Incidental Mutation 'IGL00919:Arhgap9'
| ID |
28329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap9
|
| Ensembl Gene |
ENSMUSG00000040345 |
| Gene Name |
Rho GTPase activating protein 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL00919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127157833-127165812 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 127163762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026474]
[ENSMUST00000069548]
[ENSMUST00000219026]
[ENSMUST00000219511]
|
| AlphaFold |
Q1HDU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026474
|
| SMART Domains |
Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
238 |
263 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
271 |
298 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
304 |
328 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
334 |
359 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
365 |
390 |
2.61e-4 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
962 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069548
|
| SMART Domains |
Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
175 |
8.19e-10 |
SMART |
|
RhoGAP
|
276 |
469 |
1.94e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219640
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef1 |
A |
G |
1: 10,243,462 (GRCm39) |
V1029A |
probably damaging |
Het |
| Ccdc63 |
T |
C |
5: 122,262,982 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Ctps1 |
A |
G |
4: 120,424,545 (GRCm39) |
V23A |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,927,535 (GRCm39) |
E333G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,207,064 (GRCm39) |
V176A |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,455,552 (GRCm39) |
I544T |
probably damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,316 (GRCm39) |
V166A |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,926,549 (GRCm39) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,281,608 (GRCm39) |
D366V |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,683 (GRCm39) |
I197N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,093,481 (GRCm39) |
Y61* |
probably null |
Het |
| Or4c121 |
T |
G |
2: 89,023,848 (GRCm39) |
M177L |
probably benign |
Het |
| Pcdh1 |
T |
A |
18: 38,335,865 (GRCm39) |
K118* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,874,166 (GRCm39) |
I10N |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,041,380 (GRCm39) |
C250S |
probably damaging |
Het |
| Rtl8c |
A |
G |
X: 52,610,187 (GRCm39) |
T59A |
possibly damaging |
Het |
| Serpine1 |
A |
G |
5: 137,092,376 (GRCm39) |
I377T |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,965,008 (GRCm39) |
D865V |
probably damaging |
Het |
| Ski |
A |
T |
4: 155,306,799 (GRCm39) |
V60E |
possibly damaging |
Het |
| St7l |
T |
A |
3: 104,833,782 (GRCm39) |
L481H |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,998,662 (GRCm39) |
I375T |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
|
| Other mutations in Arhgap9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Arhgap9
|
APN |
10 |
127,164,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Arhgap9
|
APN |
10 |
127,163,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Arhgap9
|
APN |
10 |
127,165,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0242:Arhgap9
|
UTSW |
10 |
127,165,407 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0242:Arhgap9
|
UTSW |
10 |
127,165,407 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0841:Arhgap9
|
UTSW |
10 |
127,165,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1084:Arhgap9
|
UTSW |
10 |
127,163,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Arhgap9
|
UTSW |
10 |
127,164,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1799:Arhgap9
|
UTSW |
10 |
127,163,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2423:Arhgap9
|
UTSW |
10 |
127,162,993 (GRCm39) |
splice site |
probably null |
|
|
R2511:Arhgap9
|
UTSW |
10 |
127,164,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3721:Arhgap9
|
UTSW |
10 |
127,164,840 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3803:Arhgap9
|
UTSW |
10 |
127,165,386 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4261:Arhgap9
|
UTSW |
10 |
127,164,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Arhgap9
|
UTSW |
10 |
127,162,875 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5423:Arhgap9
|
UTSW |
10 |
127,165,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Arhgap9
|
UTSW |
10 |
127,162,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6697:Arhgap9
|
UTSW |
10 |
127,157,989 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6969:Arhgap9
|
UTSW |
10 |
127,162,512 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8840:Arhgap9
|
UTSW |
10 |
127,161,009 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8844:Arhgap9
|
UTSW |
10 |
127,161,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9084:Arhgap9
|
UTSW |
10 |
127,158,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9325:Arhgap9
|
UTSW |
10 |
127,161,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Arhgap9
|
UTSW |
10 |
127,164,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgap9
|
UTSW |
10 |
127,163,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation