Incidental Mutation 'R0698:Arhgap18'
| ID |
62918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap18
|
| Ensembl Gene |
ENSMUSG00000039031 |
| Gene Name |
Rho GTPase activating protein 18 |
| Synonyms |
4833419J07Rik |
| MMRRC Submission |
038882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0698 (G1)
|
| Quality Score |
130 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
26648363-26794644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26788625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 579
(I579T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039557]
|
| AlphaFold |
Q8K0Q5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039557
AA Change: I579T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: I579T
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
C |
T |
16: 35,110,452 (GRCm39) |
T873M |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,905,283 (GRCm39) |
E985K |
probably benign |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,426,539 (GRCm39) |
E573G |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,227,075 (GRCm39) |
V92A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
| Cpne4 |
T |
C |
9: 104,802,994 (GRCm39) |
S213P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,507,895 (GRCm39) |
Q1672L |
probably damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,913 (GRCm39) |
C534Y |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,326,576 (GRCm39) |
M183V |
probably damaging |
Het |
| Invs |
T |
G |
4: 48,396,364 (GRCm39) |
S346A |
probably benign |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,911 (GRCm39) |
L441P |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,897,856 (GRCm39) |
R81* |
probably null |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
T |
C |
4: 15,005,041 (GRCm39) |
N141S |
probably benign |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,419 (GRCm39) |
E797D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,762,530 (GRCm39) |
Y3668H |
unknown |
Het |
| Peg10 |
T |
A |
6: 4,756,835 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,145,764 (GRCm39) |
I723V |
probably benign |
Het |
| Ptprn2 |
C |
T |
12: 116,685,750 (GRCm39) |
R70* |
probably null |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab13 |
C |
T |
3: 90,132,043 (GRCm39) |
T69M |
probably damaging |
Het |
| Rpl32 |
T |
C |
6: 115,782,551 (GRCm39) |
N126S |
probably benign |
Het |
| Sis |
C |
A |
3: 72,817,831 (GRCm39) |
A1461S |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,008,670 (GRCm39) |
L258P |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,145 (GRCm39) |
S1706T |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,720,002 (GRCm39) |
V858I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,412,730 (GRCm39) |
M1477K |
probably benign |
Het |
| Vps13c |
C |
A |
9: 67,797,005 (GRCm39) |
A464E |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,193,407 (GRCm39) |
|
probably null |
Het |
| Zcwpw1 |
G |
A |
5: 137,815,783 (GRCm39) |
E429K |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCACAGGCATTATAAAGTTCCCC -3'
(R):5'- GCTGCTCACATAGGCTGCATAAAAC -3'
Sequencing Primer
(F):5'- GTTCCCCTATCACCATTAAGAGG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation