Incidental Mutation 'R7342:Arhgap17'
| ID |
569940 |
| 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 |
045432-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122926467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 65
(R65G)
|
| 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 damaging
Transcript: ENSMUST00000098060
AA Change: R65G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: R65G
| 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 damaging
Transcript: ENSMUST00000106442
AA Change: R65G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: R65G
| 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 damaging
Transcript: ENSMUST00000167309
AA Change: R65G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: R65G
| 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 damaging
Transcript: ENSMUST00000205262
AA Change: R65G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205936
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206117
AA Change: R65G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207010
AA Change: R65G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6973 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
G |
11: 101,308,018 (GRCm39) |
T28P |
probably benign |
Het |
| Abcc1 |
C |
A |
16: 14,283,033 (GRCm39) |
R1170S |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,566,304 (GRCm39) |
N568S |
probably benign |
Het |
| Arid4b |
A |
C |
13: 14,310,804 (GRCm39) |
I136L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,873,304 (GRCm39) |
G29V |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,784,676 (GRCm39) |
T320A |
probably damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,686 (GRCm39) |
V228M |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,691,536 (GRCm39) |
H450L |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,692 (GRCm39) |
N599K |
possibly damaging |
Het |
| Cblif |
A |
T |
19: 11,740,587 (GRCm39) |
H407L |
probably benign |
Het |
| Cel |
A |
T |
2: 28,450,649 (GRCm39) |
Y125* |
probably null |
Het |
| Cfi |
T |
A |
3: 129,668,781 (GRCm39) |
N602K |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,713,887 (GRCm39) |
A190T |
probably damaging |
Het |
| Cmklr1 |
C |
T |
5: 113,752,354 (GRCm39) |
V216M |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,852 (GRCm39) |
T128A |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,710,610 (GRCm39) |
T342A |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,041 (GRCm39) |
E298G |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,957,040 (GRCm39) |
E307V |
probably benign |
Het |
| Cxcl10 |
T |
A |
5: 92,496,029 (GRCm39) |
D36V |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,432 (GRCm39) |
T73A |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,629,208 (GRCm39) |
E1449A |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,919,552 (GRCm39) |
M683T |
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,396,760 (GRCm39) |
W241L |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,621,033 (GRCm39) |
I219V |
probably benign |
Het |
| Gtf2f2 |
T |
C |
14: 76,144,317 (GRCm39) |
D179G |
probably damaging |
Het |
| Ighg2b |
A |
G |
12: 113,270,050 (GRCm39) |
Y323H |
|
Het |
| Itpr2 |
A |
T |
6: 146,228,685 (GRCm39) |
H1303Q |
probably damaging |
Het |
| Kif1b |
A |
C |
4: 149,298,547 (GRCm39) |
Y1040D |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,653,186 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,309,634 (GRCm39) |
V2755A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,619,431 (GRCm39) |
C606S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,917 (GRCm39) |
E6217G |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,418 (GRCm39) |
V1687A |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,864 (GRCm39) |
F15I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,679 (GRCm39) |
S1605T |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,210,831 (GRCm39) |
E419G |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,985,295 (GRCm39) |
T103I |
probably benign |
Het |
| Or8c18 |
A |
G |
9: 38,203,574 (GRCm39) |
Y111C |
probably damaging |
Het |
| Paip2b |
T |
A |
6: 83,791,808 (GRCm39) |
S25C |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,160,709 (GRCm39) |
R53C |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,411,608 (GRCm39) |
T808A |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,520 (GRCm39) |
I218K |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,232,549 (GRCm39) |
D872G |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,977 (GRCm39) |
*325W |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,237,151 (GRCm38) |
V1390A |
possibly damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,033,771 (GRCm39) |
T2A |
probably damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,042 (GRCm39) |
N214D |
unknown |
Het |
| Scp2 |
T |
A |
4: 107,948,518 (GRCm39) |
Y197F |
probably benign |
Het |
| Sftpb |
G |
A |
6: 72,286,858 (GRCm39) |
R254H |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,378,555 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,806,125 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
T |
5: 31,693,634 (GRCm39) |
L523F |
possibly damaging |
Het |
| Spats2l |
C |
A |
1: 57,925,106 (GRCm39) |
T168K |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,260,456 (GRCm39) |
S360G |
possibly damaging |
Het |
| Taf1b |
A |
T |
12: 24,608,343 (GRCm39) |
K581* |
probably null |
Het |
| Tfip11 |
T |
A |
5: 112,475,838 (GRCm39) |
M1K |
probably null |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,551,583 (GRCm39) |
H48Y |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,703 (GRCm39) |
L1346P |
probably damaging |
Het |
| Vmac |
T |
C |
17: 57,022,644 (GRCm39) |
E122G |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,138 (GRCm39) |
V172A |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,648,014 (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 |
|
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 |
|
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'- ATGGAGGGAAAACTTTGTGGTC -3'
(R):5'- ACCCAAGAGCTGAGCAGTTG -3'
Sequencing Primer
(F):5'- AAAACTTTGTGGTCAGGTGCCC -3'
(R):5'- GTTGCACTGCAGCTTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation