Incidental Mutation 'R8935:Arhgef17'
ID |
680574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef17
|
Ensembl Gene |
ENSMUSG00000032875 |
Gene Name |
Rho guanine nucleotide exchange factor 17 |
Synonyms |
|
MMRRC Submission |
068778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8935 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100518959-100581314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100527324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 779
(V779I)
|
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: V1788I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102647 Gene: ENSMUSG00000032875 AA Change: V1788I
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209041
AA Change: V779I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
G |
T |
8: 117,698,181 (GRCm39) |
Q309K |
probably benign |
Het |
Adam20 |
T |
C |
8: 41,247,989 (GRCm39) |
V33A |
probably benign |
Het |
Ank |
T |
C |
15: 27,591,112 (GRCm39) |
V417A |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,929,519 (GRCm39) |
F440I |
possibly damaging |
Het |
Brca2 |
T |
G |
5: 150,492,446 (GRCm39) |
S3154A |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,233,770 (GRCm39) |
E433K |
probably damaging |
Het |
Cep192 |
C |
T |
18: 67,995,543 (GRCm39) |
T970I |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,153,210 (GRCm39) |
T249A |
possibly damaging |
Het |
Cpd |
C |
T |
11: 76,731,295 (GRCm39) |
G304S |
probably damaging |
Het |
Cpsf7 |
T |
A |
19: 10,509,345 (GRCm39) |
Y85* |
probably null |
Het |
Csf3r |
T |
A |
4: 125,937,200 (GRCm39) |
S695T |
probably benign |
Het |
Cyp20a1 |
A |
G |
1: 60,410,473 (GRCm39) |
Q258R |
probably damaging |
Het |
Ddi2 |
A |
T |
4: 141,412,600 (GRCm39) |
L104Q |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,983,066 (GRCm39) |
S733P |
possibly damaging |
Het |
Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
Elapor2 |
C |
T |
5: 9,491,764 (GRCm39) |
T708M |
probably damaging |
Het |
Fgfr3 |
A |
C |
5: 33,892,810 (GRCm39) |
D752A |
probably damaging |
Het |
Fmod |
C |
A |
1: 133,968,586 (GRCm39) |
H209N |
probably benign |
Het |
Gde1 |
C |
T |
7: 118,297,914 (GRCm39) |
E101K |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,109,093 (GRCm39) |
R615Q |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,122 (GRCm39) |
E1343G |
probably damaging |
Het |
Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
G |
1: 166,469,789 (GRCm39) |
Y95H |
probably damaging |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,945,181 (GRCm39) |
|
probably null |
Het |
Haspin |
A |
G |
11: 73,026,890 (GRCm39) |
F733S |
probably damaging |
Het |
Hgh1 |
C |
G |
15: 76,254,592 (GRCm39) |
R323G |
probably damaging |
Het |
Idh1 |
A |
T |
1: 65,204,378 (GRCm39) |
I244N |
probably damaging |
Het |
Idh2 |
T |
C |
7: 79,764,946 (GRCm39) |
T27A |
probably benign |
Het |
Igkv4-69 |
T |
C |
6: 69,260,912 (GRCm39) |
T72A |
possibly damaging |
Het |
Lmntd1 |
A |
G |
6: 145,489,229 (GRCm39) |
Y11H |
probably benign |
Het |
Myt1l |
T |
C |
12: 29,877,243 (GRCm39) |
M298T |
unknown |
Het |
Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,700,294 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,767,586 (GRCm39) |
D180G |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,421 (GRCm39) |
T230A |
possibly damaging |
Het |
Or4k50-ps1 |
A |
T |
2: 111,522,244 (GRCm39) |
Q127L |
unknown |
Het |
Osbpl6 |
T |
C |
2: 76,379,800 (GRCm39) |
V130A |
possibly damaging |
Het |
Prss44 |
T |
A |
9: 110,645,527 (GRCm39) |
I94N |
probably damaging |
Het |
Rbm6 |
C |
T |
9: 107,677,945 (GRCm39) |
V15I |
probably benign |
Het |
Rdh19 |
C |
T |
10: 127,685,929 (GRCm39) |
L14F |
possibly damaging |
Het |
Rtkn |
T |
C |
6: 83,115,196 (GRCm39) |
L14P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,508,402 (GRCm39) |
N3405K |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,950,072 (GRCm39) |
E179G |
probably damaging |
Het |
Sema3e |
A |
T |
5: 14,282,127 (GRCm39) |
K421I |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,193,202 (GRCm39) |
V755M |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,607,436 (GRCm39) |
I1328V |
probably damaging |
Het |
Speg |
A |
T |
1: 75,399,250 (GRCm39) |
K2232N |
probably benign |
Het |
St7l |
A |
G |
3: 104,778,204 (GRCm39) |
I114V |
probably damaging |
Het |
Stkld1 |
C |
T |
2: 26,833,941 (GRCm39) |
Q143* |
probably null |
Het |
Stox2 |
T |
C |
8: 47,645,895 (GRCm39) |
T586A |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,634,988 (GRCm39) |
|
probably null |
Het |
Tectb |
G |
T |
19: 55,183,132 (GRCm39) |
V338L |
probably benign |
Het |
Tiam1 |
T |
C |
16: 89,681,821 (GRCm39) |
N386D |
probably damaging |
Het |
Trps1 |
G |
A |
15: 50,752,344 (GRCm39) |
Q2* |
probably null |
Het |
Usp36 |
C |
T |
11: 118,167,657 (GRCm39) |
|
probably null |
Het |
Vmn1r198 |
C |
T |
13: 22,539,092 (GRCm39) |
Q104* |
probably null |
Het |
Vmn1r38 |
T |
C |
6: 66,753,979 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r110 |
A |
G |
17: 20,803,957 (GRCm39) |
V206A |
probably benign |
Het |
Vmn2r62 |
T |
A |
7: 42,437,791 (GRCm39) |
D231V |
probably benign |
Het |
Zfp143 |
T |
C |
7: 109,669,736 (GRCm39) |
L55P |
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 |
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 |
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'- AGTGCAGTCCCGAATTTGAAG -3'
(R):5'- CCCCAACGTTGAGAGTAGAG -3'
Sequencing Primer
(F):5'- GCAGTCCCGAATTTGAAGTCTCAG -3'
(R):5'- TCTGTGGGAAGCACCTTA -3'
|
Posted On |
2021-08-31 |