Incidental Mutation 'R8492:Arhgap23'
| ID |
658065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
067934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97365847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 488
(Y488C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123191
(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: Y788C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: Y788C
| 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: Y999C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: Y999C
| 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: Y488C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: Y488C
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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 |
|---|
| 9330159F19Rik |
G |
A |
10: 29,094,243 (GRCm39) |
R43K |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,793,410 (GRCm39) |
Y354F |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,017,301 (GRCm39) |
T25S |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,250,503 (GRCm39) |
K414E |
probably damaging |
Het |
| Ankmy2 |
A |
T |
12: 36,226,590 (GRCm39) |
I95F |
probably damaging |
Het |
| Ankrd35 |
T |
G |
3: 96,589,529 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,531,294 (GRCm39) |
N91S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,866 (GRCm39) |
L228H |
probably damaging |
Het |
| Asah2 |
G |
A |
19: 31,983,659 (GRCm39) |
T595M |
probably benign |
Het |
| Ccdc174 |
G |
C |
6: 91,865,138 (GRCm39) |
R132T |
probably benign |
Het |
| Ccng2 |
A |
C |
5: 93,419,313 (GRCm39) |
H233P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,622,422 (GRCm39) |
F586L |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,926 (GRCm39) |
S969P |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,711,134 (GRCm39) |
D1505N |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,876,980 (GRCm39) |
|
probably null |
Het |
| Cytip |
A |
G |
2: 58,027,869 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,525 (GRCm39) |
S1026T |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,817,177 (GRCm39) |
D372E |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,828,271 (GRCm39) |
M560L |
possibly damaging |
Het |
| Dync2li1 |
C |
A |
17: 84,957,134 (GRCm39) |
|
probably null |
Het |
| Eif3c |
C |
T |
7: 126,162,282 (GRCm39) |
G180D |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| G6pc2 |
A |
G |
2: 69,050,586 (GRCm39) |
I70M |
probably damaging |
Het |
| Gm5145 |
A |
T |
17: 20,790,681 (GRCm39) |
I20F |
probably damaging |
Het |
| Hba-x |
T |
A |
11: 32,227,921 (GRCm39) |
F128L |
probably benign |
Het |
| Hspb1 |
G |
A |
5: 135,918,222 (GRCm39) |
E190K |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,863,966 (GRCm39) |
S246T |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,475,985 (GRCm39) |
S828T |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,051 (GRCm39) |
Q301H |
probably damaging |
Het |
| Malrd1 |
T |
G |
2: 15,614,934 (GRCm39) |
S250A |
|
Het |
| Mettl21e |
A |
G |
1: 44,245,553 (GRCm39) |
I231T |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,945,881 (GRCm39) |
D341G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,313,473 (GRCm39) |
D1287G |
probably damaging |
Het |
| Ndufb5 |
T |
G |
3: 32,805,377 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,203,224 (GRCm39) |
E309G |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,299,248 (GRCm39) |
F199I |
probably benign |
Het |
| Or12k7 |
T |
A |
2: 36,958,695 (GRCm39) |
I126N |
probably damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,347 (GRCm39) |
Y249* |
probably null |
Het |
| Plekhg3 |
G |
T |
12: 76,622,790 (GRCm39) |
V677L |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,733,042 (GRCm39) |
Y25H |
probably damaging |
Het |
| Prok2 |
A |
T |
6: 99,691,437 (GRCm39) |
H75Q |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,184,524 (GRCm39) |
H1494Q |
possibly damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,581,063 (GRCm39) |
I1277S |
probably damaging |
Het |
| Rhob |
G |
T |
12: 8,549,531 (GRCm39) |
Y34* |
probably null |
Het |
| Rnf141 |
T |
G |
7: 110,436,407 (GRCm39) |
D7A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,809,911 (GRCm39) |
S1220P |
probably benign |
Het |
| Rpl13a |
A |
G |
7: 44,775,945 (GRCm39) |
V48A |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,587 (GRCm39) |
H362Q |
probably damaging |
Het |
| Shld2 |
T |
A |
14: 33,967,189 (GRCm39) |
K122N |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,595 (GRCm39) |
V109L |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,564,809 (GRCm39) |
V390A |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,263,869 (GRCm39) |
N839D |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,456 (GRCm39) |
T802I |
probably benign |
Het |
| Tdh |
C |
A |
14: 63,730,269 (GRCm39) |
D337Y |
probably damaging |
Het |
| Tmem156 |
A |
T |
5: 65,222,438 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Tmpo |
C |
A |
10: 90,997,720 (GRCm39) |
R689L |
probably benign |
Het |
| Trim56 |
A |
C |
5: 137,141,783 (GRCm39) |
C578G |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,035 (GRCm39) |
W481* |
probably null |
Het |
| Tssk3 |
T |
C |
4: 129,383,445 (GRCm39) |
M76V |
probably benign |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,056 (GRCm39) |
Y32F |
possibly damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,394 (GRCm39) |
I310T |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,470 (GRCm39) |
T148A |
probably benign |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,689 (GRCm39) |
V198I |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,499 (GRCm39) |
R637G |
possibly damaging |
Het |
| Zic5 |
G |
T |
14: 122,702,474 (GRCm39) |
Q86K |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,777,572 (GRCm39) |
M1801K |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,763,430 (GRCm39) |
V1359G |
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 |
|
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 |
|
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'- CCTTGGGAAGGTCCTTAGTCTAG -3'
(R):5'- AATGCCCTTCCTTCGTACAG -3'
Sequencing Primer
(F):5'- TCTAGAGACAAAGGGAGGGG -3'
(R):5'- TCCTTCGTACAGGTGGGGAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation