Incidental Mutation 'R5710:Arhgap18'
| ID |
452177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap18
|
| Ensembl Gene |
ENSMUSG00000039031 |
| Gene Name |
Rho GTPase activating protein 18 |
| Synonyms |
4833419J07Rik |
| MMRRC Submission |
044396-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5710 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
26648363-26794644 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 26736729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135030
(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 |
noncoding transcript
Transcript: ENSMUST00000142284
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176060
|
| SMART Domains |
Protein: ENSMUSP00000135030
Gene: ENSMUSG00000039031
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
| Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
| Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
| Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
| Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
| Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
| Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
| Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
| Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
| Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
| Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
| T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
| Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
| Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
| Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
|
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 |
|
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'- ATCTAGTGGGGCTGTCGATAGC -3'
(R):5'- GAATGTTATGCCACCAACTTTTCTG -3'
Sequencing Primer
(F):5'- GCTGTCGATAGCAAGGAGC -3'
(R):5'- AGAAATTCTTGCCAGGCGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation