW |
5 |
66,049,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6968:Rhoh
|
UTSW |
5 |
66,049,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7130:Rhoh
|
UTSW |
5 |
66,050,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9688:Rhoh
|
UTSW |
5 |
66,049,656 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation