Incidental Mutation 'R7320:Arhgap23'
ID |
568160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
045370-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97342371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 218
(S218P)
|
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 benign
Transcript: ENSMUST00000107601
AA Change: S7P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: S7P
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
AA Change: S218P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: S218P
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: 99.6%
- 20x: 98.8%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,258,471 (GRCm39) |
I458T |
probably benign |
Het |
Adam29 |
A |
G |
8: 56,325,749 (GRCm39) |
I235T |
possibly damaging |
Het |
Afap1 |
G |
A |
5: 36,105,567 (GRCm39) |
V174I |
probably damaging |
Het |
Ak8 |
A |
T |
2: 28,703,004 (GRCm39) |
D456V |
probably damaging |
Het |
Alb |
T |
C |
5: 90,612,846 (GRCm39) |
|
probably null |
Het |
Alox12 |
C |
T |
11: 70,145,298 (GRCm39) |
A92T |
probably benign |
Het |
Blm |
G |
A |
7: 80,105,102 (GRCm39) |
Q1389* |
probably null |
Het |
C1ql4 |
A |
T |
15: 98,985,605 (GRCm39) |
V2E |
unknown |
Het |
Casp12 |
A |
G |
9: 5,348,897 (GRCm39) |
|
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,829,521 (GRCm39) |
I1065F |
possibly damaging |
Het |
Ccdc83 |
C |
T |
7: 89,873,242 (GRCm39) |
G371D |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,763 (GRCm39) |
S416P |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,319,012 (GRCm39) |
C1351S |
probably damaging |
Het |
Clcn4 |
A |
T |
7: 7,294,827 (GRCm39) |
H311Q |
probably benign |
Het |
Cldn13 |
T |
G |
5: 134,943,874 (GRCm39) |
I104L |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,821,835 (GRCm39) |
V1880A |
possibly damaging |
Het |
Ddx17 |
A |
T |
15: 79,416,105 (GRCm39) |
D407E |
probably damaging |
Het |
Ddx28 |
G |
A |
8: 106,737,957 (GRCm39) |
P34S |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,270,616 (GRCm39) |
N973Y |
probably null |
Het |
Dnai4 |
A |
T |
4: 102,907,384 (GRCm39) |
I634N |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,527,421 (GRCm39) |
|
probably null |
Het |
Dock3 |
T |
C |
9: 106,772,723 (GRCm39) |
D510G |
probably benign |
Het |
Dst |
T |
A |
1: 34,230,175 (GRCm39) |
D2589E |
probably benign |
Het |
E2f7 |
T |
C |
10: 110,599,991 (GRCm39) |
Y249H |
not run |
Het |
Eef2kmt |
T |
C |
16: 5,068,373 (GRCm39) |
Y69C |
possibly damaging |
Het |
Elapor1 |
T |
A |
3: 108,371,619 (GRCm39) |
K650* |
probably null |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Exog |
G |
T |
9: 119,291,544 (GRCm39) |
V274L |
possibly damaging |
Het |
Fam83e |
G |
A |
7: 45,371,896 (GRCm39) |
V98M |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,857,745 (GRCm39) |
T2013I |
probably benign |
Het |
Gart |
G |
T |
16: 91,418,569 (GRCm39) |
A970E |
probably benign |
Het |
Gga2 |
T |
A |
7: 121,601,326 (GRCm39) |
H259L |
probably benign |
Het |
Glis3 |
C |
A |
19: 28,508,998 (GRCm39) |
V329F |
probably damaging |
Het |
Gm6356 |
T |
A |
14: 6,972,923 (GRCm38) |
N53I |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,736,313 (GRCm39) |
C1894* |
probably null |
Het |
Ifi203 |
T |
C |
1: 173,756,733 (GRCm39) |
N350S |
unknown |
Het |
Isy1 |
T |
A |
6: 87,810,688 (GRCm39) |
R55S |
unknown |
Het |
Itsn1 |
A |
T |
16: 91,636,587 (GRCm39) |
D678V |
unknown |
Het |
Lhcgr |
T |
A |
17: 89,049,506 (GRCm39) |
R673S |
probably benign |
Het |
Lnx2 |
C |
A |
5: 146,956,943 (GRCm39) |
R601L |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,910,585 (GRCm39) |
T1093A |
probably benign |
Het |
Minar1 |
A |
G |
9: 89,483,679 (GRCm39) |
S573P |
probably benign |
Het |
Mink1 |
A |
G |
11: 70,489,899 (GRCm39) |
K92E |
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,177,363 (GRCm39) |
I560V |
probably benign |
Het |
Mrc2 |
C |
A |
11: 105,220,061 (GRCm39) |
D327E |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,038,643 (GRCm39) |
E1262G |
possibly damaging |
Het |
Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,476,297 (GRCm39) |
L15S |
probably benign |
Het |
Or52d3 |
C |
A |
7: 104,229,645 (GRCm39) |
S264* |
probably null |
Het |
Or5an1 |
G |
A |
19: 12,261,180 (GRCm39) |
G256D |
possibly damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,544 (GRCm39) |
M279K |
possibly damaging |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Or5m13 |
A |
T |
2: 85,748,718 (GRCm39) |
I150F |
probably benign |
Het |
Or6c5b |
A |
T |
10: 129,245,654 (GRCm39) |
T140S |
possibly damaging |
Het |
Pcbp2 |
T |
A |
15: 102,381,782 (GRCm39) |
V5E |
probably damaging |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pgghg |
A |
T |
7: 140,522,953 (GRCm39) |
Y104F |
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,173,193 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
C |
T |
6: 146,879,551 (GRCm39) |
A25V |
probably damaging |
Het |
Ptgfr |
C |
T |
3: 151,541,034 (GRCm39) |
G158D |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,978,446 (GRCm39) |
F186S |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,564,956 (GRCm39) |
E181G |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,368,673 (GRCm39) |
K291E |
possibly damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,085,122 (GRCm39) |
|
probably null |
Het |
Sema3b |
T |
A |
9: 107,478,141 (GRCm39) |
M415L |
probably benign |
Het |
Sh3bp4 |
A |
G |
1: 89,073,216 (GRCm39) |
E688G |
probably damaging |
Het |
Slco6c1 |
G |
A |
1: 97,055,887 (GRCm39) |
R5C |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,181,227 (GRCm39) |
F369L |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,361,894 (GRCm39) |
N181S |
possibly damaging |
Het |
Sqor |
A |
G |
2: 122,641,730 (GRCm39) |
T235A |
probably benign |
Het |
St13 |
A |
G |
15: 81,273,854 (GRCm39) |
L80P |
probably damaging |
Het |
St3gal6 |
A |
G |
16: 58,314,074 (GRCm39) |
Y20H |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,234,239 (GRCm39) |
Y899D |
probably damaging |
Het |
Synm |
C |
T |
7: 67,385,128 (GRCm39) |
E845K |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,566,633 (GRCm39) |
D1227V |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,438 (GRCm39) |
N306D |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,414,357 (GRCm39) |
N51Y |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,265,505 (GRCm39) |
D856G |
probably benign |
Het |
Vil1 |
G |
A |
1: 74,457,603 (GRCm39) |
A79T |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,746,271 (GRCm39) |
H37L |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,816,316 (GRCm39) |
M69K |
probably benign |
Het |
Ywhaq |
A |
G |
12: 21,444,982 (GRCm39) |
L221P |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,167 (GRCm39) |
Q1543* |
probably null |
Het |
Zfp384 |
T |
A |
6: 125,001,793 (GRCm39) |
M146K |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATCTGAGTCCGGTCTG -3'
(R):5'- GATTGGACAGCCAGTGTGAC -3'
Sequencing Primer
(F):5'- ATCTGAGTCCGGTCTGCTCATG -3'
(R):5'- AGTGTGACAGAGCCTGCTG -3'
|
Posted On |
2019-06-26 |