Incidental Mutation 'IGL02551:Arhgef17'
| ID |
298076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100579553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 465
(E465G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107032
AA Change: E465G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: E465G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
984 |
N/A |
INTRINSIC |
|
RhoGEF
|
1063 |
1246 |
9.56e-61 |
SMART |
|
Blast:PH
|
1281 |
1466 |
4e-88 |
BLAST |
|
low complexity region
|
1582 |
1595 |
N/A |
INTRINSIC |
|
low complexity region
|
1630 |
1642 |
N/A |
INTRINSIC |
|
low complexity region
|
1646 |
1657 |
N/A |
INTRINSIC |
|
low complexity region
|
1661 |
1701 |
N/A |
INTRINSIC |
|
low complexity region
|
1708 |
1719 |
N/A |
INTRINSIC |
|
low complexity region
|
2033 |
2040 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,800,006 (GRCm39) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,554,599 (GRCm39) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,293,083 (GRCm39) |
Y101N |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,465,485 (GRCm39) |
S80C |
probably damaging |
Het |
| Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm39) |
D40G |
probably benign |
Het |
| Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
possibly damaging |
Het |
|
| Other mutations in Arhgef17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Arhgef17
|
APN |
7 |
100,578,656 (GRCm39) |
missense |
probably benign |
|
|
IGL01071:Arhgef17
|
APN |
7 |
100,534,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01882:Arhgef17
|
APN |
7 |
100,527,787 (GRCm39) |
nonsense |
probably null |
|
|
IGL01995:Arhgef17
|
APN |
7 |
100,577,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02213:Arhgef17
|
APN |
7 |
100,539,633 (GRCm39) |
missense |
probably benign |
|
|
IGL02380:Arhgef17
|
APN |
7 |
100,578,650 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02613:Arhgef17
|
APN |
7 |
100,578,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Arhgef17
|
APN |
7 |
100,533,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02798:Arhgef17
|
APN |
7 |
100,578,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03113:Arhgef17
|
APN |
7 |
100,578,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03264:Arhgef17
|
APN |
7 |
100,529,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1Funyon:Arhgef17
|
UTSW |
7 |
100,528,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Arhgef17
|
UTSW |
7 |
100,530,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0189:Arhgef17
|
UTSW |
7 |
100,578,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Arhgef17
|
UTSW |
7 |
100,529,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Arhgef17
|
UTSW |
7 |
100,579,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1295:Arhgef17
|
UTSW |
7 |
100,530,476 (GRCm39) |
nonsense |
probably null |
|
|
R1296:Arhgef17
|
UTSW |
7 |
100,530,476 (GRCm39) |
nonsense |
probably null |
|
|
R1389:Arhgef17
|
UTSW |
7 |
100,580,244 (GRCm39) |
small deletion |
probably benign |
|
|
R1466:Arhgef17
|
UTSW |
7 |
100,578,866 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1466:Arhgef17
|
UTSW |
7 |
100,578,866 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1513:Arhgef17
|
UTSW |
7 |
100,580,069 (GRCm39) |
missense |
probably benign |
|
|
R1539:Arhgef17
|
UTSW |
7 |
100,539,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Arhgef17
|
UTSW |
7 |
100,578,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Arhgef17
|
UTSW |
7 |
100,579,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Arhgef17
|
UTSW |
7 |
100,531,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Arhgef17
|
UTSW |
7 |
100,528,184 (GRCm39) |
missense |
probably benign |
|
|
R2009:Arhgef17
|
UTSW |
7 |
100,530,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2095:Arhgef17
|
UTSW |
7 |
100,530,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Arhgef17
|
UTSW |
7 |
100,578,111 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3607:Arhgef17
|
UTSW |
7 |
100,580,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Arhgef17
|
UTSW |
7 |
100,525,661 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4089:Arhgef17
|
UTSW |
7 |
100,533,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Arhgef17
|
UTSW |
7 |
100,531,515 (GRCm39) |
splice site |
probably benign |
|
|
R4536:Arhgef17
|
UTSW |
7 |
100,579,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4548:Arhgef17
|
UTSW |
7 |
100,580,336 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4616:Arhgef17
|
UTSW |
7 |
100,531,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Arhgef17
|
UTSW |
7 |
100,526,032 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5100:Arhgef17
|
UTSW |
7 |
100,530,963 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5233:Arhgef17
|
UTSW |
7 |
100,530,576 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5307:Arhgef17
|
UTSW |
7 |
100,578,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5313:Arhgef17
|
UTSW |
7 |
100,578,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5643:Arhgef17
|
UTSW |
7 |
100,529,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Arhgef17
|
UTSW |
7 |
100,530,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Arhgef17
|
UTSW |
7 |
100,525,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Arhgef17
|
UTSW |
7 |
100,579,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Arhgef17
|
UTSW |
7 |
100,579,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Arhgef17
|
UTSW |
7 |
100,527,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6877:Arhgef17
|
UTSW |
7 |
100,530,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Arhgef17
|
UTSW |
7 |
100,580,027 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7016:Arhgef17
|
UTSW |
7 |
100,528,184 (GRCm39) |
missense |
probably benign |
|
|
R7073:Arhgef17
|
UTSW |
7 |
100,579,198 (GRCm39) |
nonsense |
probably null |
|
|
R7322:Arhgef17
|
UTSW |
7 |
100,527,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7691:Arhgef17
|
UTSW |
7 |
100,578,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Arhgef17
|
UTSW |
7 |
100,529,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Arhgef17
|
UTSW |
7 |
100,579,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7829:Arhgef17
|
UTSW |
7 |
100,526,052 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8036:Arhgef17
|
UTSW |
7 |
100,579,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Arhgef17
|
UTSW |
7 |
100,531,004 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8301:Arhgef17
|
UTSW |
7 |
100,528,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8935:Arhgef17
|
UTSW |
7 |
100,527,324 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8958:Arhgef17
|
UTSW |
7 |
100,579,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9221:Arhgef17
|
UTSW |
7 |
100,528,818 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9362:Arhgef17
|
UTSW |
7 |
100,580,165 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9499:Arhgef17
|
UTSW |
7 |
100,526,102 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9593:Arhgef17
|
UTSW |
7 |
100,532,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Arhgef17
|
UTSW |
7 |
100,578,111 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2015-04-16 |
Incidental Mutation