Incidental Mutation 'R5028:Arhgap17'
ID |
391509 |
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 |
042619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5028 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122893896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 508
(H508L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
AlphaFold |
Q3UIA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098060
|
SMART Domains |
Protein: ENSMUSP00000095668 Gene: ENSMUSG00000030766
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: H508L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102050 Gene: ENSMUSG00000030766 AA Change: H508L
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: H508L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000128447 Gene: ENSMUSG00000030766 AA Change: H508L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206294
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207010
|
Meta Mutation Damage Score |
0.0721 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
97% (62/64) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
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'- AGCAGAAGTGGGCTCCTTAC -3'
(R):5'- ATGACCGCTGACATGTCTTG -3'
Sequencing Primer
(F):5'- AAGTGGGCTCCTTACCTGCTG -3'
(R):5'- GCCACTTACCTGCATGCTGG -3'
|
Posted On |
2016-06-06 |