Incidental Mutation 'R8072:Arhgef17'
ID |
620288 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef17
|
Ensembl Gene |
ENSMUSG00000032875 |
Gene Name |
Rho guanine nucleotide exchange factor 17 |
Synonyms |
|
MMRRC Submission |
067507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8072 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100531004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 352
(T352S)
|
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: T1361S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102647 Gene: ENSMUSG00000032875 AA Change: T1361S
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 benign
Transcript: ENSMUST00000209041
AA Change: T352S
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,244,574 (GRCm39) |
S2146P |
probably benign |
Het |
Acad9 |
G |
A |
3: 36,129,404 (GRCm39) |
V160I |
probably benign |
Het |
Ace |
T |
C |
11: 105,863,785 (GRCm39) |
V411A |
probably damaging |
Het |
Ankrd66 |
T |
C |
17: 43,854,526 (GRCm39) |
E2G |
possibly damaging |
Het |
Apol6 |
A |
T |
15: 76,935,303 (GRCm39) |
T191S |
probably benign |
Het |
Atad2 |
C |
T |
15: 57,963,374 (GRCm39) |
R1081Q |
possibly damaging |
Het |
Atg3 |
G |
T |
16: 45,008,048 (GRCm39) |
V297F |
probably damaging |
Het |
Atp9b |
A |
C |
18: 80,808,276 (GRCm39) |
S663A |
|
Het |
Col10a1 |
G |
T |
10: 34,266,663 (GRCm39) |
V16F |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,360,734 (GRCm39) |
V55I |
unknown |
Het |
Ctns |
T |
C |
11: 73,082,572 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2b23 |
A |
T |
7: 26,365,431 (GRCm39) |
I468N |
probably damaging |
Het |
Dcbld2 |
G |
A |
16: 58,283,460 (GRCm39) |
W565* |
probably null |
Het |
Esco2 |
A |
T |
14: 66,070,130 (GRCm39) |
N16K |
probably benign |
Het |
Fggy |
A |
G |
4: 95,732,394 (GRCm39) |
N462D |
possibly damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
C |
1: 166,322,241 (GRCm39) |
T109A |
probably benign |
Het |
H2-M11 |
G |
T |
17: 36,859,026 (GRCm39) |
V189L |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,532,256 (GRCm39) |
T3175S |
possibly damaging |
Het |
Hook2 |
G |
A |
8: 85,721,120 (GRCm39) |
V184M |
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,741,178 (GRCm39) |
D730V |
probably damaging |
Het |
Igkv4-68 |
C |
T |
6: 69,282,113 (GRCm39) |
M19I |
probably benign |
Het |
Igsf9b |
C |
A |
9: 27,228,660 (GRCm39) |
T140N |
possibly damaging |
Het |
Kcnj1 |
G |
A |
9: 32,308,593 (GRCm39) |
R339Q |
probably damaging |
Het |
Lcn8 |
T |
G |
2: 25,545,184 (GRCm39) |
L118W |
probably damaging |
Het |
Lin28a |
A |
G |
4: 133,745,453 (GRCm39) |
F47L |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,596,021 (GRCm39) |
E144G |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrgprb1 |
C |
A |
7: 48,097,895 (GRCm39) |
E6* |
probably null |
Het |
Mthfsd |
A |
C |
8: 121,825,555 (GRCm39) |
Y339D |
probably damaging |
Het |
Mup11 |
A |
T |
4: 60,615,777 (GRCm39) |
F153L |
probably damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
Plpp7 |
G |
T |
2: 31,986,121 (GRCm39) |
A100S |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,774 (GRCm39) |
T300A |
possibly damaging |
Het |
Ptprd |
A |
G |
4: 76,004,273 (GRCm39) |
F161L |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,007,930 (GRCm39) |
A875V |
possibly damaging |
Het |
Rhd |
A |
G |
4: 134,611,460 (GRCm39) |
T207A |
possibly damaging |
Het |
Sh2d3c |
C |
T |
2: 32,643,150 (GRCm39) |
R778C |
probably damaging |
Het |
Slc34a3 |
A |
C |
2: 25,119,289 (GRCm39) |
V527G |
probably benign |
Het |
Smad2 |
T |
C |
18: 76,420,022 (GRCm39) |
|
probably null |
Het |
Sp110 |
GTACT |
GTACTACT |
1: 85,515,207 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,839,317 (GRCm39) |
Q611* |
probably null |
Het |
Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
Tial1 |
T |
C |
7: 128,044,194 (GRCm39) |
T107A |
unknown |
Het |
Ubxn6 |
C |
A |
17: 56,380,195 (GRCm39) |
R42L |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,947,142 (GRCm39) |
N473I |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,969,133 (GRCm39) |
Y351* |
probably null |
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 |
R8036:Arhgef17
|
UTSW |
7 |
100,579,062 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAAGCCAAGACTGTCTGTCCC -3'
(R):5'- GTGACTCTAAACCAGACCTCTC -3'
Sequencing Primer
(F):5'- AAGACTGTCTGTCCCTCAGG -3'
(R):5'- TTTCTGAGAGCTACCTGTTGAC -3'
|
Posted On |
2020-01-23 |