Incidental Mutation 'R9499:Arhgef17'
| ID |
717427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef17
|
| Ensembl Gene |
ENSMUSG00000032875 |
| Gene Name |
Rho guanine nucleotide exchange factor 17 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9499 (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 C
at 100526102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 851
(M851V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107032]
[ENSMUST00000209041]
|
| AlphaFold |
Q80U35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107032
AA Change: M1860V
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: M1860V
| 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 |
possibly damaging
Transcript: ENSMUST00000209041
AA Change: M851V
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
| Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,260,940 (GRCm39) |
H1455L |
|
Het |
| Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep120 |
C |
A |
18: 53,819,033 (GRCm39) |
R886L |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Depdc7 |
C |
T |
2: 104,553,220 (GRCm39) |
|
probably null |
Het |
| Dnaaf11 |
T |
C |
15: 66,361,483 (GRCm39) |
E6G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
| Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
| Gm14401 |
C |
T |
2: 176,778,337 (GRCm39) |
A141V |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,638,179 (GRCm39) |
K418E |
probably benign |
Het |
| Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,544,058 (GRCm39) |
S116P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
| Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
| Inpp5f |
A |
T |
7: 128,295,437 (GRCm39) |
I744F |
possibly damaging |
Het |
| Kif14 |
C |
A |
1: 136,455,219 (GRCm39) |
S1630R |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,000,434 (GRCm39) |
T544A |
probably damaging |
Het |
| Mbl2 |
G |
A |
19: 30,216,664 (GRCm39) |
A159T |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,813,152 (GRCm39) |
T388A |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,064,673 (GRCm39) |
E215V |
|
Het |
| Nmd3 |
T |
C |
3: 69,647,329 (GRCm39) |
V277A |
possibly damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
| Patl1 |
T |
A |
19: 11,897,728 (GRCm39) |
M105K |
possibly damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,855 (GRCm39) |
D937G |
probably damaging |
Het |
| Phb1 |
G |
A |
11: 95,562,257 (GRCm39) |
V45I |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
| Piezo2 |
T |
C |
18: 63,166,033 (GRCm39) |
E2066G |
possibly damaging |
Het |
| Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
| Polr1b |
C |
T |
2: 128,957,684 (GRCm39) |
R580* |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,404,480 (GRCm39) |
E192G |
probably damaging |
Het |
| Rpain |
T |
C |
11: 70,865,816 (GRCm39) |
S194P |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,696,982 (GRCm39) |
D107E |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
| Sult2a8 |
A |
C |
7: 14,157,487 (GRCm39) |
V116G |
probably damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
| Vmn1r24 |
T |
A |
6: 57,933,150 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,584 (GRCm39) |
N355Y |
probably damaging |
Het |
| Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
| Zfp1005 |
C |
A |
2: 150,109,856 (GRCm39) |
T182K |
unknown |
Het |
| Zfp595 |
A |
T |
13: 67,465,067 (GRCm39) |
S402T |
probably damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,621 (GRCm39) |
E266G |
probably damaging |
Het |
| Zfp827 |
T |
G |
8: 79,787,403 (GRCm39) |
W190G |
probably damaging |
Het |
| Zscan4c |
T |
C |
7: 10,740,853 (GRCm39) |
V124A |
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 |
|
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 |
|
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 |
|
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'- AGCATCTTTGAGCCTGTAGG -3'
(R):5'- GGGCAAGCTTTGAAATTAATCAACC -3'
Sequencing Primer
(F):5'- CTGTAGGCTGACCGTGTCAAG -3'
(R):5'- GCTCTCGATCTGGGCAGGTATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation