Incidental Mutation 'R2986:Arhgap18'
| ID |
257804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap18
|
| Ensembl Gene |
ENSMUSG00000039031 |
| Gene Name |
Rho GTPase activating protein 18 |
| Synonyms |
4833419J07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2986 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
26648363-26794644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26730903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039557]
[ENSMUST00000135866]
[ENSMUST00000176060]
|
| AlphaFold |
Q8K0Q5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039557
AA Change: T194A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: T194A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
RhoGAP
|
340 |
520 |
8.99e-42 |
SMART |
|
coiled coil region
|
535 |
557 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
572 |
613 |
1e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135866
|
| SMART Domains |
Protein: ENSMUSP00000135783
Gene: ENSMUSG00000039031
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176060
AA Change: T122A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135030
Gene: ENSMUSG00000039031
AA Change: T122A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
T |
A |
17: 47,777,697 (GRCm39) |
C474* |
probably null |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,248,478 (GRCm39) |
L75P |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,641,931 (GRCm39) |
V1034E |
probably benign |
Het |
| Cenpl |
C |
T |
1: 160,911,037 (GRCm39) |
|
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,511,453 (GRCm39) |
R227H |
possibly damaging |
Het |
| Dipk2a |
C |
A |
9: 94,402,570 (GRCm39) |
C364F |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,677,690 (GRCm39) |
E141G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,903,424 (GRCm39) |
C3024R |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,429,363 (GRCm39) |
D43G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,251,010 (GRCm39) |
D824V |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,221 (GRCm39) |
D116N |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,551,142 (GRCm39) |
D190G |
probably benign |
Het |
| Ttll11 |
G |
A |
2: 35,707,750 (GRCm39) |
S519L |
probably benign |
Het |
| Wdr49 |
T |
C |
3: 75,289,347 (GRCm39) |
M184V |
probably benign |
Het |
| Zfp384 |
T |
A |
6: 125,001,859 (GRCm39) |
V113E |
possibly damaging |
Het |
|
| Other mutations in Arhgap18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01609:Arhgap18
|
APN |
10 |
26,756,744 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02393:Arhgap18
|
APN |
10 |
26,753,179 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03368:Arhgap18
|
APN |
10 |
26,648,689 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Half_pint
|
UTSW |
10 |
26,648,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0698:Arhgap18
|
UTSW |
10 |
26,788,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Arhgap18
|
UTSW |
10 |
26,792,436 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1532:Arhgap18
|
UTSW |
10 |
26,736,718 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1768:Arhgap18
|
UTSW |
10 |
26,763,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Arhgap18
|
UTSW |
10 |
26,763,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Arhgap18
|
UTSW |
10 |
26,736,732 (GRCm39) |
unclassified |
probably benign |
|
|
R1867:Arhgap18
|
UTSW |
10 |
26,722,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2020:Arhgap18
|
UTSW |
10 |
26,730,900 (GRCm39) |
missense |
probably benign |
|
|
R2049:Arhgap18
|
UTSW |
10 |
26,725,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2056:Arhgap18
|
UTSW |
10 |
26,730,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2058:Arhgap18
|
UTSW |
10 |
26,730,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3027:Arhgap18
|
UTSW |
10 |
26,722,092 (GRCm39) |
missense |
probably benign |
|
|
R5103:Arhgap18
|
UTSW |
10 |
26,745,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Arhgap18
|
UTSW |
10 |
26,788,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5532:Arhgap18
|
UTSW |
10 |
26,722,104 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5710:Arhgap18
|
UTSW |
10 |
26,736,729 (GRCm39) |
splice site |
probably null |
|
|
R6019:Arhgap18
|
UTSW |
10 |
26,736,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6190:Arhgap18
|
UTSW |
10 |
26,722,031 (GRCm39) |
start codon destroyed |
probably null |
0.22 |
|
R6346:Arhgap18
|
UTSW |
10 |
26,722,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Arhgap18
|
UTSW |
10 |
26,648,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6572:Arhgap18
|
UTSW |
10 |
26,722,412 (GRCm39) |
splice site |
probably null |
|
|
R6799:Arhgap18
|
UTSW |
10 |
26,725,917 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6844:Arhgap18
|
UTSW |
10 |
26,648,682 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7051:Arhgap18
|
UTSW |
10 |
26,725,917 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7084:Arhgap18
|
UTSW |
10 |
26,748,734 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7727:Arhgap18
|
UTSW |
10 |
26,746,007 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8046:Arhgap18
|
UTSW |
10 |
26,763,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8252:Arhgap18
|
UTSW |
10 |
26,730,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8392:Arhgap18
|
UTSW |
10 |
26,721,936 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8485:Arhgap18
|
UTSW |
10 |
26,722,104 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9132:Arhgap18
|
UTSW |
10 |
26,730,886 (GRCm39) |
missense |
probably benign |
|
|
R9159:Arhgap18
|
UTSW |
10 |
26,730,886 (GRCm39) |
missense |
probably benign |
|
|
R9245:Arhgap18
|
UTSW |
10 |
26,722,107 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9375:Arhgap18
|
UTSW |
10 |
26,648,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Arhgap18
|
UTSW |
10 |
26,788,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Arhgap18
|
UTSW |
10 |
26,726,000 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGTGGCACTCTGTTC -3'
(R):5'- GCATGCCACTGTGAATATGATAAG -3'
Sequencing Primer
(F):5'- CGCTGCCTGTGACGTGTATAAG -3'
(R):5'- GCCACTGTGAATATGATAAGCATTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation