Incidental Mutation 'IGL02740:Arhgap23'
| ID |
305874 |
| 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 # |
IGL02740
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 97365843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 998
(K998Q)
|
| 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: K787Q
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: K787Q
| 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: K998Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: K998Q
| 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 |
possibly damaging
Transcript: ENSMUST00000142465
AA Change: K487Q
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: K487Q
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
C |
T |
1: 59,209,078 (GRCm39) |
E1494K |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,178,251 (GRCm39) |
|
probably benign |
Het |
| Bap1 |
A |
G |
14: 30,978,729 (GRCm39) |
N47D |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,278,501 (GRCm39) |
I156T |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,884,953 (GRCm39) |
T563A |
probably benign |
Het |
| Cct7 |
T |
C |
6: 85,445,252 (GRCm39) |
F501S |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,909,242 (GRCm39) |
I8V |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,786,115 (GRCm39) |
|
probably null |
Het |
| Cep170 |
T |
G |
1: 176,621,166 (GRCm39) |
T4P |
probably damaging |
Het |
| Chaf1a |
G |
T |
17: 56,374,500 (GRCm39) |
G896W |
probably damaging |
Het |
| Cpt1b |
A |
T |
15: 89,308,535 (GRCm39) |
L131Q |
probably damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,495 (GRCm39) |
R366* |
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,812,514 (GRCm39) |
N659K |
probably damaging |
Het |
| Dmrt2 |
C |
A |
19: 25,655,837 (GRCm39) |
L479I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,903,927 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
C |
T |
18: 20,660,765 (GRCm39) |
T368M |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,325,104 (GRCm39) |
S489* |
probably null |
Het |
| Eed |
A |
C |
7: 89,621,464 (GRCm39) |
V112G |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,705,851 (GRCm39) |
|
probably benign |
Het |
| Elavl3 |
T |
C |
9: 21,947,675 (GRCm39) |
D89G |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,206,652 (GRCm39) |
S522P |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,930,938 (GRCm39) |
L320P |
probably benign |
Het |
| Gadl1 |
T |
A |
9: 115,835,629 (GRCm39) |
Y352* |
probably null |
Het |
| Gemin5 |
G |
A |
11: 58,042,390 (GRCm39) |
A477V |
probably damaging |
Het |
| Gm3086 |
A |
T |
12: 70,016,095 (GRCm39) |
|
probably benign |
Het |
| Gm8082 |
C |
T |
14: 42,846,570 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,377,161 (GRCm39) |
L54P |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,230,585 (GRCm39) |
V512M |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,100 (GRCm39) |
S107P |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,925 (GRCm39) |
*460Q |
probably null |
Het |
| Nfkbiz |
G |
T |
16: 55,638,317 (GRCm39) |
T381N |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,657 (GRCm39) |
N84Y |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,979,601 (GRCm39) |
H254L |
probably damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,226 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,585 (GRCm39) |
I126V |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,710,685 (GRCm39) |
Q523* |
probably null |
Het |
| Ptcra |
A |
G |
17: 47,069,473 (GRCm39) |
S133P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,980,253 (GRCm39) |
D362E |
possibly damaging |
Het |
| Rbm33 |
A |
T |
5: 28,536,121 (GRCm39) |
D19V |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,506,898 (GRCm39) |
V74D |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,899 (GRCm39) |
D7G |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,278,305 (GRCm39) |
T659A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,883 (GRCm39) |
N894D |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,155,106 (GRCm39) |
R618C |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,148,421 (GRCm39) |
D1041E |
probably benign |
Het |
| Slc43a1 |
G |
T |
2: 84,690,094 (GRCm39) |
A424S |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,042 (GRCm39) |
L49P |
probably damaging |
Het |
| Sv2a |
G |
T |
3: 96,092,723 (GRCm39) |
R141L |
possibly damaging |
Het |
| Thsd7b |
C |
T |
1: 129,540,864 (GRCm39) |
S246F |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,863 (GRCm39) |
D133V |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,968,347 (GRCm39) |
|
probably benign |
Het |
| Triobp |
G |
A |
15: 78,850,889 (GRCm39) |
V348I |
probably benign |
Het |
| Trps1 |
A |
T |
15: 50,709,935 (GRCm39) |
D134E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,162 (GRCm39) |
I19584V |
probably benign |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,006 (GRCm39) |
H178R |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,585 (GRCm39) |
Q2298L |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,818 (GRCm39) |
I729T |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,653,366 (GRCm39) |
M544L |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,022,850 (GRCm39) |
L404Q |
probably damaging |
Het |
| Xrcc5 |
T |
G |
1: 72,379,240 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,601,412 (GRCm39) |
K119E |
possibly 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 |
|
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