Incidental Mutation 'R7599:Arhgap23'
ID |
587920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
045673-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7599 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97391169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1229
(T1229A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(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 |
probably benign
Transcript: ENSMUST00000093940
AA Change: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091472 Gene: ENSMUSG00000049807 AA Change: T66A
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 |
probably benign
Transcript: ENSMUST00000107601
AA Change: T1018A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: T1018A
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: T1229A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: T1229A
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: 99.7%
- 20x: 99.1%
|
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 |
Adamts3 |
T |
C |
5: 90,009,256 (GRCm39) |
S136G |
probably benign |
Het |
Apba3 |
T |
A |
10: 81,108,180 (GRCm39) |
N445K |
probably damaging |
Het |
Aqp6 |
A |
G |
15: 99,501,652 (GRCm39) |
K237E |
possibly damaging |
Het |
Bpifb1 |
T |
C |
2: 154,056,071 (GRCm39) |
I379T |
probably damaging |
Het |
Bpnt2 |
G |
A |
4: 4,778,207 (GRCm39) |
T177I |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,047,530 (GRCm39) |
D7G |
probably damaging |
Het |
Cyp2f2 |
T |
A |
7: 26,830,784 (GRCm39) |
|
probably null |
Het |
Daam2 |
T |
A |
17: 49,787,755 (GRCm39) |
K453* |
probably null |
Het |
Dennd4c |
T |
C |
4: 86,729,849 (GRCm39) |
L817P |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,755,189 (GRCm39) |
R1376W |
probably damaging |
Het |
Esrra |
G |
T |
19: 6,891,214 (GRCm39) |
A182E |
possibly damaging |
Het |
Fam234b |
T |
A |
6: 135,203,874 (GRCm39) |
V392E |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,997,999 (GRCm39) |
V1229A |
probably benign |
Het |
Fdps |
G |
T |
3: 89,006,693 (GRCm39) |
Q66K |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,499,438 (GRCm39) |
D1269E |
probably benign |
Het |
Foxred1 |
G |
A |
9: 35,116,932 (GRCm39) |
R353W |
probably damaging |
Het |
Gabrg2 |
C |
T |
11: 41,858,451 (GRCm39) |
V226I |
possibly damaging |
Het |
Gcnt2 |
C |
A |
13: 41,014,343 (GRCm39) |
C171* |
probably null |
Het |
Glyat |
C |
A |
19: 12,617,172 (GRCm39) |
A8E |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,695,758 (GRCm39) |
R86S |
unknown |
Het |
Hc |
T |
A |
2: 34,940,431 (GRCm39) |
T136S |
probably damaging |
Het |
Hdac1 |
G |
T |
4: 129,411,259 (GRCm39) |
S421* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,246,298 (GRCm39) |
A756S |
possibly damaging |
Het |
Igkv8-26 |
A |
G |
6: 70,170,571 (GRCm39) |
N54S |
probably benign |
Het |
Itgae |
T |
A |
11: 73,012,786 (GRCm39) |
V706E |
possibly damaging |
Het |
Itgax |
G |
A |
7: 127,747,262 (GRCm39) |
V992M |
probably damaging |
Het |
Klk10 |
A |
G |
7: 43,433,851 (GRCm39) |
D221G |
probably benign |
Het |
Klkb1 |
T |
C |
8: 45,731,150 (GRCm39) |
I205V |
probably benign |
Het |
Kpna2 |
T |
C |
11: 106,889,583 (GRCm39) |
N8S |
probably null |
Het |
L3mbtl1 |
A |
C |
2: 162,806,434 (GRCm39) |
T442P |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,551,561 (GRCm39) |
C4181Y |
|
Het |
Mcat |
T |
C |
15: 83,431,872 (GRCm39) |
Y332C |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,010,534 (GRCm39) |
D648G |
probably damaging |
Het |
Mesp2 |
A |
T |
7: 79,460,717 (GRCm39) |
D14V |
probably damaging |
Het |
Mlh3 |
A |
T |
12: 85,314,973 (GRCm39) |
Y404* |
probably null |
Het |
Mterf3 |
A |
T |
13: 67,065,212 (GRCm39) |
F230I |
probably damaging |
Het |
Nrxn3 |
T |
C |
12: 89,478,832 (GRCm39) |
V602A |
probably benign |
Het |
Or4a74 |
T |
A |
2: 89,439,571 (GRCm39) |
I292F |
possibly damaging |
Het |
Plekhg6 |
A |
G |
6: 125,351,623 (GRCm39) |
F209L |
probably damaging |
Het |
Pmp22 |
C |
A |
11: 63,049,174 (GRCm39) |
A139D |
probably damaging |
Het |
Polr2e |
T |
C |
10: 79,874,404 (GRCm39) |
D34G |
possibly damaging |
Het |
Ppard |
T |
A |
17: 28,516,091 (GRCm39) |
L105H |
probably damaging |
Het |
Ptpn14 |
T |
A |
1: 189,582,942 (GRCm39) |
D596E |
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,002,518 (GRCm39) |
A1536V |
not run |
Het |
Qng1 |
T |
A |
13: 58,529,649 (GRCm39) |
H321L |
probably damaging |
Het |
Rabgap1 |
TGGGG |
TGGG |
2: 37,392,908 (GRCm39) |
|
probably null |
Het |
Retreg1 |
T |
A |
15: 25,971,727 (GRCm39) |
D222E |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,363,404 (GRCm39) |
K282R |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sall3 |
C |
T |
18: 81,015,267 (GRCm39) |
R887H |
possibly damaging |
Het |
Samd3 |
A |
G |
10: 26,139,711 (GRCm39) |
D281G |
probably benign |
Het |
Scube1 |
T |
A |
15: 83,497,653 (GRCm39) |
D766V |
probably damaging |
Het |
Sec24b |
TGC |
TGCAGC |
3: 129,834,460 (GRCm39) |
|
probably benign |
Het |
Slc2a2 |
A |
G |
3: 28,752,166 (GRCm39) |
M1V |
probably null |
Het |
Slc39a2 |
A |
T |
14: 52,132,488 (GRCm39) |
T144S |
probably benign |
Het |
Slc5a9 |
T |
C |
4: 111,734,937 (GRCm39) |
H619R |
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,113,048 (GRCm39) |
F427L |
probably benign |
Het |
Snapc3 |
C |
A |
4: 83,336,073 (GRCm39) |
Y28* |
probably null |
Het |
St3gal6 |
C |
T |
16: 58,293,800 (GRCm39) |
R243H |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,066 (GRCm39) |
N119K |
possibly damaging |
Het |
Syne2 |
G |
C |
12: 76,013,145 (GRCm39) |
V2779L |
probably benign |
Het |
Tacc1 |
T |
A |
8: 25,691,301 (GRCm39) |
M1L |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,027,929 (GRCm39) |
F724L |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,533,766 (GRCm39) |
I259T |
possibly damaging |
Het |
Ucn2 |
T |
C |
9: 108,815,292 (GRCm39) |
I18T |
probably benign |
Het |
Wdr35 |
G |
C |
12: 9,074,886 (GRCm39) |
A1000P |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,906,789 (GRCm39) |
C244F |
possibly damaging |
Het |
Zeb2 |
T |
G |
2: 44,884,625 (GRCm39) |
D1022A |
probably damaging |
Het |
Zfp26 |
A |
T |
9: 20,349,129 (GRCm39) |
H478Q |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,378,630 (GRCm39) |
K265R |
probably benign |
Het |
Zfp575 |
T |
C |
7: 24,286,093 (GRCm39) |
D21G |
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 |
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'- GATGCTGGCGATCTCCTTCATC -3'
(R):5'- TCGCATGGCATGAGATGGTG -3'
Sequencing Primer
(F):5'- TTCATCTCTGCGGTCAACC -3'
(R):5'- TGTGAGCTGAAGGATGGCC -3'
|
Posted On |
2019-10-24 |