Incidental Mutation 'R7016:Arhgef17'
ID |
545303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef17
|
Ensembl Gene |
ENSMUSG00000032875 |
Gene Name |
Rho guanine nucleotide exchange factor 17 |
Synonyms |
|
MMRRC Submission |
045117-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7016 (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 G
at 100528184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 677
(S677P)
|
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: S1686P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102647 Gene: ENSMUSG00000032875 AA Change: S1686P
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 |
noncoding transcript
Transcript: ENSMUST00000175555
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208482
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208735
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209041
AA Change: S677P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
Actn1 |
T |
A |
12: 80,219,742 (GRCm39) |
M710L |
possibly damaging |
Het |
Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,443,977 (GRCm39) |
D2G |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,300,583 (GRCm39) |
E960G |
unknown |
Het |
Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
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 |
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'- CTTGGGTTTCAAGCCCTCTG -3'
(R):5'- AAGGCCTTAGCAGATACGGG -3'
Sequencing Primer
(F):5'- GGGTTTCAAGCCCTCTGGTACC -3'
(R):5'- CCAGGGGTAGGAGCGATGTG -3'
|
Posted On |
2019-05-13 |