Incidental Mutation 'R9188:Arhgap23'
ID |
697540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
068980-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9188 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97390983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 4
(I4V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056955]
[ENSMUST00000093940]
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056955
|
SMART Domains |
Protein: ENSMUSP00000060323 Gene: ENSMUSG00000047988
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093940
AA Change: I4V
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000091472 Gene: ENSMUSG00000049807 AA Change: I4V
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
72 |
123 |
3e-6 |
BLAST |
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
low complexity region
|
224 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107601
AA Change: I956V
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: I956V
Domain | Start | End | E-Value | Type |
low complexity region
|
246 |
258 |
N/A |
INTRINSIC |
low complexity region
|
354 |
369 |
N/A |
INTRINSIC |
low complexity region
|
426 |
443 |
N/A |
INTRINSIC |
PH
|
479 |
600 |
3.2e-12 |
SMART |
low complexity region
|
679 |
687 |
N/A |
INTRINSIC |
RhoGAP
|
707 |
884 |
6.83e-65 |
SMART |
low complexity region
|
1051 |
1066 |
N/A |
INTRINSIC |
low complexity region
|
1101 |
1114 |
N/A |
INTRINSIC |
low complexity region
|
1125 |
1146 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1194 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121799
AA Change: I1167V
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: I1167V
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
PDZ
|
52 |
160 |
4.2e-17 |
SMART |
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
low complexity region
|
565 |
580 |
N/A |
INTRINSIC |
low complexity region
|
637 |
654 |
N/A |
INTRINSIC |
PH
|
690 |
811 |
3.2e-12 |
SMART |
low complexity region
|
890 |
898 |
N/A |
INTRINSIC |
RhoGAP
|
918 |
1095 |
6.83e-65 |
SMART |
low complexity region
|
1262 |
1277 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1325 |
N/A |
INTRINSIC |
low complexity region
|
1336 |
1357 |
N/A |
INTRINSIC |
low complexity region
|
1387 |
1405 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142465
|
SMART Domains |
Protein: ENSMUSP00000123191 Gene: ENSMUSG00000049807
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
126 |
143 |
N/A |
INTRINSIC |
PH
|
179 |
300 |
3.2e-12 |
SMART |
low complexity region
|
379 |
387 |
N/A |
INTRINSIC |
RhoGAP
|
407 |
584 |
6.83e-65 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
G |
T |
6: 83,139,230 (GRCm39) |
R385L |
probably benign |
Het |
Abca8b |
A |
T |
11: 109,872,561 (GRCm39) |
C13* |
probably null |
Het |
Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
Adamts1 |
G |
A |
16: 85,599,571 (GRCm39) |
R10C |
probably damaging |
Het |
Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
Asic2 |
A |
G |
11: 81,042,738 (GRCm39) |
F185S |
probably benign |
Het |
Asmt |
G |
A |
X: 169,111,583 (GRCm39) |
E322K |
probably damaging |
Het |
Caprin2 |
T |
C |
6: 148,767,422 (GRCm39) |
D512G |
probably benign |
Het |
Cltc |
A |
C |
11: 86,627,992 (GRCm39) |
I52S |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,443,276 (GRCm39) |
L1040P |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,509,614 (GRCm39) |
T3019A |
probably benign |
Het |
Crisp4 |
A |
T |
1: 18,192,990 (GRCm39) |
C242* |
probably null |
Het |
Crocc |
G |
T |
4: 140,747,151 (GRCm39) |
N1716K |
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,439,223 (GRCm39) |
E12G |
possibly damaging |
Het |
Dnai4 |
T |
C |
4: 102,939,332 (GRCm39) |
T77A |
|
Het |
Drc3 |
G |
T |
11: 60,249,615 (GRCm39) |
V45F |
probably damaging |
Het |
Etv4 |
A |
G |
11: 101,666,202 (GRCm39) |
S108P |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,643,017 (GRCm39) |
D31E |
probably damaging |
Het |
F11 |
A |
T |
8: 45,698,736 (GRCm39) |
D469E |
probably benign |
Het |
Fzd7 |
A |
G |
1: 59,523,797 (GRCm39) |
H560R |
probably benign |
Het |
Gabrp |
A |
G |
11: 33,517,252 (GRCm39) |
I140T |
possibly damaging |
Het |
Get1 |
A |
G |
16: 95,955,363 (GRCm39) |
D140G |
probably benign |
Het |
Gna15 |
T |
C |
10: 81,343,798 (GRCm39) |
T288A |
probably benign |
Het |
Gucy2c |
T |
C |
6: 136,700,756 (GRCm39) |
D586G |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,484,778 (GRCm39) |
V213A |
probably damaging |
Het |
Hsd3b1 |
A |
T |
3: 98,760,216 (GRCm39) |
D258E |
probably damaging |
Het |
Ier3 |
G |
T |
17: 36,132,779 (GRCm39) |
G57W |
probably damaging |
Het |
Ifnlr1 |
T |
A |
4: 135,426,171 (GRCm39) |
C85S |
probably damaging |
Het |
Ivd |
G |
T |
2: 118,710,942 (GRCm39) |
G384C |
probably damaging |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Jak2 |
A |
C |
19: 29,288,353 (GRCm39) |
D1068A |
probably damaging |
Het |
Klk4 |
T |
C |
7: 43,534,797 (GRCm39) |
I252T |
probably damaging |
Het |
Klra17 |
A |
T |
6: 129,808,523 (GRCm39) |
C237S |
probably damaging |
Het |
Krtap1-3 |
T |
C |
11: 99,481,887 (GRCm39) |
T87A |
unknown |
Het |
Lbhd1 |
A |
T |
19: 8,864,397 (GRCm39) |
|
probably null |
Het |
Lrig3 |
A |
G |
10: 125,838,935 (GRCm39) |
R481G |
possibly damaging |
Het |
Lrrc1 |
T |
C |
9: 77,362,487 (GRCm39) |
Y247C |
probably benign |
Het |
Marchf1 |
T |
A |
8: 66,908,803 (GRCm39) |
Y174* |
probably null |
Het |
Mlxip |
A |
T |
5: 123,583,642 (GRCm39) |
T402S |
probably benign |
Het |
Mmd2 |
T |
C |
5: 142,560,957 (GRCm39) |
K93E |
probably damaging |
Het |
Mmp27 |
A |
G |
9: 7,579,792 (GRCm39) |
D422G |
possibly damaging |
Het |
Mroh7 |
T |
C |
4: 106,566,789 (GRCm39) |
I487V |
probably benign |
Het |
Nectin2 |
A |
G |
7: 19,453,119 (GRCm39) |
|
probably null |
Het |
Nfkbia |
A |
T |
12: 55,537,258 (GRCm39) |
L277H |
probably damaging |
Het |
Or4n5 |
T |
C |
14: 50,132,366 (GRCm39) |
M298V |
probably benign |
Het |
Or52r1 |
T |
A |
7: 102,536,596 (GRCm39) |
I255F |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,534,095 (GRCm39) |
V1410M |
probably damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,556,188 (GRCm39) |
N506S |
probably damaging |
Het |
Pik3c2g |
A |
C |
6: 139,599,401 (GRCm39) |
E172D |
possibly damaging |
Het |
Plch1 |
T |
C |
3: 63,639,075 (GRCm39) |
D466G |
probably null |
Het |
Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
Ppm1d |
T |
A |
11: 85,236,747 (GRCm39) |
S509T |
possibly damaging |
Het |
Prmt7 |
A |
G |
8: 106,961,486 (GRCm39) |
D133G |
probably damaging |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,594,263 (GRCm39) |
I394M |
probably benign |
Het |
Rgl1 |
G |
T |
1: 152,394,922 (GRCm39) |
N715K |
probably damaging |
Het |
Rnf212 |
G |
T |
5: 108,922,811 (GRCm39) |
S13* |
probably null |
Het |
Rpgrip1l |
T |
C |
8: 92,031,638 (GRCm39) |
T80A |
probably damaging |
Het |
Rsl1 |
G |
T |
13: 67,330,185 (GRCm39) |
S211I |
probably benign |
Het |
Serpinb9d |
A |
G |
13: 33,386,843 (GRCm39) |
M304V |
probably damaging |
Het |
Sh3rf1 |
G |
T |
8: 61,814,807 (GRCm39) |
|
probably null |
Het |
Snx16 |
C |
A |
3: 10,485,835 (GRCm39) |
K261N |
possibly damaging |
Het |
Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
Styxl1 |
T |
C |
5: 135,794,672 (GRCm39) |
|
probably null |
Het |
Tarbp2 |
A |
G |
15: 102,430,946 (GRCm39) |
D233G |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,421,234 (GRCm39) |
N633Y |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,585,693 (GRCm39) |
L190P |
probably benign |
Het |
Tmem87a |
C |
T |
2: 120,233,244 (GRCm39) |
G55D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,733,468 (GRCm39) |
Y4602* |
probably null |
Het |
Unc5b |
A |
T |
10: 60,609,550 (GRCm39) |
L582Q |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,610,025 (GRCm39) |
D31G |
probably damaging |
Het |
Zbtb32 |
C |
T |
7: 30,291,320 (GRCm39) |
|
probably benign |
Het |
Zfp936 |
C |
T |
7: 42,839,768 (GRCm39) |
L412F |
probably benign |
Het |
|
Other mutations in Arhgap23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Arhgap23
|
APN |
11 |
97,383,497 (GRCm39) |
intron |
probably benign |
|
IGL00493:Arhgap23
|
APN |
11 |
97,337,379 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01729:Arhgap23
|
APN |
11 |
97,344,787 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01805:Arhgap23
|
APN |
11 |
97,383,428 (GRCm39) |
intron |
probably benign |
|
IGL02005:Arhgap23
|
APN |
11 |
97,382,045 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02026:Arhgap23
|
APN |
11 |
97,342,407 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02135:Arhgap23
|
APN |
11 |
97,342,528 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02178:Arhgap23
|
APN |
11 |
97,343,179 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02226:Arhgap23
|
APN |
11 |
97,342,426 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02309:Arhgap23
|
APN |
11 |
97,356,827 (GRCm39) |
splice site |
probably benign |
|
IGL02399:Arhgap23
|
APN |
11 |
97,381,831 (GRCm39) |
intron |
probably benign |
|
IGL02630:Arhgap23
|
APN |
11 |
97,345,123 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02724:Arhgap23
|
APN |
11 |
97,382,005 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02740:Arhgap23
|
APN |
11 |
97,365,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Arhgap23
|
APN |
11 |
97,345,030 (GRCm39) |
splice site |
probably benign |
|
IGL02862:Arhgap23
|
APN |
11 |
97,347,306 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03380:Arhgap23
|
APN |
11 |
97,343,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Arhgap23
|
UTSW |
11 |
97,343,070 (GRCm39) |
missense |
probably benign |
0.44 |
R0134:Arhgap23
|
UTSW |
11 |
97,335,154 (GRCm39) |
missense |
probably benign |
0.09 |
R0225:Arhgap23
|
UTSW |
11 |
97,335,154 (GRCm39) |
missense |
probably benign |
0.09 |
R0305:Arhgap23
|
UTSW |
11 |
97,391,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R0358:Arhgap23
|
UTSW |
11 |
97,354,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Arhgap23
|
UTSW |
11 |
97,354,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:Arhgap23
|
UTSW |
11 |
97,342,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Arhgap23
|
UTSW |
11 |
97,337,362 (GRCm39) |
frame shift |
probably null |
|
R0782:Arhgap23
|
UTSW |
11 |
97,391,380 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1216:Arhgap23
|
UTSW |
11 |
97,383,498 (GRCm39) |
intron |
probably benign |
|
R1488:Arhgap23
|
UTSW |
11 |
97,391,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1785:Arhgap23
|
UTSW |
11 |
97,342,387 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1844:Arhgap23
|
UTSW |
11 |
97,354,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:Arhgap23
|
UTSW |
11 |
97,339,523 (GRCm39) |
missense |
probably damaging |
0.99 |
R1977:Arhgap23
|
UTSW |
11 |
97,342,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2064:Arhgap23
|
UTSW |
11 |
97,383,888 (GRCm39) |
missense |
probably benign |
0.02 |
R2130:Arhgap23
|
UTSW |
11 |
97,342,387 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2431:Arhgap23
|
UTSW |
11 |
97,343,230 (GRCm39) |
missense |
probably benign |
|
R2853:Arhgap23
|
UTSW |
11 |
97,383,420 (GRCm39) |
splice site |
probably null |
|
R3767:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R3768:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R3769:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R3770:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Arhgap23
|
UTSW |
11 |
97,345,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R4247:Arhgap23
|
UTSW |
11 |
97,354,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Arhgap23
|
UTSW |
11 |
97,342,846 (GRCm39) |
missense |
probably damaging |
0.98 |
R5399:Arhgap23
|
UTSW |
11 |
97,391,743 (GRCm39) |
missense |
probably damaging |
0.97 |
R5549:Arhgap23
|
UTSW |
11 |
97,357,394 (GRCm39) |
missense |
probably damaging |
0.96 |
R5655:Arhgap23
|
UTSW |
11 |
97,343,372 (GRCm39) |
critical splice donor site |
probably null |
|
R5857:Arhgap23
|
UTSW |
11 |
97,342,405 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6013:Arhgap23
|
UTSW |
11 |
97,391,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R6031:Arhgap23
|
UTSW |
11 |
97,366,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Arhgap23
|
UTSW |
11 |
97,366,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R6077:Arhgap23
|
UTSW |
11 |
97,382,058 (GRCm39) |
critical splice donor site |
probably null |
|
R6151:Arhgap23
|
UTSW |
11 |
97,391,238 (GRCm39) |
missense |
probably benign |
0.01 |
R6393:Arhgap23
|
UTSW |
11 |
97,354,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R6693:Arhgap23
|
UTSW |
11 |
97,357,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Arhgap23
|
UTSW |
11 |
97,343,074 (GRCm39) |
missense |
probably damaging |
0.98 |
R7202:Arhgap23
|
UTSW |
11 |
97,342,819 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7209:Arhgap23
|
UTSW |
11 |
97,383,273 (GRCm39) |
splice site |
probably null |
|
R7209:Arhgap23
|
UTSW |
11 |
97,366,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7320:Arhgap23
|
UTSW |
11 |
97,342,371 (GRCm39) |
missense |
probably benign |
0.10 |
R7345:Arhgap23
|
UTSW |
11 |
97,357,304 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7599:Arhgap23
|
UTSW |
11 |
97,391,169 (GRCm39) |
missense |
probably benign |
|
R8229:Arhgap23
|
UTSW |
11 |
97,344,732 (GRCm39) |
missense |
probably benign |
0.36 |
R8332:Arhgap23
|
UTSW |
11 |
97,381,960 (GRCm39) |
missense |
unknown |
|
R8412:Arhgap23
|
UTSW |
11 |
97,356,854 (GRCm39) |
missense |
probably benign |
0.02 |
R8460:Arhgap23
|
UTSW |
11 |
97,343,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R8492:Arhgap23
|
UTSW |
11 |
97,365,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R8525:Arhgap23
|
UTSW |
11 |
97,380,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8692:Arhgap23
|
UTSW |
11 |
97,345,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R8708:Arhgap23
|
UTSW |
11 |
97,343,238 (GRCm39) |
missense |
probably benign |
0.06 |
R8749:Arhgap23
|
UTSW |
11 |
97,391,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R8882:Arhgap23
|
UTSW |
11 |
97,355,949 (GRCm39) |
missense |
probably benign |
0.00 |
RF020:Arhgap23
|
UTSW |
11 |
97,354,387 (GRCm39) |
missense |
probably damaging |
1.00 |
V8831:Arhgap23
|
UTSW |
11 |
97,347,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCGTGTGCGTGGGAAAC -3'
(R):5'- TCGCATGGCATGAGATGGTG -3'
Sequencing Primer
(F):5'- AACATGCTGGTGTGGGCAC -3'
(R):5'- ACACGCTACGGTCCATGGTG -3'
|
Posted On |
2022-02-07 |