Incidental Mutation 'R0593:Arhgap17'
| ID |
56059 |
| 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 |
038783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0593 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 122885966 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: E644G
|
| SMART Domains |
Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: E644G
| 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: E722G
|
| SMART Domains |
Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: E722G
| 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: E722G
|
| SMART Domains |
Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: E722G
| 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: E644G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206803
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207010
AA Change: E644G
|
| Meta Mutation Damage Score |
0.0891 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
| Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
| Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
| Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
| Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
| Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
| Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
| Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCACTTGCTACTCACCAGTGAC -3'
(R):5'- GCCAAATGTACTTGGGAGTGGACG -3'
Sequencing Primer
(F):5'- ACTCACCAGTGACGATTCTG -3'
(R):5'- TCTAGAGCTGGGGGTCCATAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation