Incidental Mutation 'R0497:Arhgap23'
ID |
40554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
038693-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0497 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97342989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 424
(S424G)
|
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: S213G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: S213G
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: S424G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: S424G
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 |
|
Meta Mutation Damage Score |
0.0867 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
100% (68/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
C |
11: 119,909,606 (GRCm39) |
V110G |
probably damaging |
Het |
Adcy6 |
A |
C |
15: 98,495,606 (GRCm39) |
|
probably null |
Het |
Adm |
A |
G |
7: 110,228,328 (GRCm39) |
T170A |
probably benign |
Het |
Afap1l2 |
G |
T |
19: 56,918,641 (GRCm39) |
N171K |
probably benign |
Het |
Aph1b |
G |
T |
9: 66,697,900 (GRCm39) |
S112* |
probably null |
Het |
Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
Braf |
G |
A |
6: 39,617,483 (GRCm39) |
|
probably benign |
Het |
Brd2 |
C |
T |
17: 34,333,334 (GRCm39) |
R47Q |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,957,819 (GRCm39) |
V972A |
probably benign |
Het |
Car9 |
T |
A |
4: 43,511,881 (GRCm39) |
L300H |
probably damaging |
Het |
Chmp3 |
T |
C |
6: 71,529,395 (GRCm39) |
S20P |
probably damaging |
Het |
Chp1 |
A |
G |
2: 119,402,263 (GRCm39) |
N79S |
possibly damaging |
Het |
Cnot2 |
A |
T |
10: 116,334,260 (GRCm39) |
I335N |
probably damaging |
Het |
Cntnap4 |
T |
C |
8: 113,296,783 (GRCm39) |
V6A |
probably benign |
Het |
Ctcf |
T |
A |
8: 106,401,672 (GRCm39) |
|
probably benign |
Het |
Dennd1b |
A |
G |
1: 138,967,724 (GRCm39) |
|
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,845,079 (GRCm39) |
|
probably benign |
Het |
Eef2 |
T |
C |
10: 81,017,420 (GRCm39) |
F782L |
probably benign |
Het |
Eogt |
T |
A |
6: 97,112,194 (GRCm39) |
Y153F |
probably benign |
Het |
Fam81a |
G |
T |
9: 70,003,401 (GRCm39) |
Q237K |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,174,228 (GRCm39) |
T2162S |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,890 (GRCm39) |
C1158S |
probably damaging |
Het |
Gas6 |
T |
C |
8: 13,520,387 (GRCm39) |
I434V |
possibly damaging |
Het |
Gm42417 |
A |
T |
1: 36,571,248 (GRCm39) |
L77Q |
probably damaging |
Het |
Grik3 |
A |
T |
4: 125,517,303 (GRCm39) |
N49Y |
possibly damaging |
Het |
Gucy2e |
A |
T |
11: 69,114,985 (GRCm39) |
V974E |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,871,449 (GRCm39) |
V2721A |
probably damaging |
Het |
Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
Krt73 |
A |
G |
15: 101,710,665 (GRCm39) |
L23P |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,158,772 (GRCm39) |
|
probably benign |
Het |
Lrrc15 |
A |
T |
16: 30,091,710 (GRCm39) |
V543E |
probably damaging |
Het |
Med13 |
G |
A |
11: 86,167,809 (GRCm39) |
|
probably benign |
Het |
Med25 |
T |
C |
7: 44,541,524 (GRCm39) |
D60G |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,641,826 (GRCm39) |
Y560N |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,054,505 (GRCm39) |
Y211H |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,978,493 (GRCm39) |
N289S |
probably benign |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Omt2b |
T |
C |
9: 78,235,513 (GRCm39) |
|
probably benign |
Het |
Or4k37 |
A |
G |
2: 111,159,175 (GRCm39) |
D137G |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,177,094 (GRCm39) |
L652P |
probably damaging |
Het |
Pard3b |
T |
A |
1: 62,479,167 (GRCm39) |
|
probably null |
Het |
Prdm15 |
G |
A |
16: 97,595,534 (GRCm39) |
T1098I |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,004,954 (GRCm39) |
T436A |
probably benign |
Het |
Sema4c |
A |
T |
1: 36,588,689 (GRCm39) |
D812E |
probably benign |
Het |
Sla |
A |
T |
15: 66,664,098 (GRCm39) |
I91K |
probably benign |
Het |
Slc22a16 |
T |
G |
10: 40,460,963 (GRCm39) |
M255R |
probably damaging |
Het |
Slc49a4 |
A |
T |
16: 35,555,974 (GRCm39) |
V162D |
probably benign |
Het |
Smg8 |
C |
T |
11: 86,976,910 (GRCm39) |
D224N |
possibly damaging |
Het |
Spdef |
A |
T |
17: 27,937,032 (GRCm39) |
D190E |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,464,630 (GRCm39) |
I152T |
probably damaging |
Het |
Tmem220 |
A |
G |
11: 66,916,748 (GRCm39) |
D36G |
probably damaging |
Het |
Tmem235 |
A |
C |
11: 117,755,177 (GRCm39) |
I210L |
probably benign |
Het |
Tmem266 |
C |
T |
9: 55,288,168 (GRCm39) |
|
probably null |
Het |
Tmprss12 |
A |
G |
15: 100,178,920 (GRCm39) |
|
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Usp38 |
T |
A |
8: 81,711,053 (GRCm39) |
|
probably benign |
Het |
Usp44 |
C |
T |
10: 93,682,668 (GRCm39) |
P373S |
possibly damaging |
Het |
Vmn1r209 |
G |
T |
13: 22,990,118 (GRCm39) |
Q191K |
probably damaging |
Het |
Vmn1r70 |
T |
C |
7: 10,367,953 (GRCm39) |
I147T |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,595,394 (GRCm39) |
I649N |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,239,755 (GRCm39) |
Y269* |
probably null |
Het |
Zan |
C |
T |
5: 137,410,938 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
G |
T |
11: 73,974,306 (GRCm39) |
V192L |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,378,299 (GRCm39) |
|
probably benign |
Het |
Zhx3 |
A |
T |
2: 160,621,914 (GRCm39) |
L751* |
probably null |
Het |
Znfx1 |
T |
A |
2: 166,897,331 (GRCm39) |
Q531L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCAATCAGATACCCCGCAGAG -3'
(R):5'- TCACCAAATCCAAGGTTCATCTGCC -3'
Sequencing Primer
(F):5'- TTGGAGGATGTGACTACCCAC -3'
(R):5'- ATCACGATGATCCTCTGCG -3'
|
Posted On |
2013-05-23 |