Incidental Mutation 'IGL03098:Arhgef19'
ID |
452969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef19
|
Ensembl Gene |
ENSMUSG00000028919 |
Gene Name |
Rho guanine nucleotide exchange factor 19 |
Synonyms |
WGEF, 6430573B13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
IGL03098 (G1)
|
Quality Score |
199 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140966810-140984875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 140974879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 113
(D113G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006618]
[ENSMUST00000125392]
[ENSMUST00000135623]
[ENSMUST00000138096]
[ENSMUST00000141834]
[ENSMUST00000147903]
|
AlphaFold |
Q8BWA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006618
AA Change: D271G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000006618 Gene: ENSMUSG00000028919 AA Change: D271G
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 |
possibly damaging
Transcript: ENSMUST00000147903
AA Change: D113G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120088 Gene: ENSMUSG00000028919 AA Change: D113G
Domain | Start | End | E-Value | Type |
low complexity region
|
147 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184162
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
92% (44/48) |
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 |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
Btnl2 |
T |
C |
17: 34,584,190 (GRCm39) |
V371A |
probably benign |
Het |
Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,826,567 (GRCm39) |
M1K |
probably null |
Het |
Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
Rnmt |
G |
A |
18: 68,439,073 (GRCm39) |
V61M |
probably damaging |
Het |
Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,327,467 (GRCm39) |
I390T |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
probably null |
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 |
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 |
|
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'- TGTTTTCTGTAGGGAAACTGCC -3'
(R):5'- TAGTCCCTGGGAGTGCAATTC -3'
Sequencing Primer
(F):5'- GGGAAACTGCCCGTGAG -3'
(R):5'- TGGGAGTGCAATTCTCTTCC -3'
|
Posted On |
2017-01-24 |