Incidental Mutation 'R8692:Arhgap23'
| ID |
668456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
068546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8692 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 97345322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 657
(T657K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107601
AA Change: T446K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T446K
| 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 |
probably damaging
Transcript: ENSMUST00000121799
AA Change: T657K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T657K
| 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 |
possibly damaging
Transcript: ENSMUST00000142465
AA Change: T146K
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T146K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,327,874 (GRCm39) |
I1402S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,032,409 (GRCm39) |
D736G |
probably benign |
Het |
| Acy1 |
T |
C |
9: 106,310,377 (GRCm39) |
E377G |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,058,270 (GRCm39) |
V2251M |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,587,410 (GRCm39) |
K129R |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,875,793 (GRCm39) |
F259I |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,162,083 (GRCm39) |
N307S |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,423,769 (GRCm39) |
V143M |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,444 (GRCm39) |
I561K |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,472,175 (GRCm39) |
S3531A |
probably benign |
Het |
| Dnajc14 |
T |
A |
10: 128,642,900 (GRCm39) |
I274N |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,853,077 (GRCm39) |
L48S |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,242,549 (GRCm39) |
I115N |
probably damaging |
Het |
| Ermp1 |
T |
A |
19: 29,594,093 (GRCm39) |
L692F |
probably benign |
Het |
| Fcho2 |
GT |
G |
13: 98,882,382 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,615,722 (GRCm39) |
C536S |
probably benign |
Het |
| Fermt2 |
A |
T |
14: 45,742,099 (GRCm39) |
C82* |
probably null |
Het |
| Gabra6 |
G |
T |
11: 42,210,537 (GRCm39) |
D61E |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,690,140 (GRCm39) |
S611T |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
G |
A |
18: 9,726,336 (GRCm39) |
A112V |
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,472,071 (GRCm39) |
L2Q |
probably damaging |
Het |
| Hif3a |
A |
T |
7: 16,788,701 (GRCm39) |
L90Q |
probably benign |
Het |
| Irf3 |
C |
T |
7: 44,649,889 (GRCm39) |
Q168* |
probably null |
Het |
| Krt82 |
T |
G |
15: 101,456,828 (GRCm39) |
D184A |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,594,445 (GRCm39) |
S28P |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,752,443 (GRCm39) |
N197K |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,199,587 (GRCm39) |
D243G |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,450,875 (GRCm39) |
W299R |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,792,050 (GRCm39) |
R862L |
possibly damaging |
Het |
| Nasp |
T |
A |
4: 116,469,280 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,414,049 (GRCm39) |
I1073T |
probably damaging |
Het |
| Nek2 |
A |
T |
1: 191,554,745 (GRCm39) |
K152N |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,960 (GRCm39) |
E68G |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,096 (GRCm39) |
I13F |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,595 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,955,228 (GRCm39) |
I361N |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,289,805 (GRCm39) |
S875T |
possibly damaging |
Het |
| Pde7b |
G |
T |
10: 20,423,639 (GRCm39) |
P79Q |
probably benign |
Het |
| Phb2 |
G |
A |
6: 124,692,097 (GRCm39) |
A228T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,225,971 (GRCm39) |
C888* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,462,374 (GRCm39) |
L2060Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,052 (GRCm39) |
M496V |
probably benign |
Het |
| Ppfibp1 |
C |
T |
6: 146,892,013 (GRCm39) |
T91I |
probably benign |
Het |
| Ppp1r9b |
T |
C |
11: 94,891,077 (GRCm39) |
L557P |
probably damaging |
Het |
| Ppp2r5c |
G |
T |
12: 110,489,032 (GRCm39) |
V68L |
probably benign |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,115,353 (GRCm39) |
T745I |
probably damaging |
Het |
| Rnf144a |
G |
A |
12: 26,370,972 (GRCm39) |
T163I |
probably benign |
Het |
| Sbsn |
A |
T |
7: 30,451,522 (GRCm39) |
H179L |
unknown |
Het |
| Simc1 |
G |
A |
13: 54,673,193 (GRCm39) |
V514I |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,047,051 (GRCm39) |
M249T |
|
Het |
| Slfn4 |
T |
A |
11: 83,079,709 (GRCm39) |
H466Q |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,808,794 (GRCm39) |
C172S |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,673,989 (GRCm39) |
I1698T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tiam2 |
A |
C |
17: 3,479,082 (GRCm39) |
D605A |
probably damaging |
Het |
| Tmed4 |
A |
T |
11: 6,223,822 (GRCm39) |
D151E |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,794,465 (GRCm39) |
I211F |
possibly damaging |
Het |
| Ttpa |
A |
G |
4: 20,008,585 (GRCm39) |
D49G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,379,325 (GRCm39) |
T1991I |
|
Het |
| Vash1 |
G |
A |
12: 86,735,863 (GRCm39) |
V250M |
possibly damaging |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,809 (GRCm39) |
*368Q |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,972 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,557 (GRCm39) |
F203L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,319,514 (GRCm39) |
Q489K |
probably benign |
Het |
| Vmn2r-ps158 |
G |
T |
7: 42,697,108 (GRCm39) |
A722S |
probably benign |
Het |
| Zfp385b |
A |
T |
2: 77,549,971 (GRCm39) |
V38E |
probably damaging |
Het |
| Zfp820 |
A |
G |
17: 22,037,876 (GRCm39) |
I484T |
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 |
|
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 |
|
R9188:Arhgap23
|
UTSW |
11 |
97,390,983 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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'- ATGGACTGAACACCTTCCGG -3'
(R):5'- AGATGTGTAGGGCTACCACC -3'
Sequencing Primer
(F):5'- ACTGAACACCTTCCGGGATGAG -3'
(R):5'- CCTTCTAGAGGCAGACAGACAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation