Incidental Mutation 'R4963:Arhgap17'
ID |
383720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap17
|
Ensembl Gene |
ENSMUSG00000030766 |
Gene Name |
Rho GTPase activating protein 17 |
Synonyms |
Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15 |
MMRRC Submission |
042560-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4963 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122907583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 260
(R260G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
AlphaFold |
Q3UIA2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098060
AA Change: R260G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095668 Gene: ENSMUSG00000030766 AA Change: R260G
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 |
possibly damaging
Transcript: ENSMUST00000106442
AA Change: R260G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102050 Gene: ENSMUSG00000030766 AA Change: R260G
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 |
possibly damaging
Transcript: ENSMUST00000167309
AA Change: R260G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128447 Gene: ENSMUSG00000030766 AA Change: R260G
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 |
possibly damaging
Transcript: ENSMUST00000205262
AA Change: R260G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206294
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207010
AA Change: R260G
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1885 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
97% (74/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,470,582 (GRCm39) |
I133N |
probably benign |
Het |
Abca15 |
T |
C |
7: 119,960,142 (GRCm39) |
S642P |
probably damaging |
Het |
Abcg5 |
G |
T |
17: 84,967,569 (GRCm39) |
Y410* |
probably null |
Het |
Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,825,745 (GRCm39) |
T418M |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,694,051 (GRCm39) |
T381A |
probably damaging |
Het |
Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,204,619 (GRCm39) |
D309G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,286,145 (GRCm39) |
I768T |
probably benign |
Het |
Defa41 |
C |
T |
8: 21,691,774 (GRCm39) |
S52F |
probably damaging |
Het |
Dgke |
A |
G |
11: 88,941,628 (GRCm39) |
V249A |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,975,437 (GRCm39) |
|
probably null |
Het |
Dnajc3 |
C |
A |
14: 119,215,585 (GRCm39) |
H502N |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,846 (GRCm39) |
T2265A |
probably damaging |
Het |
Enpp6 |
A |
G |
8: 47,518,496 (GRCm39) |
D208G |
probably benign |
Het |
Evc |
C |
T |
5: 37,479,393 (GRCm39) |
|
probably null |
Het |
Fam98a |
A |
G |
17: 75,845,977 (GRCm39) |
S285P |
probably damaging |
Het |
Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
Gsdmc |
A |
G |
15: 63,676,229 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
C |
A |
13: 9,035,253 (GRCm39) |
D369Y |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,630 (GRCm39) |
Y77H |
probably benign |
Het |
Irx2 |
T |
C |
13: 72,780,729 (GRCm39) |
V466A |
possibly damaging |
Het |
Kcnh4 |
C |
A |
11: 100,643,079 (GRCm39) |
W396L |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,476,808 (GRCm39) |
D614G |
possibly damaging |
Het |
Kirrel2 |
C |
A |
7: 30,150,226 (GRCm39) |
|
probably null |
Het |
Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
Ldb3 |
T |
G |
14: 34,288,815 (GRCm39) |
S252R |
probably damaging |
Het |
Marchf8 |
G |
A |
6: 116,363,232 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
C |
A |
4: 32,756,512 (GRCm39) |
Q4735K |
probably benign |
Het |
Mfrp |
A |
T |
9: 44,014,561 (GRCm39) |
H236L |
probably benign |
Het |
Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
Msi1 |
T |
A |
5: 115,588,944 (GRCm39) |
Y320N |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,070,567 (GRCm39) |
|
probably benign |
Het |
Mtpap |
T |
C |
18: 4,375,638 (GRCm39) |
V6A |
probably benign |
Het |
Nedd1 |
C |
A |
10: 92,530,893 (GRCm39) |
D399Y |
probably damaging |
Het |
Ninl |
A |
G |
2: 150,781,829 (GRCm39) |
Y234H |
probably benign |
Het |
Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
Nle1 |
A |
G |
11: 82,795,763 (GRCm39) |
V228A |
probably benign |
Het |
Npy4r |
T |
A |
14: 33,868,973 (GRCm39) |
D105V |
probably damaging |
Het |
Or1f12 |
A |
G |
13: 21,722,152 (GRCm39) |
Y8H |
probably damaging |
Het |
Palld |
C |
T |
8: 62,156,244 (GRCm39) |
V464M |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
Pex1 |
T |
A |
5: 3,659,924 (GRCm39) |
M476K |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,367,421 (GRCm39) |
S773N |
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Prmt9 |
A |
G |
8: 78,282,358 (GRCm39) |
D85G |
probably damaging |
Het |
Ptpn12 |
T |
A |
5: 21,220,706 (GRCm39) |
|
probably null |
Het |
Rbm19 |
T |
A |
5: 120,279,631 (GRCm39) |
M766K |
probably damaging |
Het |
Rdh11 |
A |
G |
12: 79,235,380 (GRCm39) |
V72A |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,367 (GRCm39) |
V335A |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,431,318 (GRCm39) |
K127E |
possibly damaging |
Het |
Slc5a1 |
C |
T |
5: 33,318,126 (GRCm39) |
T593I |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,868,825 (GRCm39) |
F380L |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,450,826 (GRCm39) |
S215P |
probably damaging |
Het |
Smyd2 |
A |
T |
1: 189,614,385 (GRCm39) |
V381E |
probably damaging |
Het |
Smyd4 |
C |
T |
11: 75,273,120 (GRCm39) |
S60L |
probably benign |
Het |
Spata18 |
T |
A |
5: 73,836,336 (GRCm39) |
V419E |
probably damaging |
Het |
Terb1 |
A |
G |
8: 105,208,950 (GRCm39) |
L376S |
probably damaging |
Het |
Timd2 |
T |
C |
11: 46,573,617 (GRCm39) |
E129G |
possibly damaging |
Het |
Topbp1 |
C |
A |
9: 103,197,804 (GRCm39) |
T461K |
probably benign |
Het |
Tpp2 |
G |
A |
1: 44,031,428 (GRCm39) |
R1069Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,584,289 (GRCm39) |
V22273A |
probably damaging |
Het |
Tulp4 |
G |
A |
17: 6,249,088 (GRCm39) |
E36K |
probably damaging |
Het |
Uqcrfs1 |
A |
T |
13: 30,724,746 (GRCm39) |
F265I |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,403 (GRCm39) |
Q652L |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,644,446 (GRCm39) |
R2434* |
probably null |
Het |
Wdhd1 |
A |
G |
14: 47,506,146 (GRCm39) |
V256A |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,415 (GRCm39) |
C439S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,632 (GRCm39) |
T354A |
probably benign |
Het |
Zswim2 |
A |
T |
2: 83,755,454 (GRCm39) |
I149N |
probably damaging |
Het |
|
Other mutations in Arhgap17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Arhgap17
|
APN |
7 |
122,885,791 (GRCm39) |
utr 3 prime |
probably benign |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAAGGTTTGAAAGCCACTGG -3'
(R):5'- CAAAAGCTCACCAGATGTCTG -3'
Sequencing Primer
(F):5'- GGTTTGAAAGCCACTGGTCTATACC -3'
(R):5'- CAGATGTCTGGGTGTTTCTCTTCTC -3'
|
Posted On |
2016-04-27 |