Incidental Mutation 'R5399:Arhgap23'
ID |
429891 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
042970-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5399 (G1)
|
Quality Score |
148 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97391743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1420
(N1420S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056955]
[ENSMUST00000093940]
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056955
|
SMART Domains |
Protein: ENSMUSP00000060323 Gene: ENSMUSG00000047988
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093940
AA Change: N257S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091472 Gene: ENSMUSG00000049807 AA Change: N257S
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 |
probably damaging
Transcript: ENSMUST00000107601
AA Change: N1209S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807 AA Change: N1209S
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: N1420S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: N1420S
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
G |
T |
2: 152,282,788 (GRCm39) |
L214F |
probably damaging |
Het |
Abcb1b |
T |
C |
5: 8,877,410 (GRCm39) |
S657P |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,875,234 (GRCm39) |
Y646F |
probably benign |
Het |
Agl |
A |
T |
3: 116,575,277 (GRCm39) |
L620Q |
probably damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,911,573 (GRCm39) |
S28R |
possibly damaging |
Het |
Bmal2 |
T |
G |
6: 146,724,159 (GRCm39) |
D350E |
probably damaging |
Het |
Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
Casp4 |
A |
T |
9: 5,324,928 (GRCm39) |
K247* |
probably null |
Het |
Ccdc196 |
A |
C |
12: 78,244,227 (GRCm39) |
N60T |
probably damaging |
Het |
Clk4 |
T |
C |
11: 51,166,084 (GRCm39) |
Y17H |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,074,142 (GRCm39) |
Q722R |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,586,306 (GRCm39) |
V1905A |
possibly damaging |
Het |
Csmd1 |
C |
A |
8: 16,760,613 (GRCm39) |
G174V |
probably damaging |
Het |
Cul1 |
T |
A |
6: 47,462,018 (GRCm39) |
|
probably null |
Het |
Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
Dnaaf2 |
A |
G |
12: 69,243,516 (GRCm39) |
I515T |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,174,253 (GRCm39) |
I1868V |
possibly damaging |
Het |
Fcgbp |
G |
T |
7: 27,804,480 (GRCm39) |
V1863L |
probably benign |
Het |
G2e3 |
T |
C |
12: 51,403,977 (GRCm39) |
|
probably null |
Het |
Gabrr2 |
T |
C |
4: 33,071,458 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gbgt1 |
C |
T |
2: 28,393,230 (GRCm39) |
P106L |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,352,890 (GRCm39) |
E927G |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 107,065,428 (GRCm39) |
I84F |
possibly damaging |
Het |
Htt |
G |
T |
5: 35,034,495 (GRCm39) |
D1989Y |
probably damaging |
Het |
Ihh |
C |
T |
1: 74,985,436 (GRCm39) |
A350T |
probably benign |
Het |
Irx4 |
G |
C |
13: 73,413,658 (GRCm39) |
A43P |
probably benign |
Het |
Itk |
A |
G |
11: 46,228,938 (GRCm39) |
V414A |
probably benign |
Het |
Itsn2 |
A |
T |
12: 4,703,535 (GRCm39) |
I744L |
probably benign |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,659,427 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Msc |
A |
T |
1: 14,825,780 (GRCm39) |
C65S |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,358,876 (GRCm39) |
V343A |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,195,356 (GRCm39) |
I1218T |
possibly damaging |
Het |
Mypn |
C |
T |
10: 62,955,965 (GRCm39) |
V1163I |
probably benign |
Het |
Obox3 |
A |
T |
7: 15,360,213 (GRCm39) |
M152K |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t47 |
A |
G |
11: 58,442,969 (GRCm39) |
V32A |
probably benign |
Het |
Or4c106 |
T |
A |
2: 88,682,999 (GRCm39) |
L235H |
probably damaging |
Het |
Or4c3 |
T |
A |
2: 89,852,267 (GRCm39) |
T48S |
probably benign |
Het |
Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
Ppp1r9b |
G |
A |
11: 94,882,974 (GRCm39) |
A201T |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,521,602 (GRCm39) |
F406S |
probably benign |
Het |
Prss23 |
A |
T |
7: 89,159,174 (GRCm39) |
D298E |
probably benign |
Het |
Rab4b |
A |
T |
7: 26,875,587 (GRCm39) |
N31K |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,967,040 (GRCm39) |
|
probably null |
Het |
Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
Rtl1 |
A |
T |
12: 109,556,736 (GRCm39) |
L1701Q |
probably damaging |
Het |
Sbno1 |
T |
A |
5: 124,530,804 (GRCm39) |
N831Y |
probably benign |
Het |
Selp |
A |
G |
1: 163,954,155 (GRCm39) |
K152E |
possibly damaging |
Het |
Sema4b |
A |
G |
7: 79,874,634 (GRCm39) |
T675A |
probably benign |
Het |
Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
Slco1a4 |
T |
A |
6: 141,776,433 (GRCm39) |
I196F |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,984,990 (GRCm39) |
S828N |
probably benign |
Het |
Stard13 |
A |
T |
5: 150,971,266 (GRCm39) |
Y643* |
probably null |
Het |
Tll1 |
T |
C |
8: 64,538,522 (GRCm39) |
H374R |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 137,853,265 (GRCm39) |
I42K |
probably damaging |
Het |
Trmu |
A |
T |
15: 85,780,609 (GRCm39) |
|
probably null |
Het |
Trp53 |
T |
A |
11: 69,479,372 (GRCm39) |
D183E |
probably benign |
Het |
Ttc22 |
T |
G |
4: 106,493,954 (GRCm39) |
F305V |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,656,970 (GRCm39) |
F1077S |
possibly damaging |
Het |
Utrn |
T |
A |
10: 12,516,727 (GRCm39) |
Q2289L |
probably damaging |
Het |
Vmn1r65 |
C |
A |
7: 6,011,809 (GRCm39) |
E142* |
probably null |
Het |
Vmn2r63 |
A |
T |
7: 42,577,701 (GRCm39) |
V279D |
probably benign |
Het |
Zfp810 |
G |
A |
9: 22,190,125 (GRCm39) |
T261I |
possibly damaging |
Het |
Zkscan17 |
A |
G |
11: 59,393,744 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGCCATGCGACACTCTG -3'
(R):5'- GTATCACAGACACTGGTGGAGG -3'
Sequencing Primer
(F):5'- ATGCGACACTCTGGCACG -3'
(R):5'- CACTGGTGGAGGCGGGC -3'
|
Posted On |
2016-09-06 |