Incidental Mutation 'R1192:Arhgef3'
| ID |
100911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef3
|
| Ensembl Gene |
ENSMUSG00000021895 |
| Gene Name |
Rho guanine nucleotide exchange factor 3 |
| Synonyms |
9830169H03Rik, C76747, 1200004I24Rik |
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26836856-27125868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27101663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 133
(T133N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049206]
[ENSMUST00000224981]
[ENSMUST00000225949]
|
| AlphaFold |
Q91X46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049206
AA Change: T113N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046486
Gene: ENSMUSG00000021895
AA Change: T113N
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
132 |
309 |
4.11e-51 |
SMART |
|
PH
|
318 |
457 |
3.26e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175293
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224981
AA Change: T106N
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225494
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225949
AA Change: T133N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1421 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Arhgef3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Arhgef3
|
APN |
14 |
27,123,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL02178:Arhgef3
|
APN |
14 |
26,987,486 (GRCm39) |
nonsense |
probably null |
|
|
IGL02302:Arhgef3
|
APN |
14 |
27,084,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02505:Arhgef3
|
APN |
14 |
27,115,957 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03203:Arhgef3
|
APN |
14 |
27,116,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03339:Arhgef3
|
APN |
14 |
27,123,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0762:Arhgef3
|
UTSW |
14 |
27,119,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Arhgef3
|
UTSW |
14 |
27,123,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Arhgef3
|
UTSW |
14 |
27,119,562 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2426:Arhgef3
|
UTSW |
14 |
27,106,138 (GRCm39) |
nonsense |
probably null |
|
|
R2509:Arhgef3
|
UTSW |
14 |
27,101,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Arhgef3
|
UTSW |
14 |
27,106,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5017:Arhgef3
|
UTSW |
14 |
26,987,487 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5216:Arhgef3
|
UTSW |
14 |
27,123,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6562:Arhgef3
|
UTSW |
14 |
26,874,953 (GRCm39) |
start gained |
probably benign |
|
|
R6951:Arhgef3
|
UTSW |
14 |
26,865,975 (GRCm39) |
start gained |
probably benign |
|
|
R7140:Arhgef3
|
UTSW |
14 |
27,123,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Arhgef3
|
UTSW |
14 |
26,987,535 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7968:Arhgef3
|
UTSW |
14 |
27,116,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Arhgef3
|
UTSW |
14 |
27,108,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7988:Arhgef3
|
UTSW |
14 |
27,123,743 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8042:Arhgef3
|
UTSW |
14 |
27,084,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8077:Arhgef3
|
UTSW |
14 |
27,107,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Arhgef3
|
UTSW |
14 |
27,116,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9199:Arhgef3
|
UTSW |
14 |
27,122,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9365:Arhgef3
|
UTSW |
14 |
27,101,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTGCCTTTTGTGTGAGCC -3'
(R):5'- TGTGAGTGGATGAATCCTAACCGGAC -3'
Sequencing Primer
(F):5'- GAGGGTTCCCACTCCTTAAAAG -3'
(R):5'- TGAATCCTAACCGGACACTTAGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation