Incidental Mutation 'R5031:Arhgef19'
ID |
391683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef19
|
Ensembl Gene |
ENSMUSG00000028919 |
Gene Name |
Rho guanine nucleotide exchange factor 19 |
Synonyms |
WGEF, 6430573B13Rik |
MMRRC Submission |
042622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R5031 (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 140978121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 580
(E580G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006618]
[ENSMUST00000125392]
[ENSMUST00000135623]
[ENSMUST00000138096]
[ENSMUST00000141834]
[ENSMUST00000147903]
|
AlphaFold |
Q8BWA8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006618
AA Change: E580G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006618 Gene: ENSMUSG00000028919 AA Change: E580G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125392
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135623
|
SMART Domains |
Protein: ENSMUSP00000119846 Gene: ENSMUSG00000028919
Domain | Start | End | E-Value | Type |
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140536
|
SMART Domains |
Protein: ENSMUSP00000114784 Gene: ENSMUSG00000028919
Domain | Start | End | E-Value | Type |
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141834
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147903
|
SMART Domains |
Protein: ENSMUSP00000120088 Gene: ENSMUSG00000028919
Domain | Start | End | E-Value | Type |
low complexity region
|
147 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184162
|
Meta Mutation Damage Score |
0.2754 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gsap |
G |
A |
5: 21,447,824 (GRCm39) |
S294N |
possibly damaging |
Het |
Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,102 (GRCm39) |
M134T |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
Nabp2 |
G |
A |
10: 128,245,497 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
Trappc12 |
T |
A |
12: 28,742,512 (GRCm39) |
I682L |
possibly damaging |
Het |
Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
probably benign |
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 |
R3954:Arhgef19
|
UTSW |
4 |
140,983,645 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- AGCTCAGAGGGTTAGAGCTGTG -3'
(R):5'- CTGGACAGCTTCAGTTTGGC -3'
Sequencing Primer
(F):5'- TGGGCATCTGAGAGCCATGTC -3'
(R):5'- CAGCTTCAGTTTGGCTGGCG -3'
|
Posted On |
2016-06-06 |