Incidental Mutation 'R7202:Arhgap23'
| ID |
560394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
045280-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7202 (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 97342819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 367
(A367V)
|
| 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: A156V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: A156V
| 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: A367V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: A367V
| 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 |
0.1006 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,917,236 (GRCm39) |
I1467T |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,223,629 (GRCm39) |
E146G |
unknown |
Het |
| Adgrf3 |
T |
A |
5: 30,409,378 (GRCm39) |
K38* |
probably null |
Het |
| Ahdc1 |
T |
A |
4: 132,789,198 (GRCm39) |
C146* |
probably null |
Het |
| Ahnak |
A |
T |
19: 8,995,163 (GRCm39) |
K5482N |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,223,948 (GRCm39) |
S960P |
probably damaging |
Het |
| Asb14 |
C |
A |
14: 26,622,394 (GRCm39) |
P74Q |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,980,601 (GRCm39) |
V2A |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,954,428 (GRCm39) |
I691M |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,455,819 (GRCm39) |
T187A |
probably benign |
Het |
| Calr4 |
T |
A |
4: 109,101,254 (GRCm39) |
N152K |
possibly damaging |
Het |
| Ccnb2 |
C |
T |
9: 70,318,128 (GRCm39) |
A215T |
probably damaging |
Het |
| Cdh16 |
C |
T |
8: 105,340,780 (GRCm39) |
D140N |
unknown |
Het |
| Ces1g |
T |
C |
8: 94,029,595 (GRCm39) |
T546A |
probably benign |
Het |
| Cfap74 |
G |
T |
4: 155,510,654 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,155,959 (GRCm39) |
Y88C |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,842,390 (GRCm39) |
D422Y |
unknown |
Het |
| Cyp2c66 |
A |
T |
19: 39,130,348 (GRCm39) |
Y61F |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,158,688 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
G |
9: 86,386,220 (GRCm39) |
|
probably null |
Het |
| Fam163a |
A |
G |
1: 155,954,834 (GRCm39) |
F106L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,596 (GRCm39) |
T167A |
probably benign |
Het |
| Gm6525 |
A |
T |
3: 84,082,341 (GRCm39) |
R87S |
probably benign |
Het |
| Gramd1c |
C |
A |
16: 43,879,584 (GRCm39) |
A19S |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,781,034 (GRCm39) |
V1233A |
probably damaging |
Het |
| Hibch |
G |
A |
1: 52,892,874 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,450,027 (GRCm39) |
S9C |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,452,572 (GRCm39) |
I252V |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,204,918 (GRCm39) |
M1536K |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,012,078 (GRCm39) |
L568Q |
probably damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,409,609 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
T |
G |
1: 134,552,497 (GRCm39) |
S1158A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,759,012 (GRCm39) |
T946A |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,697,292 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
G |
A |
6: 48,389,261 (GRCm39) |
V594M |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
| Lig1 |
C |
T |
7: 13,025,175 (GRCm39) |
P227S |
probably benign |
Het |
| Lims2 |
T |
A |
18: 32,090,017 (GRCm39) |
D255E |
probably benign |
Het |
| Marchf3 |
C |
T |
18: 56,909,161 (GRCm39) |
C208Y |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,976,843 (GRCm39) |
E142G |
|
Het |
| Melk |
G |
T |
4: 44,351,106 (GRCm39) |
R549L |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myorg |
T |
C |
4: 41,498,268 (GRCm39) |
Y454C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,250,215 (GRCm39) |
Y226C |
possibly damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,326,964 (GRCm39) |
F175S |
probably damaging |
Het |
| Ndn |
T |
C |
7: 61,998,709 (GRCm39) |
L185P |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,388 (GRCm39) |
I195F |
possibly damaging |
Het |
| Ndufaf1 |
A |
T |
2: 119,488,907 (GRCm39) |
S206T |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,836,171 (GRCm38) |
H131N |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,466,360 (GRCm39) |
D1456V |
possibly damaging |
Het |
| Or10a2 |
A |
G |
7: 106,673,448 (GRCm39) |
N138D |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,215 (GRCm39) |
V277I |
probably benign |
Het |
| Or52s6 |
T |
A |
7: 103,092,292 (GRCm39) |
T13S |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,474 (GRCm39) |
L1728F |
probably damaging |
Het |
| Pcx |
A |
T |
19: 4,652,361 (GRCm39) |
M150L |
possibly damaging |
Het |
| Pole |
A |
G |
5: 110,444,973 (GRCm39) |
D443G |
possibly damaging |
Het |
| Prr14 |
G |
T |
7: 127,075,648 (GRCm39) |
R552L |
probably damaging |
Het |
| Rasgrf1 |
T |
G |
9: 89,899,125 (GRCm39) |
S1156A |
possibly damaging |
Het |
| Rfc4 |
T |
A |
16: 22,946,359 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
G |
T |
3: 94,866,272 (GRCm39) |
A524S |
unknown |
Het |
| Ryr3 |
G |
A |
2: 112,596,664 (GRCm39) |
P2497S |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,590,992 (GRCm39) |
T6A |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,690,526 (GRCm39) |
D510V |
possibly damaging |
Het |
| Stpg3 |
A |
G |
2: 25,104,586 (GRCm39) |
F10L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,239,179 (GRCm39) |
H357Q |
possibly damaging |
Het |
| Tmem40 |
A |
T |
6: 115,707,420 (GRCm39) |
L253H |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,696,632 (GRCm39) |
V83A |
probably damaging |
Het |
| Uck2 |
A |
T |
1: 167,054,084 (GRCm39) |
I218N |
probably damaging |
Het |
| Vtn |
A |
G |
11: 78,391,626 (GRCm39) |
D310G |
possibly damaging |
Het |
| Wdr49 |
A |
T |
3: 75,240,580 (GRCm39) |
S430T |
probably benign |
Het |
| Wtip |
A |
G |
7: 33,832,087 (GRCm39) |
V133A |
probably benign |
Het |
| Zbtb9 |
T |
A |
17: 27,193,666 (GRCm39) |
V357E |
probably damaging |
Het |
| Zfp953 |
G |
A |
13: 67,491,706 (GRCm39) |
T82M |
probably benign |
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 |
|
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'- TCACACTGGCTGTCCAATCAG -3'
(R):5'- GGCTATAGCTCCGATATCCAATG -3'
Sequencing Primer
(F):5'- TGGCTGTCCAATCAGATACCC -3'
(R):5'- ATGTACCCGATGTCATCCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation