Incidental Mutation 'R1855:Arhgap23'
ID |
206045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
039879-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1855 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97339523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 163
(I163T)
|
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
|
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 damaging
Transcript: ENSMUST00000121799
AA Change: I163T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: I163T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152933
|
Meta Mutation Damage Score |
0.1111 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
97% (72/74) |
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 |
A830018L16Rik |
T |
A |
1: 11,818,195 (GRCm39) |
L285Q |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,262,380 (GRCm39) |
L1994P |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,878,350 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,385 (GRCm39) |
E574G |
probably benign |
Het |
Ankrd1 |
T |
C |
19: 36,096,635 (GRCm39) |
K64R |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,494,018 (GRCm39) |
Q151L |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
C1s1 |
A |
C |
6: 124,511,315 (GRCm39) |
|
probably null |
Het |
Ccdc150 |
T |
C |
1: 54,407,069 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,110,351 (GRCm39) |
I311N |
probably damaging |
Het |
Chad |
T |
A |
11: 94,456,303 (GRCm39) |
L127H |
probably damaging |
Het |
Clasp1 |
G |
A |
1: 118,436,624 (GRCm39) |
A303T |
probably damaging |
Het |
Clptm1 |
A |
G |
7: 19,372,134 (GRCm39) |
V234A |
probably benign |
Het |
Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
Col24a1 |
G |
A |
3: 145,164,895 (GRCm39) |
G1033D |
probably damaging |
Het |
Csnk1a1 |
T |
A |
18: 61,708,498 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,378,412 (GRCm39) |
I1475L |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,411,815 (GRCm39) |
V3728A |
possibly damaging |
Het |
Dock9 |
C |
A |
14: 121,877,571 (GRCm39) |
V391F |
probably damaging |
Het |
Ehmt2 |
A |
T |
17: 35,129,752 (GRCm39) |
I949F |
probably damaging |
Het |
Eif4g1 |
C |
A |
16: 20,505,911 (GRCm39) |
T1025K |
possibly damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,943,295 (GRCm39) |
M423L |
probably damaging |
Het |
Etnppl |
A |
T |
3: 130,414,371 (GRCm39) |
I89F |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbln7 |
A |
G |
2: 128,735,755 (GRCm39) |
T248A |
possibly damaging |
Het |
Galnt9 |
C |
T |
5: 110,763,390 (GRCm39) |
T465M |
probably damaging |
Het |
Grcc10 |
A |
G |
6: 124,717,541 (GRCm39) |
V57A |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,298,708 (GRCm39) |
M614K |
possibly damaging |
Het |
Itch |
C |
T |
2: 155,014,374 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,298,112 (GRCm39) |
A167S |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,106,590 (GRCm39) |
R1348C |
probably damaging |
Het |
Kif17 |
T |
C |
4: 138,015,582 (GRCm39) |
L577P |
probably benign |
Het |
Krt25 |
A |
T |
11: 99,209,141 (GRCm39) |
L258Q |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,281,218 (GRCm39) |
T356A |
probably benign |
Het |
Mical2 |
G |
A |
7: 111,944,489 (GRCm39) |
A940T |
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,914,667 (GRCm39) |
E81G |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,509 (GRCm39) |
V447A |
probably benign |
Het |
Mtor |
C |
A |
4: 148,637,546 (GRCm39) |
N2502K |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,799,936 (GRCm39) |
D966N |
probably benign |
Het |
Oip5 |
C |
A |
2: 119,442,271 (GRCm39) |
K214N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,266 (GRCm39) |
F103Y |
possibly damaging |
Het |
Pabir2 |
T |
A |
X: 52,342,933 (GRCm39) |
Q201H |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,929,429 (GRCm39) |
S585T |
probably benign |
Het |
Pard3 |
T |
A |
8: 128,174,293 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,534,735 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,492,556 (GRCm39) |
Y939C |
possibly damaging |
Het |
Pde1a |
A |
G |
2: 79,728,408 (GRCm39) |
|
probably null |
Het |
Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,297,957 (GRCm39) |
T1562K |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,352,802 (GRCm39) |
M115K |
probably damaging |
Het |
Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,754,993 (GRCm39) |
W85R |
probably damaging |
Het |
Rnf123 |
C |
A |
9: 107,938,990 (GRCm39) |
R826L |
probably damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,805,699 (GRCm39) |
D150G |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,319,159 (GRCm39) |
|
probably benign |
Het |
Spata22 |
A |
G |
11: 73,231,385 (GRCm39) |
D213G |
probably benign |
Het |
St6galnac2 |
T |
A |
11: 116,581,141 (GRCm39) |
R60S |
probably benign |
Het |
Stk32c |
A |
G |
7: 138,701,363 (GRCm39) |
F263S |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,123,366 (GRCm39) |
I104V |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,437,702 (GRCm39) |
E158G |
possibly damaging |
Het |
Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
Trim25 |
C |
T |
11: 88,906,407 (GRCm39) |
T410I |
probably benign |
Het |
Usp18 |
T |
A |
6: 121,239,076 (GRCm39) |
C212S |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,588 (GRCm39) |
Y169C |
probably damaging |
Het |
Wdr33 |
A |
T |
18: 32,039,909 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,159,002 (GRCm39) |
Y597H |
probably benign |
Het |
Yy1 |
CGGG |
CGGGGGGGGG |
12: 108,759,916 (GRCm39) |
|
probably benign |
Het |
Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
Zfp566 |
T |
G |
7: 29,777,927 (GRCm39) |
S85R |
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 |
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'- TCCCAGGTCATAGGTCTGATC -3'
(R):5'- ATCCTGCTTACCAAGGCCAG -3'
Sequencing Primer
(F):5'- TCTGATCCAGAACAGGTGAGTGTC -3'
(R):5'- AGGCCAGCACCTCCTCTC -3'
|
Posted On |
2014-06-23 |