Incidental Mutation 'R7209:Arhgap23'
| ID |
560949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
045338-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7209 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97366911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1064
(T1064I)
|
| 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: T853I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T853I
| 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: T1064I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T1064I
| 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 damaging
Transcript: ENSMUST00000142465
AA Change: T553I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T553I
| 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 |
0.7153 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
A |
G |
14: 68,767,268 (GRCm39) |
Y61H |
probably damaging |
Het |
| Adgrb1 |
T |
G |
15: 74,441,797 (GRCm39) |
V966G |
possibly damaging |
Het |
| Adh5 |
G |
A |
3: 138,148,909 (GRCm39) |
|
probably benign |
Het |
| Akr1b8 |
T |
C |
6: 34,333,207 (GRCm39) |
V28A |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,215,292 (GRCm39) |
I450F |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,702,955 (GRCm39) |
I128M |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,503,065 (GRCm39) |
I19N |
probably damaging |
Het |
| Bspry |
T |
G |
4: 62,404,852 (GRCm39) |
I216S |
possibly damaging |
Het |
| Commd9 |
T |
A |
2: 101,725,483 (GRCm39) |
S19T |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,851,032 (GRCm39) |
C145R |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,649 (GRCm39) |
L447P |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,519,389 (GRCm39) |
M333T |
possibly damaging |
Het |
| Dhx9 |
T |
C |
1: 153,340,369 (GRCm39) |
T710A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,459,371 (GRCm39) |
V4530A |
possibly damaging |
Het |
| Dohh |
T |
A |
10: 81,221,874 (GRCm39) |
H89Q |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,566,733 (GRCm39) |
N1171K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,451,544 (GRCm39) |
|
probably null |
Het |
| Entpd5 |
T |
A |
12: 84,443,702 (GRCm39) |
S14C |
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,806 (GRCm39) |
S125F |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,084,315 (GRCm39) |
D46E |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,590,077 (GRCm39) |
M48L |
probably benign |
Het |
| Gabrg1 |
C |
A |
5: 70,911,513 (GRCm39) |
C417F |
probably damaging |
Het |
| Glrp1 |
T |
A |
1: 88,431,004 (GRCm39) |
Q122L |
unknown |
Het |
| Gm5622 |
A |
G |
14: 51,893,363 (GRCm39) |
I97V |
possibly damaging |
Het |
| Gusb |
A |
G |
5: 130,027,387 (GRCm39) |
V306A |
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,906,593 (GRCm39) |
S126P |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,292,314 (GRCm39) |
S356G |
possibly damaging |
Het |
| Hydin |
C |
A |
8: 111,216,424 (GRCm39) |
Y1336* |
probably null |
Het |
| Iftap |
T |
C |
2: 101,396,727 (GRCm39) |
*217W |
probably null |
Het |
| Kin |
T |
C |
2: 10,096,564 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,266 (GRCm39) |
V101M |
probably benign |
Het |
| Madcam1 |
A |
T |
10: 79,500,892 (GRCm39) |
T70S |
possibly damaging |
Het |
| Man1a2 |
A |
G |
3: 100,554,395 (GRCm39) |
C112R |
unknown |
Het |
| Mia2 |
T |
A |
12: 59,201,176 (GRCm39) |
V198E |
possibly damaging |
Het |
| Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
| Mtif2 |
G |
A |
11: 29,479,996 (GRCm39) |
V21M |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nln |
G |
A |
13: 104,209,406 (GRCm39) |
Q56* |
probably null |
Het |
| Nlrp4b |
T |
C |
7: 10,444,297 (GRCm39) |
V82A |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,933 (GRCm39) |
E2065* |
probably null |
Het |
| Or10g1 |
A |
G |
14: 52,647,550 (GRCm39) |
C260R |
possibly damaging |
Het |
| Pilrb2 |
C |
T |
5: 137,869,126 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
C |
A |
12: 79,097,150 (GRCm39) |
D99E |
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,491,026 (GRCm39) |
F956I |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,504,947 (GRCm39) |
F20L |
probably benign |
Het |
| Prmt9 |
T |
C |
8: 78,291,627 (GRCm39) |
V333A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,357 (GRCm39) |
S430P |
probably damaging |
Het |
| Relch |
C |
A |
1: 105,678,082 (GRCm39) |
P1136T |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,861,388 (GRCm39) |
V973G |
possibly damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,976,563 (GRCm39) |
|
probably null |
Het |
| S100a6 |
G |
A |
3: 90,521,095 (GRCm39) |
A8T |
possibly damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,745,151 (GRCm39) |
G717V |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,705,003 (GRCm39) |
Y531H |
probably damaging |
Het |
| Slc45a1 |
A |
C |
4: 150,719,669 (GRCm39) |
|
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,106,012 (GRCm39) |
Q110L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,308,948 (GRCm39) |
L743F |
probably damaging |
Het |
| Taar2 |
A |
T |
10: 23,816,597 (GRCm39) |
I46F |
possibly damaging |
Het |
| Tmem241 |
A |
T |
18: 12,237,229 (GRCm39) |
V69D |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,993,074 (GRCm39) |
S535G |
possibly damaging |
Het |
| Trgc3 |
A |
G |
13: 19,445,334 (GRCm39) |
N94S |
probably benign |
Het |
| Ttc34 |
C |
A |
4: 154,923,585 (GRCm39) |
P98Q |
probably damaging |
Het |
| Ubr1 |
C |
A |
2: 120,693,246 (GRCm39) |
R1720L |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,846,478 (GRCm39) |
D1597E |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,091,883 (GRCm39) |
M1930T |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,751,576 (GRCm39) |
I603F |
not run |
Het |
| Vps26b |
A |
T |
9: 26,921,288 (GRCm39) |
S304T |
probably benign |
Het |
| Zfp952 |
A |
T |
17: 33,222,444 (GRCm39) |
T308S |
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 |
|
|
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'- ACCTCTTTGCCCATGTGAG -3'
(R):5'- TTGATGGCAGCCTGTCACTG -3'
Sequencing Primer
(F):5'- GTGAGATGTCTGACCCCACTCTAAG -3'
(R):5'- CAGCCTGTCACTGCTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation