Incidental Mutation 'RF015:Arhgap17'
| ID |
603480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap17
|
| Ensembl Gene |
ENSMUSG00000030766 |
| Gene Name |
Rho GTPase activating protein 17 |
| Synonyms |
Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF015 (G1)
|
| Quality Score |
121.679 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CTGTTGTTG to CTGTTG
at 122886085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102050
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
|
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
|
| SMART Domains |
Protein: ENSMUSP00000128447
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
|
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 |
probably benign
Transcript: ENSMUST00000206117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207010
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,824 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,822 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,819 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
GAA |
G |
5: 8,946,594 (GRCm39) |
|
probably null |
Het |
| Agap1 |
T |
A |
1: 89,561,985 (GRCm39) |
Y214* |
probably null |
Het |
| Arid1a |
AGGC |
A |
4: 133,480,142 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,457,297 (GRCm39) |
F82L |
probably damaging |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAGTATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGGGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,345,221 (GRCm39) |
F683L |
probably benign |
Het |
| Cep131 |
CTGTTGTT |
CTGTTGTTGTT |
11: 119,963,794 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
GGAGGAGGAGGAG |
GGAGGAGGAGGAGGAG |
5: 123,392,305 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
TCTCA |
T |
5: 123,412,224 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCGGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GACACA |
GACACAGTGCCCAAGGATGTGACATACACA |
9: 86,922,485 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CTGCCCAGGGA |
CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
| Cyria |
T |
A |
12: 12,419,939 (GRCm39) |
S294R |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,895,141 (GRCm39) |
D3557N |
probably damaging |
Het |
| Dnmt1 |
GGAGCACAGTTCCTACCTCGTT |
GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT |
9: 20,821,420 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
| Gatad1 |
A |
T |
5: 3,697,523 (GRCm39) |
C33S |
possibly damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,374,476 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Hsdl2 |
GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,640 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
AGCACATTG |
AGCACATTGCGCACATTG |
6: 145,119,509 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCCAC |
TGCCACTGCTGCGGCCAC |
3: 92,925,455 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,447 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
GGACAAGCTGTGAGTTGGGGAACCCGGGAG |
GG |
13: 102,875,755 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
T |
A |
15: 103,927,696 (GRCm39) |
N87I |
probably benign |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
C |
2: 31,924,718 (GRCm39) |
V1749A |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,719,255 (GRCm39) |
I194V |
probably damaging |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,855 (GRCm39) |
N417Y |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,565,283 (GRCm39) |
L16F |
unknown |
Het |
| Pik3c2g |
T |
A |
6: 139,700,497 (GRCm39) |
N262K |
|
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
| Rnf41 |
C |
T |
10: 128,271,279 (GRCm39) |
A63V |
probably benign |
Het |
| Sirt1 |
C |
T |
10: 63,172,795 (GRCm39) |
A163T |
probably damaging |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Skor2 |
A |
G |
18: 76,948,483 (GRCm39) |
E735G |
probably damaging |
Het |
| Slc26a8 |
TCTCTGGCTCTGGCTCTGGCTCTGGCTC |
TCTCTGGCTCTGGCTCTGGCTC |
17: 28,857,315 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
TTCG |
6: 146,754,161 (GRCm39) |
|
probably benign |
Het |
| Strada |
A |
G |
11: 106,061,846 (GRCm39) |
I172T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,252,248 (GRCm39) |
I2469V |
probably benign |
Het |
| Tcof1 |
C |
CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA |
18: 60,966,656 (GRCm39) |
|
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
| Ttll7 |
T |
A |
3: 146,685,413 (GRCm39) |
F882L |
probably benign |
Het |
| Usp2 |
TGTGACCTGTTCTTCACTTAC |
TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC |
9: 44,000,406 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
A |
G |
11: 93,776,287 (GRCm39) |
L66P |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,371,405 (GRCm39) |
E186K |
possibly damaging |
Het |
| Zfp384 |
AGGCCCAGGCCC |
AGGCCCAGGCCCCGGCCCAGGCCC |
6: 125,013,444 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,356,882 (GRCm39) |
I703V |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,920,338 (GRCm39) |
H609R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATTCTGCTTGGCCAGG -3'
(R):5'- GCCAAATGTACTTGGGAGTGG -3'
Sequencing Primer
(F):5'- CCAGGGGTGGGGTGCTAG -3'
(R):5'- TCTAGAGCTGGGGGTCCATACAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation