Incidental Mutation 'R3954:Arhgef19'
ID |
308091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef19
|
Ensembl Gene |
ENSMUSG00000028919 |
Gene Name |
Rho guanine nucleotide exchange factor 19 |
Synonyms |
WGEF, 6430573B13Rik |
MMRRC Submission |
040831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R3954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140966810-140984875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 140983645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 726
(Y726C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006618]
|
AlphaFold |
Q8BWA8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006618
AA Change: Y726C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006618 Gene: ENSMUSG00000028919 AA Change: Y726C
Domain | Start | End | E-Value | Type |
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
RhoGEF
|
380 |
559 |
5.51e-43 |
SMART |
PH
|
593 |
706 |
8.86e-6 |
SMART |
SH3
|
718 |
775 |
5.16e-10 |
SMART |
|
Meta Mutation Damage Score |
0.9138 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (42/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,676,826 (GRCm39) |
Y792H |
probably damaging |
Het |
Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
Nkx6-3 |
G |
T |
8: 23,643,742 (GRCm39) |
A48S |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,097,547 (GRCm39) |
C305R |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
Omd |
A |
T |
13: 49,743,213 (GRCm39) |
I88F |
probably benign |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
possibly damaging |
Het |
|
Other mutations in Arhgef19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00958:Arhgef19
|
APN |
4 |
140,976,294 (GRCm39) |
unclassified |
probably benign |
|
IGL02037:Arhgef19
|
APN |
4 |
140,973,707 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03049:Arhgef19
|
APN |
4 |
140,981,627 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03071:Arhgef19
|
APN |
4 |
140,976,313 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03098:Arhgef19
|
UTSW |
4 |
140,974,879 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0271:Arhgef19
|
UTSW |
4 |
140,977,918 (GRCm39) |
missense |
probably benign |
0.00 |
R0319:Arhgef19
|
UTSW |
4 |
140,983,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1572:Arhgef19
|
UTSW |
4 |
140,982,065 (GRCm39) |
missense |
probably benign |
0.10 |
R1633:Arhgef19
|
UTSW |
4 |
140,965,871 (GRCm39) |
unclassified |
probably benign |
|
R1735:Arhgef19
|
UTSW |
4 |
140,976,929 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1752:Arhgef19
|
UTSW |
4 |
140,978,354 (GRCm39) |
missense |
probably benign |
0.27 |
R1823:Arhgef19
|
UTSW |
4 |
140,976,457 (GRCm39) |
missense |
probably benign |
0.01 |
R1889:Arhgef19
|
UTSW |
4 |
140,976,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R2138:Arhgef19
|
UTSW |
4 |
140,978,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R2280:Arhgef19
|
UTSW |
4 |
140,973,827 (GRCm39) |
missense |
probably benign |
0.14 |
R3430:Arhgef19
|
UTSW |
4 |
140,984,111 (GRCm39) |
missense |
probably benign |
0.03 |
R4158:Arhgef19
|
UTSW |
4 |
140,973,660 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4160:Arhgef19
|
UTSW |
4 |
140,973,660 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4995:Arhgef19
|
UTSW |
4 |
140,974,826 (GRCm39) |
splice site |
probably null |
|
R5031:Arhgef19
|
UTSW |
4 |
140,978,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R5782:Arhgef19
|
UTSW |
4 |
140,983,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R5913:Arhgef19
|
UTSW |
4 |
140,976,609 (GRCm39) |
missense |
probably benign |
0.03 |
R7614:Arhgef19
|
UTSW |
4 |
140,984,090 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8356:Arhgef19
|
UTSW |
4 |
140,977,926 (GRCm39) |
missense |
probably benign |
0.25 |
R8456:Arhgef19
|
UTSW |
4 |
140,977,926 (GRCm39) |
missense |
probably benign |
0.25 |
R8531:Arhgef19
|
UTSW |
4 |
140,976,903 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8876:Arhgef19
|
UTSW |
4 |
140,975,193 (GRCm39) |
missense |
probably benign |
0.28 |
R8931:Arhgef19
|
UTSW |
4 |
140,976,603 (GRCm39) |
missense |
probably damaging |
0.98 |
R8947:Arhgef19
|
UTSW |
4 |
140,973,618 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9019:Arhgef19
|
UTSW |
4 |
140,973,738 (GRCm39) |
missense |
probably benign |
0.29 |
R9036:Arhgef19
|
UTSW |
4 |
140,976,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R9718:Arhgef19
|
UTSW |
4 |
140,976,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTCAGTTCGAGGTGTC -3'
(R):5'- TGGTCTAACCAGATTCCCGAATG -3'
Sequencing Primer
(F):5'- CGAGGTGTCACTGTGAGC -3'
(R):5'- TAACCAGATTCCCGAATGCTGTGG -3'
|
Posted On |
2015-04-17 |