Incidental Mutation 'R8036:Arhgef17'
| ID |
618240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| MMRRC Submission |
067473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100579062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 629
(S629T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107032
AA Change: S629T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: S629T
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,236,818 (GRCm39) |
V1473A |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,120,397 (GRCm39) |
C3604* |
probably null |
Het |
| Alas1 |
A |
G |
9: 106,112,721 (GRCm39) |
I545T |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,491,646 (GRCm39) |
D118E |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,266,625 (GRCm39) |
R558C |
probably damaging |
Het |
| Camk2n1 |
A |
G |
4: 138,184,056 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,804,897 (GRCm39) |
N459S |
unknown |
Het |
| Cenpe |
ACTCTCT |
ACTCT |
3: 134,945,609 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,165,122 (GRCm39) |
I1062V |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,301,962 (GRCm39) |
L256P |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,501,739 (GRCm39) |
M507V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,803 (GRCm39) |
I539T |
probably damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,788 (GRCm39) |
V264E |
probably damaging |
Het |
| Enpp4 |
A |
G |
17: 44,413,136 (GRCm39) |
S133P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,802,048 (GRCm39) |
T476A |
probably benign |
Het |
| Fam20b |
A |
G |
1: 156,533,407 (GRCm39) |
W70R |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,728,566 (GRCm39) |
N508Y |
probably damaging |
Het |
| Fjx1 |
A |
G |
2: 102,280,720 (GRCm39) |
L405P |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,629,310 (GRCm39) |
Q2399* |
probably null |
Het |
| Foxa2 |
G |
C |
2: 147,885,909 (GRCm39) |
T308S |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,723,752 (GRCm39) |
D21G |
unknown |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,119,014 (GRCm39) |
E256G |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,528,414 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamp3 |
C |
A |
16: 19,519,809 (GRCm39) |
D125Y |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,724,823 (GRCm39) |
D128G |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,458,649 (GRCm39) |
C105R |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,060,086 (GRCm39) |
V100E |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,478 (GRCm39) |
S4323P |
possibly damaging |
Het |
| Myoz3 |
T |
G |
18: 60,713,922 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,070,864 (GRCm39) |
N906Y |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,592,276 (GRCm39) |
D352G |
probably benign |
Het |
| Or10x4 |
A |
G |
1: 174,219,382 (GRCm39) |
H249R |
probably damaging |
Het |
| Or51f23 |
A |
T |
7: 102,452,763 (GRCm39) |
H26L |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,186 (GRCm39) |
F223S |
probably benign |
Het |
| Or8w1 |
C |
T |
2: 87,465,847 (GRCm39) |
M81I |
probably benign |
Het |
| Pcsk9 |
G |
A |
4: 106,311,536 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,063,380 (GRCm39) |
I2230T |
possibly damaging |
Het |
| Pou2f3 |
T |
A |
9: 43,058,205 (GRCm39) |
T47S |
probably damaging |
Het |
| Rab8a |
A |
T |
8: 72,928,439 (GRCm39) |
I106F |
probably damaging |
Het |
| Relch |
A |
T |
1: 105,605,902 (GRCm39) |
I181F |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,041,439 (GRCm39) |
S295T |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,098 (GRCm39) |
N222K |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,963 (GRCm39) |
I778L |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,033 (GRCm39) |
T244S |
probably benign |
Het |
| Tmem229b |
C |
A |
12: 79,011,862 (GRCm39) |
C23F |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,389 (GRCm39) |
Y80C |
probably benign |
Het |
| Ube2m |
G |
A |
7: 12,769,566 (GRCm39) |
T176I |
probably benign |
Het |
| Zfp790 |
G |
A |
7: 29,528,346 (GRCm39) |
A344T |
possibly damaging |
Het |
| Zfp90 |
G |
A |
8: 107,145,760 (GRCm39) |
V31M |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,949,918 (GRCm39) |
R659Q |
probably benign |
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 |
|
IGL02551:Arhgef17
|
APN |
7 |
100,579,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGGTGGCACTTTTCGTCTC -3'
(R):5'- AGAGGAAGACCCATTGCCAC -3'
Sequencing Primer
(F):5'- TCTCAGGAGACACAAGGGCC -3'
(R):5'- CACTCGTGGTCCAGGATCAGTATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation