Incidental Mutation 'R6877:Arhgef17'
| ID |
536465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| MMRRC Submission |
044973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6877 (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 100530548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1413
(S1413P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
[ENSMUST00000209041]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107032
AA Change: S1413P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: S1413P
| 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 damaging
Transcript: ENSMUST00000209041
AA Change: S404P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0798 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
94% (47/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
| AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
| Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
| Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
| Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,625 (GRCm39) |
D645G |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
| Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
| Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
| Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,839,501 (GRCm39) |
V682M |
probably damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
| Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
| Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
| Ube3c |
G |
T |
5: 29,792,316 (GRCm39) |
R37L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,505 (GRCm39) |
N51S |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
| Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,973,916 (GRCm39) |
I38T |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
| Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
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 |
|
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'- ACATGAACTCTGGCTCACCC -3'
(R):5'- ATAGTCTTGCTCCCACTTAAGG -3'
Sequencing Primer
(F):5'- GCTCACCCAGCTTCCTCTTGG -3'
(R):5'- CTTAAGGGAAGTGACAGGTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation