Incidental Mutation 'IGL02393:Arhgap18'
| ID |
293890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
26648363-26794644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26753179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 357
(S357R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039557]
|
| AlphaFold |
Q8K0Q5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039557
AA Change: S357R
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: S357R
| 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 |
noncoding transcript
Transcript: ENSMUST00000142284
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably 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 |
|
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 |
|
R2986:Arhgap18
|
UTSW |
10 |
26,730,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation