Incidental Mutation 'R8460:Arhgap23'
ID |
655230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
067905-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8460 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97343197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 493
(V493D)
|
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: V282D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: V282D
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: V493D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: V493D
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
6030458C11Rik |
T |
C |
15: 12,818,545 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,154,381 (GRCm39) |
M62V |
possibly damaging |
Het |
Adgrf5 |
C |
A |
17: 43,750,699 (GRCm39) |
|
probably benign |
Het |
Atg9b |
T |
C |
5: 24,591,966 (GRCm39) |
K678E |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Cd180 |
T |
C |
13: 102,839,354 (GRCm39) |
L79P |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,304,093 (GRCm39) |
S2350N |
possibly damaging |
Het |
Cep85l |
C |
A |
10: 53,225,313 (GRCm39) |
R92L |
probably benign |
Het |
Cyp21a1 |
T |
C |
17: 35,021,844 (GRCm39) |
D241G |
probably benign |
Het |
Dock2 |
C |
A |
11: 34,180,825 (GRCm39) |
|
probably null |
Het |
Fam163a |
A |
G |
1: 155,955,712 (GRCm39) |
Y27H |
probably damaging |
Het |
Gmnc |
G |
A |
16: 26,779,204 (GRCm39) |
L274F |
probably benign |
Het |
Gpc2 |
A |
T |
5: 138,274,891 (GRCm39) |
C283S |
probably damaging |
Het |
Grm5 |
A |
G |
7: 87,252,249 (GRCm39) |
I166M |
probably damaging |
Het |
Ighv3-1 |
A |
T |
12: 113,928,056 (GRCm39) |
L101* |
probably null |
Het |
Impact |
C |
T |
18: 13,109,564 (GRCm39) |
S86L |
probably benign |
Het |
Kif1b |
C |
T |
4: 149,272,077 (GRCm39) |
V1575I |
possibly damaging |
Het |
Klhl6 |
A |
G |
16: 19,775,781 (GRCm39) |
V259A |
probably damaging |
Het |
Krt81 |
G |
T |
15: 101,361,493 (GRCm39) |
A29E |
probably damaging |
Het |
Ldah |
A |
G |
12: 8,318,548 (GRCm39) |
N219S |
probably benign |
Het |
Map3k12 |
C |
T |
15: 102,410,032 (GRCm39) |
R581Q |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,681,040 (GRCm39) |
D285G |
probably benign |
Het |
Mcpt2 |
A |
G |
14: 56,281,201 (GRCm39) |
D135G |
possibly damaging |
Het |
Megf6 |
T |
A |
4: 154,350,634 (GRCm39) |
C1048* |
probably null |
Het |
Megf9 |
A |
T |
4: 70,374,208 (GRCm39) |
V276D |
probably damaging |
Het |
Nfya |
T |
C |
17: 48,698,974 (GRCm39) |
H273R |
possibly damaging |
Het |
Olah |
T |
A |
2: 3,362,762 (GRCm39) |
Q21H |
probably damaging |
Het |
Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,531 (GRCm39) |
C286* |
probably null |
Het |
Or7g21 |
T |
C |
9: 19,032,988 (GRCm39) |
S243P |
probably damaging |
Het |
Or8b47 |
A |
T |
9: 38,427,926 (GRCm39) |
|
probably benign |
Het |
Or8k23 |
T |
G |
2: 86,186,198 (GRCm39) |
H176P |
probably damaging |
Het |
Or9s23 |
T |
A |
1: 92,501,268 (GRCm39) |
M125K |
probably damaging |
Het |
Pcdhgb6 |
T |
A |
18: 37,877,278 (GRCm39) |
L662Q |
possibly damaging |
Het |
Pou4f3 |
T |
C |
18: 42,529,053 (GRCm39) |
M332T |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,798,424 (GRCm39) |
P132S |
probably benign |
Het |
Pramel58 |
T |
A |
5: 94,831,790 (GRCm39) |
C266S |
probably benign |
Het |
Prg4 |
G |
A |
1: 150,331,692 (GRCm39) |
S327L |
possibly damaging |
Het |
Rdh5 |
C |
T |
10: 128,754,136 (GRCm39) |
R99H |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,383,292 (GRCm39) |
F263L |
unknown |
Het |
Setd2 |
A |
G |
9: 110,423,338 (GRCm39) |
N353S |
|
Het |
Sh3gl1 |
T |
C |
17: 56,326,321 (GRCm39) |
N109S |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,107,705 (GRCm39) |
Y188* |
probably null |
Het |
Slc25a13 |
A |
T |
6: 6,073,513 (GRCm39) |
N448K |
probably damaging |
Het |
Slc44a5 |
G |
A |
3: 153,975,667 (GRCm39) |
V693M |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,503,968 (GRCm39) |
S206P |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,476 (GRCm39) |
I198F |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,897,009 (GRCm39) |
|
probably benign |
Het |
Vps33b |
T |
C |
7: 79,937,617 (GRCm39) |
V455A |
probably benign |
Het |
Zdbf2 |
CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG |
CGCTCCGTGCCCCCCGCG |
1: 63,348,729 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
A |
T |
9: 20,348,373 (GRCm39) |
H730Q |
probably damaging |
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 |
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 |
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'- TATAGCCCATCATTCCAGCGC -3'
(R):5'- TAGCCAGCCACTTGTAACAC -3'
Sequencing Primer
(F):5'- ATCATTCCAGCGCCGGACTG -3'
(R):5'- TTGTAACACCACTCACCAATAAAGGG -3'
|
Posted On |
2020-10-20 |