Incidental Mutation 'R1084:Arhgap9'
| ID |
84962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap9
|
| Ensembl Gene |
ENSMUSG00000040345 |
| Gene Name |
Rho GTPase activating protein 9 |
| Synonyms |
|
| MMRRC Submission |
039170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127157833-127165812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127163797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 478
(S478G)
|
| 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 damaging
Transcript: ENSMUST00000069548
AA Change: S303G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
AA Change: S303G
| 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 damaging
Transcript: ENSMUST00000219026
AA Change: S303G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219511
AA Change: S478G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219640
|
| Meta Mutation Damage Score |
0.2892 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
| Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
| Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
| Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
| Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
| Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
| Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
| Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
| Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
| Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
| Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
| Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
| Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
| Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
probably damaging |
Het |
|
| Other mutations in Arhgap9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Arhgap9
|
APN |
10 |
127,163,762 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGATTCCAGTCTGAGTCCGC -3'
(R):5'- CGTTCTGCAACATACAGGAGAGACC -3'
Sequencing Primer
(F):5'- AGGTTATTTTTCCGAAGACACCC -3'
(R):5'- CATACAGGAGAGACCAGTAGCTTAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation