Incidental Mutation 'IGL01012:Arhgap17'
ID |
53656 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap17
|
Ensembl Gene |
ENSMUSG00000030766 |
Gene Name |
Rho GTPase activating protein 17 |
Synonyms |
Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01012
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 122885791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
AlphaFold |
Q3UIA2 |
Predicted Effect |
unknown
Transcript: ENSMUST00000098060
AA Change: H702Q
|
SMART Domains |
Protein: ENSMUSP00000095668 Gene: ENSMUSG00000030766 AA Change: H702Q
Domain | Start | End | E-Value | Type |
BAR
|
1 |
239 |
4.45e-65 |
SMART |
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
low complexity region
|
554 |
595 |
N/A |
INTRINSIC |
low complexity region
|
624 |
640 |
N/A |
INTRINSIC |
low complexity region
|
644 |
664 |
N/A |
INTRINSIC |
low complexity region
|
683 |
704 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106442
AA Change: H780Q
|
SMART Domains |
Protein: ENSMUSP00000102050 Gene: ENSMUSG00000030766 AA Change: H780Q
Domain | Start | End | E-Value | Type |
BAR
|
1 |
239 |
4.45e-65 |
SMART |
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
low complexity region
|
542 |
557 |
N/A |
INTRINSIC |
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
low complexity region
|
632 |
673 |
N/A |
INTRINSIC |
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000167309
AA Change: H780Q
|
SMART Domains |
Protein: ENSMUSP00000128447 Gene: ENSMUSG00000030766 AA Change: H780Q
Domain | Start | End | E-Value | Type |
BAR
|
1 |
239 |
4.45e-65 |
SMART |
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
low complexity region
|
542 |
557 |
N/A |
INTRINSIC |
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
low complexity region
|
632 |
673 |
N/A |
INTRINSIC |
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205262
AA Change: H702Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207010
AA Change: H702Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206803
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
Afap1l2 |
T |
C |
19: 56,918,693 (GRCm39) |
E30G |
probably damaging |
Het |
Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
Med13l |
G |
A |
5: 118,872,093 (GRCm39) |
D842N |
probably damaging |
Het |
Mef2c |
T |
A |
13: 83,803,714 (GRCm39) |
M306K |
probably damaging |
Het |
Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
Stag1 |
C |
A |
9: 100,737,912 (GRCm39) |
A423E |
possibly damaging |
Het |
Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably damaging |
Het |
|
Other mutations in Arhgap17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02112:Arhgap17
|
APN |
7 |
122,917,640 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02117:Arhgap17
|
APN |
7 |
122,885,996 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03062:Arhgap17
|
APN |
7 |
122,921,097 (GRCm39) |
splice site |
probably null |
|
gensing
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
Nightshade
|
UTSW |
7 |
122,926,467 (GRCm39) |
missense |
probably damaging |
1.00 |
tuberose
|
UTSW |
7 |
122,907,600 (GRCm39) |
missense |
probably damaging |
1.00 |
yam
|
UTSW |
7 |
122,905,643 (GRCm39) |
missense |
probably damaging |
1.00 |
P0028:Arhgap17
|
UTSW |
7 |
122,885,900 (GRCm39) |
utr 3 prime |
probably benign |
|
R0480:Arhgap17
|
UTSW |
7 |
122,893,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R0593:Arhgap17
|
UTSW |
7 |
122,885,966 (GRCm39) |
utr 3 prime |
probably benign |
|
R0594:Arhgap17
|
UTSW |
7 |
122,893,741 (GRCm39) |
missense |
probably benign |
0.00 |
R0599:Arhgap17
|
UTSW |
7 |
122,903,013 (GRCm39) |
splice site |
probably benign |
|
R0751:Arhgap17
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Arhgap17
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Arhgap17
|
UTSW |
7 |
122,885,925 (GRCm39) |
missense |
probably benign |
0.23 |
R2036:Arhgap17
|
UTSW |
7 |
122,917,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3428:Arhgap17
|
UTSW |
7 |
122,922,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4032:Arhgap17
|
UTSW |
7 |
122,879,289 (GRCm39) |
utr 3 prime |
probably benign |
|
R4119:Arhgap17
|
UTSW |
7 |
122,906,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Arhgap17
|
UTSW |
7 |
122,885,841 (GRCm39) |
utr 3 prime |
probably benign |
|
R4687:Arhgap17
|
UTSW |
7 |
122,920,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Arhgap17
|
UTSW |
7 |
122,907,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:Arhgap17
|
UTSW |
7 |
122,886,149 (GRCm39) |
utr 3 prime |
probably benign |
|
R4963:Arhgap17
|
UTSW |
7 |
122,907,583 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5028:Arhgap17
|
UTSW |
7 |
122,893,896 (GRCm39) |
missense |
probably benign |
0.05 |
R5253:Arhgap17
|
UTSW |
7 |
122,902,971 (GRCm39) |
missense |
probably benign |
0.00 |
R5316:Arhgap17
|
UTSW |
7 |
122,895,750 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5410:Arhgap17
|
UTSW |
7 |
122,896,716 (GRCm39) |
critical splice donor site |
probably null |
|
R5890:Arhgap17
|
UTSW |
7 |
122,885,981 (GRCm39) |
utr 3 prime |
probably benign |
|
R6367:Arhgap17
|
UTSW |
7 |
122,907,586 (GRCm39) |
makesense |
probably null |
|
R6376:Arhgap17
|
UTSW |
7 |
122,899,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R6513:Arhgap17
|
UTSW |
7 |
122,891,379 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6862:Arhgap17
|
UTSW |
7 |
122,921,124 (GRCm39) |
missense |
probably damaging |
0.98 |
R6962:Arhgap17
|
UTSW |
7 |
122,895,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7077:Arhgap17
|
UTSW |
7 |
122,879,231 (GRCm39) |
missense |
unknown |
|
R7178:Arhgap17
|
UTSW |
7 |
122,884,581 (GRCm39) |
splice site |
probably null |
|
R7205:Arhgap17
|
UTSW |
7 |
122,905,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R7342:Arhgap17
|
UTSW |
7 |
122,926,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Arhgap17
|
UTSW |
7 |
122,905,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Arhgap17
|
UTSW |
7 |
122,879,290 (GRCm39) |
missense |
unknown |
|
R7901:Arhgap17
|
UTSW |
7 |
122,885,791 (GRCm39) |
utr 3 prime |
probably benign |
|
R7950:Arhgap17
|
UTSW |
7 |
122,886,039 (GRCm39) |
missense |
probably benign |
0.23 |
R7952:Arhgap17
|
UTSW |
7 |
122,885,914 (GRCm39) |
missense |
probably benign |
0.23 |
R8842:Arhgap17
|
UTSW |
7 |
122,893,750 (GRCm39) |
missense |
probably benign |
0.07 |
R9460:Arhgap17
|
UTSW |
7 |
122,879,286 (GRCm39) |
missense |
unknown |
|
R9630:Arhgap17
|
UTSW |
7 |
122,907,540 (GRCm39) |
missense |
probably benign |
0.02 |
R9766:Arhgap17
|
UTSW |
7 |
122,921,148 (GRCm39) |
missense |
probably benign |
0.27 |
RF009:Arhgap17
|
UTSW |
7 |
122,886,085 (GRCm39) |
small deletion |
probably benign |
|
RF015:Arhgap17
|
UTSW |
7 |
122,886,085 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2013-06-28 |