Incidental Mutation 'IGL02135:Arhgap23'
| ID |
281296 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97342528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 270
(R270L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107601
AA Change: R59L
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: R59L
| 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: R270L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: R270L
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,205 (GRCm39) |
H1034R |
possibly damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,498 (GRCm39) |
R141Q |
probably benign |
Het |
| App |
A |
G |
16: 84,876,726 (GRCm39) |
|
probably null |
Het |
| Arhgap36 |
T |
C |
X: 48,586,066 (GRCm39) |
I342T |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,883,461 (GRCm39) |
M1356K |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,011,386 (GRCm39) |
K107R |
probably damaging |
Het |
| Asap3 |
A |
C |
4: 135,968,464 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,167,214 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
A |
1: 110,066,004 (GRCm39) |
Y759* |
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,704,755 (GRCm39) |
T413A |
probably benign |
Het |
| Cep97 |
A |
T |
16: 55,743,330 (GRCm39) |
I102K |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,466,813 (GRCm39) |
S441P |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,163 (GRCm39) |
T435A |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,911,989 (GRCm39) |
N56S |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,457,205 (GRCm39) |
R746* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,248,031 (GRCm39) |
C723S |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,662,632 (GRCm39) |
V643G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,008,318 (GRCm39) |
S836T |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,612,454 (GRCm39) |
V164D |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,918,381 (GRCm39) |
D357V |
probably damaging |
Het |
| Grem1 |
T |
C |
2: 113,580,132 (GRCm39) |
N123S |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,076,679 (GRCm39) |
V94A |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,934 (GRCm39) |
H112Y |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,508,092 (GRCm39) |
N410S |
probably benign |
Het |
| Insr |
A |
T |
8: 3,308,741 (GRCm39) |
S98R |
probably damaging |
Het |
| Klhl7 |
T |
A |
5: 24,346,279 (GRCm39) |
Y308* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,437,926 (GRCm39) |
V112A |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,920 (GRCm39) |
R84* |
probably null |
Het |
| Mgst1 |
A |
T |
6: 138,124,766 (GRCm39) |
M27L |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,559,707 (GRCm39) |
L740P |
probably damaging |
Het |
| Mybpc3 |
T |
C |
2: 90,955,171 (GRCm39) |
F507L |
possibly damaging |
Het |
| Nqo2 |
A |
T |
13: 34,169,326 (GRCm39) |
K183* |
probably null |
Het |
| Nt5c1b |
T |
C |
12: 10,427,194 (GRCm39) |
Y315H |
probably damaging |
Het |
| Odc1 |
T |
A |
12: 17,597,674 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,585 (GRCm39) |
D51G |
probably damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,940 (GRCm39) |
S152R |
probably damaging |
Het |
| Osbpl5 |
T |
A |
7: 143,258,862 (GRCm39) |
D236V |
probably damaging |
Het |
| Prkg1 |
A |
G |
19: 30,970,476 (GRCm39) |
Y212H |
probably benign |
Het |
| Pttg1ip |
T |
C |
10: 77,425,578 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,659,974 (GRCm39) |
T103S |
possibly damaging |
Het |
| Skp2 |
T |
C |
15: 9,125,234 (GRCm39) |
D115G |
probably benign |
Het |
| Slc25a30 |
C |
T |
14: 76,004,435 (GRCm39) |
V221I |
probably benign |
Het |
| Slc7a3 |
A |
C |
X: 100,123,098 (GRCm39) |
D609E |
probably benign |
Het |
| Strc |
C |
T |
2: 121,195,315 (GRCm39) |
G1656D |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,441,891 (GRCm39) |
F234L |
probably damaging |
Het |
| Tgm7 |
T |
G |
2: 120,929,519 (GRCm39) |
I252L |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,819 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,461 (GRCm39) |
L1034P |
probably damaging |
Het |
| Trim15 |
A |
G |
17: 37,177,956 (GRCm39) |
V13A |
probably benign |
Het |
| Uros |
C |
T |
7: 133,288,734 (GRCm39) |
V258M |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,853,723 (GRCm39) |
Y378C |
probably damaging |
Het |
| Wdr75 |
G |
A |
1: 45,856,608 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
G |
T |
9: 106,048,443 (GRCm39) |
R9L |
possibly damaging |
Het |
| Ybx3 |
G |
A |
6: 131,357,892 (GRCm39) |
R125C |
probably damaging |
Het |
| Zc3h12b |
A |
G |
X: 94,942,870 (GRCm39) |
T49A |
probably benign |
Het |
| Zfyve27 |
G |
A |
19: 42,172,575 (GRCm39) |
V279M |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation