Incidental Mutation 'R6438:Arhgap18'
ID |
518861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap18
|
Ensembl Gene |
ENSMUSG00000039031 |
Gene Name |
Rho GTPase activating protein 18 |
Synonyms |
4833419J07Rik |
MMRRC Submission |
044576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6438 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
26648363-26794644 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 26648694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039557]
[ENSMUST00000176060]
|
AlphaFold |
Q8K0Q5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039557
|
SMART Domains |
Protein: ENSMUSP00000044834 Gene: ENSMUSG00000039031
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: ENSMUST00000176060
|
SMART Domains |
Protein: ENSMUSP00000135030 Gene: ENSMUSG00000039031
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220012
|
Meta Mutation Damage Score |
0.9498 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
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 |
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 |
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'- GGCGAGACAGGAACTTCATTC -3'
(R):5'- ATCAGTCAGTATTTGCACATGC -3'
Sequencing Primer
(F):5'- CCCCTCTGTGTCAGAATCCCAG -3'
(R):5'- ACCTGCTAAGCAACTGGTCG -3'
|
Posted On |
2018-05-24 |