Incidental Mutation 'IGL02309:Arhgap23'
| ID |
287760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 97356827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107601
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
| 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 benign
Transcript: ENSMUST00000121799
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,193,125 (GRCm39) |
F111S |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,374 (GRCm39) |
V98F |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,353,210 (GRCm39) |
D191E |
possibly damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,629 (GRCm39) |
K354E |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,078,979 (GRCm39) |
M323K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,048,622 (GRCm39) |
Y30H |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,510 (GRCm39) |
H1173Q |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,327 (GRCm39) |
R2472H |
probably damaging |
Het |
| Clip1 |
T |
A |
5: 123,755,763 (GRCm39) |
H950L |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,660 (GRCm39) |
T222S |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,829 (GRCm39) |
N273Y |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,839,304 (GRCm39) |
S214T |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,284 (GRCm39) |
M318K |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,790,351 (GRCm39) |
D1E |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,480,928 (GRCm39) |
T443I |
probably benign |
Het |
| Gm2381 |
C |
T |
7: 42,472,033 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,975 (GRCm39) |
I178F |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,713,470 (GRCm39) |
E804K |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,465,812 (GRCm39) |
L421P |
probably damaging |
Het |
| Haghl |
T |
G |
17: 26,003,638 (GRCm39) |
H56P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,893,700 (GRCm39) |
L489P |
probably damaging |
Het |
| Ighv6-6 |
A |
T |
12: 114,398,534 (GRCm39) |
H77Q |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,085,883 (GRCm39) |
S243P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,616 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,880 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,091,385 (GRCm39) |
Q308R |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,361,491 (GRCm39) |
E223K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,310,352 (GRCm39) |
F407L |
probably damaging |
Het |
| Mndal |
C |
T |
1: 173,702,021 (GRCm39) |
G94R |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,175 (GRCm39) |
N101S |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,234,705 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,206 (GRCm39) |
I293K |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,729 (GRCm39) |
N52S |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,348 (GRCm39) |
N294D |
probably damaging |
Het |
| Pknox1 |
T |
G |
17: 31,809,683 (GRCm39) |
F96V |
probably benign |
Het |
| Psg25 |
T |
G |
7: 18,260,349 (GRCm39) |
Q183P |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,307 (GRCm39) |
Y530C |
probably damaging |
Het |
| Sema3e |
T |
A |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,266 (GRCm39) |
G46R |
unknown |
Het |
| Sidt1 |
T |
C |
16: 44,075,343 (GRCm39) |
I672V |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,275,166 (GRCm39) |
T238A |
possibly damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,618,007 (GRCm39) |
S486T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,750,898 (GRCm39) |
H340R |
probably benign |
Het |
| Smoc2 |
C |
A |
17: 14,595,789 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,801 (GRCm39) |
Y102C |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,821,744 (GRCm39) |
R20G |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,466 (GRCm39) |
|
noncoding transcript |
Het |
| Trim12c |
T |
A |
7: 103,994,163 (GRCm39) |
E230D |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,173,006 (GRCm39) |
N796K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,443 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
A |
T |
11: 44,349,155 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,021,026 (GRCm39) |
T11M |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,113 (GRCm39) |
M95K |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,466,820 (GRCm39) |
T1160A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation