Incidental Mutation 'R5857:Arhgap23'
| ID |
454968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
163 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97342405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 229
(A229V)
|
| 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: A18V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: A18V
| 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: A229V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: A229V
| 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 |
0.0703 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
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 |
|
|
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'- AGGATGCCTACCTAAAGGGC -3'
(R):5'- CGGGGTATCTGATTGGACAG -3'
Sequencing Primer
(F):5'- CAACGAGCCGTATTCTGGAG -3'
(R):5'- ATCTGATTGGACAGCCAGTGTGAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation