Incidental Mutation 'R7724:Arhgef17'
| ID |
595393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| MMRRC Submission |
045780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100529816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 480
(G480S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
[ENSMUST00000209041]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107032
AA Change: G1489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: G1489S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208482
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209041
AA Change: G480S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
C |
15: 57,885,857 (GRCm39) |
S342A |
probably benign |
Het |
| Adarb2 |
C |
A |
13: 8,620,292 (GRCm39) |
H259Q |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,682,289 (GRCm39) |
I150N |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,567 (GRCm39) |
I75N |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,604,060 (GRCm39) |
Y208H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,813 (GRCm39) |
N1168Y |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,686 (GRCm39) |
N148D |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,700 (GRCm39) |
D765Y |
probably damaging |
Het |
| Celf4 |
C |
T |
18: 25,619,850 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
G |
A |
10: 41,621,838 (GRCm39) |
T26M |
possibly damaging |
Het |
| Ces2g |
T |
A |
8: 105,693,484 (GRCm39) |
D388E |
probably benign |
Het |
| Cir1 |
T |
C |
2: 73,137,234 (GRCm39) |
N69S |
possibly damaging |
Het |
| Ctc1 |
C |
A |
11: 68,917,170 (GRCm39) |
H355N |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,661,489 (GRCm39) |
K539M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,175,622 (GRCm39) |
G1697E |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,936,432 (GRCm39) |
D76G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,642,894 (GRCm39) |
S1786T |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,229,888 (GRCm39) |
E18D |
probably damaging |
Het |
| Gbp8 |
A |
T |
5: 105,179,160 (GRCm39) |
I113N |
probably damaging |
Het |
| Gm10549 |
A |
T |
18: 33,603,912 (GRCm39) |
R132* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,893,074 (GRCm39) |
D126E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,472,074 (GRCm39) |
Y472H |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,789 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,230,323 (GRCm39) |
N187S |
unknown |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,405 (GRCm39) |
K351E |
probably benign |
Het |
| Klhl23 |
A |
G |
2: 69,655,056 (GRCm39) |
T309A |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,877 (GRCm39) |
V19A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,534,170 (GRCm39) |
R243C |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,243 (GRCm39) |
I1158R |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,833 (GRCm39) |
Y613N |
probably damaging |
Het |
| Myoc |
T |
A |
1: 162,467,396 (GRCm39) |
|
probably null |
Het |
| Npas3 |
C |
A |
12: 54,115,124 (GRCm39) |
S682Y |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,274,887 (GRCm39) |
V172A |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,208 (GRCm39) |
H179Q |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,735,470 (GRCm39) |
C243* |
probably null |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,459 (GRCm39) |
Y52H |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,338,949 (GRCm39) |
T49A |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,775 (GRCm39) |
S32T |
possibly damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,436 (GRCm39) |
I331F |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,937 (GRCm39) |
T348S |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,746 (GRCm39) |
E185G |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,600,576 (GRCm39) |
K200E |
possibly damaging |
Het |
| Sema6c |
A |
T |
3: 95,080,510 (GRCm39) |
R935W |
probably damaging |
Het |
| Serpinb5 |
A |
T |
1: 106,802,872 (GRCm39) |
I136F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,622,289 (GRCm39) |
Y31* |
probably null |
Het |
| St6galnac1 |
C |
T |
11: 116,656,898 (GRCm39) |
|
probably null |
Het |
| Synj1 |
G |
A |
16: 90,758,387 (GRCm39) |
T819M |
probably damaging |
Het |
| Tacr3 |
T |
A |
3: 134,635,669 (GRCm39) |
V291E |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,875,390 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,036,291 (GRCm39) |
D72E |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,727 (GRCm39) |
T438A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,187 (GRCm39) |
T525A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,940,270 (GRCm39) |
C384S |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,170 (GRCm39) |
D290G |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,805,919 (GRCm39) |
L18P |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATCTACAGCCTGTGCAC -3'
(R):5'- TGACCTCTCATTCTAGCTGAGC -3'
Sequencing Primer
(F):5'- ATCTACAGCCTGTGCACATATG -3'
(R):5'- ATTCTAGCTGAGCTGGTACCCG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation