Incidental Mutation 'R9766:Arhgap17'
ID |
733273 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9766 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122921148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 113
(V113A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000205936]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
AlphaFold |
Q3UIA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098060
AA Change: V113A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000095668 Gene: ENSMUSG00000030766 AA Change: V113A
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: V113A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102050 Gene: ENSMUSG00000030766 AA Change: V113A
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: V113A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128447 Gene: ENSMUSG00000030766 AA Change: V113A
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: V113A
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205936
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
AA Change: V113A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207010
AA Change: V113A
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,385,788 (GRCm39) |
V59A |
probably benign |
Het |
Aatk |
A |
T |
11: 119,902,565 (GRCm39) |
H610Q |
probably benign |
Het |
Acox1 |
G |
A |
11: 116,071,867 (GRCm39) |
A187V |
probably damaging |
Het |
Acsbg3 |
A |
G |
17: 57,189,177 (GRCm39) |
Y195C |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,757,570 (GRCm39) |
R76W |
probably damaging |
Het |
Anapc1 |
C |
T |
2: 128,500,221 (GRCm39) |
R808Q |
probably damaging |
Het |
Ankrd26 |
T |
C |
6: 118,500,067 (GRCm39) |
T1135A |
possibly damaging |
Het |
Art3 |
T |
C |
5: 92,562,138 (GRCm39) |
C379R |
unknown |
Het |
Bltp3a |
T |
C |
17: 28,105,799 (GRCm39) |
L775P |
probably damaging |
Het |
Bmp5 |
A |
G |
9: 75,800,982 (GRCm39) |
I371V |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,833,096 (GRCm39) |
E281V |
probably damaging |
Het |
Ces1e |
A |
T |
8: 93,946,031 (GRCm39) |
Y171N |
probably damaging |
Het |
Cib3 |
A |
T |
8: 72,961,034 (GRCm39) |
F68I |
possibly damaging |
Het |
Crtac1 |
A |
T |
19: 42,402,557 (GRCm39) |
L17Q |
possibly damaging |
Het |
Crybg3 |
A |
T |
16: 59,376,207 (GRCm39) |
S1682R |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,465,312 (GRCm39) |
G1323D |
probably damaging |
Het |
Dock3 |
A |
C |
9: 106,788,483 (GRCm39) |
D161E |
probably benign |
Het |
Dpep3 |
A |
C |
8: 106,705,369 (GRCm39) |
L127R |
probably damaging |
Het |
Dus2 |
A |
G |
8: 106,772,568 (GRCm39) |
D226G |
probably damaging |
Het |
Ebna1bp2 |
T |
C |
4: 118,480,821 (GRCm39) |
V184A |
possibly damaging |
Het |
Edem1 |
T |
A |
6: 108,823,648 (GRCm39) |
I348N |
probably damaging |
Het |
Efcab8 |
A |
T |
2: 153,656,362 (GRCm39) |
M599L |
unknown |
Het |
Eif2ak4 |
A |
T |
2: 118,261,313 (GRCm39) |
K618* |
probably null |
Het |
Fbxw27 |
T |
C |
9: 109,602,215 (GRCm39) |
K253E |
possibly damaging |
Het |
Fgf5 |
A |
G |
5: 98,423,113 (GRCm39) |
E166G |
possibly damaging |
Het |
Flot1 |
G |
T |
17: 36,141,555 (GRCm39) |
E321* |
probably null |
Het |
Gm14443 |
T |
C |
2: 175,012,248 (GRCm39) |
E66G |
probably benign |
Het |
Gprc6a |
G |
A |
10: 51,491,884 (GRCm39) |
P622S |
probably damaging |
Het |
Gsta2 |
A |
T |
9: 78,244,876 (GRCm39) |
Y79* |
probably null |
Het |
Hecw2 |
A |
G |
1: 53,904,287 (GRCm39) |
S1154P |
probably damaging |
Het |
Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
Kcnd2 |
T |
C |
6: 21,216,367 (GRCm39) |
S24P |
probably benign |
Het |
Knl1 |
A |
G |
2: 118,900,381 (GRCm39) |
D694G |
probably damaging |
Het |
L1td1 |
T |
C |
4: 98,624,753 (GRCm39) |
I316T |
probably benign |
Het |
Lrsam1 |
G |
T |
2: 32,818,077 (GRCm39) |
Q660K |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,153 (GRCm39) |
T6047S |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,552,383 (GRCm39) |
T4637S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,078,914 (GRCm39) |
Y891H |
probably damaging |
Het |
Nkd2 |
G |
T |
13: 73,995,131 (GRCm39) |
D22E |
possibly damaging |
Het |
Patl2 |
A |
T |
2: 121,954,212 (GRCm39) |
V453E |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,488,313 (GRCm39) |
Y1744H |
probably damaging |
Het |
Phf8-ps |
T |
G |
17: 33,285,647 (GRCm39) |
N385T |
probably damaging |
Het |
Pira2 |
T |
A |
7: 3,845,517 (GRCm39) |
H289L |
possibly damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,158,117 (GRCm39) |
I569T |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,562,735 (GRCm39) |
V568A |
probably benign |
Het |
Ptf1a |
G |
A |
2: 19,451,062 (GRCm39) |
G131S |
probably benign |
Het |
Rasgrf2 |
G |
T |
13: 92,160,188 (GRCm39) |
H396N |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,814,376 (GRCm39) |
T315M |
probably damaging |
Het |
Rnf207 |
C |
A |
4: 152,400,402 (GRCm39) |
R148L |
probably damaging |
Het |
Scn11a |
T |
G |
9: 119,584,181 (GRCm39) |
N1478T |
probably damaging |
Het |
Sdr39u1 |
C |
T |
14: 56,135,194 (GRCm39) |
V250I |
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,471,095 (GRCm39) |
T276A |
probably damaging |
Het |
Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
Stambp |
C |
A |
6: 83,534,469 (GRCm39) |
A273S |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,910,881 (GRCm39) |
|
probably null |
Het |
Tex26 |
A |
T |
5: 149,386,642 (GRCm39) |
Y232F |
probably damaging |
Het |
Tmem258 |
T |
C |
19: 10,184,578 (GRCm39) |
L55P |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,979,630 (GRCm39) |
I755T |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,194,595 (GRCm39) |
Y1163H |
unknown |
Het |
Usp14 |
G |
A |
18: 10,005,630 (GRCm39) |
T254I |
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,247 (GRCm39) |
L2099P |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,042,866 (GRCm39) |
V1962I |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,577,574 (GRCm39) |
T1180A |
probably benign |
Het |
Zfp644 |
C |
A |
5: 106,784,691 (GRCm39) |
G619C |
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 |
|
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 |
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'- TGGGAATCTCCACCTGGAAG -3'
(R):5'- CCCAAAGCTGGACTTGTATTTTAGG -3'
Sequencing Primer
(F):5'- GCTGAATTCTTCAAACAGCAATTACC -3'
(R):5'- GACTTGTATTTTAGGTGATAGCACAC -3'
|
Posted On |
2022-11-14 |