Incidental Mutation 'R5253:Arhgap17'
ID |
399218 |
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 |
042824-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5253 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122902971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 359
(Y359N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
AlphaFold |
Q3UIA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098060
AA Change: Y359N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000095668 Gene: ENSMUSG00000030766 AA Change: Y359N
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 |
probably benign
Transcript: ENSMUST00000106442
AA Change: Y359N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102050 Gene: ENSMUSG00000030766 AA Change: Y359N
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 |
probably benign
Transcript: ENSMUST00000167309
AA Change: Y359N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000128447 Gene: ENSMUSG00000030766 AA Change: Y359N
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 |
probably benign
Transcript: ENSMUST00000205262
AA Change: Y359N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206294
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207010
AA Change: Y359N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
99% (72/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
Fcsk |
T |
C |
8: 111,610,499 (GRCm39) |
E968G |
possibly damaging |
Het |
Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
Kcp |
C |
T |
6: 29,498,519 (GRCm39) |
|
probably benign |
Het |
Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
Nlrp4a |
C |
T |
7: 26,149,917 (GRCm39) |
S508L |
probably benign |
Het |
Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
Tead1 |
G |
T |
7: 112,460,752 (GRCm39) |
D219Y |
probably damaging |
Het |
Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
probably benign |
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 |
|
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 |
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'- GGTCACCGAAACTTCCTTTAGAG -3'
(R):5'- TACCTCGTGCTGGGAAGTAG -3'
Sequencing Primer
(F):5'- TAGGCAGTGCATCTATCGAACTAGC -3'
(R):5'- TCTGACTAAGCCCTACCTCAG -3'
|
Posted On |
2016-07-06 |