Incidental Mutation 'R5410:Arhgap17'
| ID |
426502 |
| 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 |
042979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5410 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 122896716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000205262]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
| AlphaFold |
Q3UIA2 |
| Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000205262
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206294
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207010
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,134,103 (GRCm39) |
M524V |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,179,838 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Arfgef3 |
T |
G |
10: 18,486,985 (GRCm39) |
I1350L |
probably damaging |
Het |
| Ascl5 |
A |
T |
1: 135,978,926 (GRCm39) |
I129F |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,112,155 (GRCm39) |
N564Y |
probably benign |
Het |
| Cdon |
G |
T |
9: 35,381,331 (GRCm39) |
D574Y |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,070 (GRCm39) |
I334F |
possibly damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Cntn3 |
T |
A |
6: 102,255,314 (GRCm39) |
T195S |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,442,612 (GRCm39) |
H3221Q |
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,687,728 (GRCm39) |
D423G |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,419,297 (GRCm39) |
T696M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,055 (GRCm39) |
M1704T |
unknown |
Het |
| Exoc2 |
A |
G |
13: 31,048,839 (GRCm39) |
F738S |
probably damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,420 (GRCm39) |
E36G |
probably damaging |
Het |
| Galnt1 |
A |
G |
18: 24,400,604 (GRCm39) |
I237V |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,048,374 (GRCm39) |
I416N |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hykk |
G |
A |
9: 54,853,350 (GRCm39) |
C224Y |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,829 (GRCm39) |
T111A |
probably benign |
Het |
| Il17rd |
T |
C |
14: 26,817,868 (GRCm39) |
Y186H |
probably damaging |
Het |
| Klhl29 |
G |
T |
12: 5,141,366 (GRCm39) |
N539K |
probably benign |
Het |
| Lmbr1l |
T |
C |
15: 98,807,143 (GRCm39) |
T213A |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,984,859 (GRCm39) |
R1318Q |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,051,870 (GRCm39) |
A182S |
probably benign |
Het |
| Or13c25 |
C |
A |
4: 52,910,991 (GRCm39) |
A268S |
probably benign |
Het |
| Or1e1 |
C |
T |
11: 73,244,632 (GRCm39) |
P18S |
probably benign |
Het |
| Or4f56 |
C |
T |
2: 111,703,637 (GRCm39) |
A188T |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,436,581 (GRCm39) |
V301E |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,273,906 (GRCm39) |
V130A |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,975 (GRCm39) |
H202L |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,566,241 (GRCm39) |
G136E |
probably null |
Het |
| Prr14l |
C |
A |
5: 32,985,121 (GRCm39) |
R1458L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,205,019 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,235 (GRCm39) |
V182A |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,024 (GRCm39) |
Y645H |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,804,042 (GRCm39) |
I115T |
probably benign |
Het |
| Rc3h1 |
G |
T |
1: 160,792,533 (GRCm39) |
R990L |
possibly damaging |
Het |
| Rdh5 |
T |
A |
10: 128,754,160 (GRCm39) |
Q21L |
probably benign |
Het |
| Rfx8 |
A |
G |
1: 39,749,316 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,203,250 (GRCm39) |
|
probably null |
Het |
| Shank1 |
T |
A |
7: 44,001,246 (GRCm39) |
S988R |
unknown |
Het |
| Slc16a14 |
T |
A |
1: 84,885,145 (GRCm39) |
I465F |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,117,232 (GRCm39) |
|
probably null |
Het |
| Tab2 |
T |
C |
10: 7,795,585 (GRCm39) |
H225R |
possibly damaging |
Het |
| Tbx19 |
T |
A |
1: 164,987,941 (GRCm39) |
N64I |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,677,965 (GRCm39) |
I268K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,293 (GRCm39) |
M388V |
probably benign |
Het |
| Trbv17 |
T |
C |
6: 41,140,472 (GRCm39) |
L109P |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,609,095 (GRCm39) |
H299R |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,076,473 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r63 |
C |
T |
7: 5,806,189 (GRCm39) |
V148I |
possibly damaging |
Het |
| Zfp938 |
A |
C |
10: 82,061,092 (GRCm39) |
H509Q |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,739 (GRCm39) |
V724A |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,829,395 (GRCm39) |
F569L |
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 |
|
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'- AGCCGGAATTCAATACATACTATGC -3'
(R):5'- ATTATCGAGATGCCCTGACAGC -3'
Sequencing Primer
(F):5'- ATTTTAGTGAAACTAAGGGAATCGG -3'
(R):5'- AGATGCCCTGACAGCTTGCAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation