Incidental Mutation 'R5040:Arhgef17'
| ID |
393172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100526032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 874
(D874G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
[ENSMUST00000209041]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107032
AA Change: D1883G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: D1883G
| 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 |
unknown
Transcript: ENSMUST00000208482
AA Change: D275G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209041
AA Change: D874G
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTATAGTCAGCACGACC -3'
(R):5'- TCTAGAGAACTAGTCTGTGGAGAGC -3'
Sequencing Primer
(F):5'- TGATCCTCAGGCAGGCTG -3'
(R):5'- AACTAGTCTGTGGAGAGCTATATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation