Incidental Mutation 'R8332:Arhgap23'
| ID |
644442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
067728-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8332 (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 T
at 97381960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 61
(S61T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056955]
[ENSMUST00000093940]
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056955
AA Change: S61T
|
| SMART Domains |
Protein: ENSMUSP00000060323
Gene: ENSMUSG00000047988
AA Change: S61T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093940
|
| SMART Domains |
Protein: ENSMUSP00000091472
Gene: ENSMUSG00000049807
| 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 |
possibly damaging
Transcript: ENSMUST00000107601
AA Change: T897S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T897S
| 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 |
possibly damaging
Transcript: ENSMUST00000121799
AA Change: T1108S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T1108S
| 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
AA Change: T597S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T597S
| 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: 99.9%
- 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,815,436 (GRCm39) |
D228G |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,791,282 (GRCm39) |
D841G |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,561 (GRCm39) |
V796I |
probably benign |
Het |
| Angptl8 |
A |
T |
9: 21,748,137 (GRCm39) |
|
probably null |
Het |
| Bcl9 |
C |
T |
3: 97,117,086 (GRCm39) |
G536D |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,594 (GRCm39) |
D220G |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,107,514 (GRCm39) |
C58* |
probably null |
Het |
| Ccr8 |
A |
T |
9: 119,923,440 (GRCm39) |
Y185F |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,087 (GRCm39) |
H408Q |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,016,037 (GRCm39) |
E351G |
probably damaging |
Het |
| Cog5 |
A |
T |
12: 31,883,222 (GRCm39) |
K384* |
probably null |
Het |
| Cpne1 |
T |
C |
2: 155,920,317 (GRCm39) |
T187A |
probably benign |
Het |
| Crat |
T |
A |
2: 30,295,084 (GRCm39) |
I444F |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,152 (GRCm39) |
M1052L |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,377 (GRCm39) |
K104E |
probably damaging |
Het |
| Erp44 |
A |
G |
4: 48,243,475 (GRCm39) |
|
probably null |
Het |
| Flad1 |
G |
T |
3: 89,314,828 (GRCm39) |
Q290K |
probably benign |
Het |
| Gata3os |
G |
A |
2: 9,887,650 (GRCm39) |
R17H |
unknown |
Het |
| Gli3 |
G |
T |
13: 15,888,133 (GRCm39) |
R516L |
possibly damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,048 (GRCm39) |
C182S |
unknown |
Het |
| Herc2 |
T |
C |
7: 55,796,343 (GRCm39) |
I1905T |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,155,641 (GRCm39) |
V617D |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,629,719 (GRCm39) |
I350V |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,319 (GRCm39) |
D6G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,601,210 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,407,805 (GRCm39) |
T1828I |
probably damaging |
Het |
| Or2at1 |
T |
C |
7: 99,417,334 (GRCm39) |
*322Q |
probably null |
Het |
| Or6c38 |
A |
G |
10: 128,929,174 (GRCm39) |
I223T |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,145,857 (GRCm39) |
I2689N |
possibly damaging |
Het |
| Prag1 |
T |
C |
8: 36,613,457 (GRCm39) |
I1003T |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,805,967 (GRCm39) |
D170G |
unknown |
Het |
| Rnf213 |
A |
C |
11: 119,374,524 (GRCm39) |
Q5027P |
|
Het |
| Robo1 |
T |
C |
16: 72,775,466 (GRCm39) |
Y664H |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,616,484 (GRCm39) |
D287E |
possibly damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,449,741 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,680 (GRCm39) |
T706S |
probably benign |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,757 (GRCm39) |
R69S |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,119,165 (GRCm39) |
C119* |
probably null |
Het |
| T2 |
A |
G |
17: 8,609,784 (GRCm39) |
M78V |
probably null |
Het |
| Taok1 |
A |
T |
11: 77,432,545 (GRCm39) |
V756D |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,286,310 (GRCm39) |
G782D |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,900,032 (GRCm39) |
P615L |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,721 (GRCm39) |
I217F |
possibly damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,049,677 (GRCm39) |
V691M |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,492,122 (GRCm39) |
Y267C |
probably damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,971 (GRCm39) |
D141G |
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,301 (GRCm39) |
E492G |
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 |
|
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 |
|
R7599:Arhgap23
|
UTSW |
11 |
97,391,169 (GRCm39) |
missense |
probably benign |
|
|
R8229:Arhgap23
|
UTSW |
11 |
97,344,732 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TCCGAGAAACCCAGTATTTAGC -3'
(R):5'- AACATCTGGCCAGGCATCTG -3'
Sequencing Primer
(F):5'- CAAAGCCCATGTTCTTAGCTGAGG -3'
(R):5'- CATCTGGGACCCTCAGAAAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation