Incidental Mutation 'IGL02037:Arhgef19'
| ID |
184568 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.247)
|
| Stock # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140966810-140984875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140973707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 65
(T65A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118740
(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: T65A
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919
AA Change: T65A
| 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 damaging
Transcript: ENSMUST00000125392
AA Change: T65A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135623
AA Change: T65A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119846
Gene: ENSMUSG00000028919
AA Change: T65A
| 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 |
possibly damaging
Transcript: ENSMUST00000141834
AA Change: T65A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147903
AA Change: T1A
|
| SMART Domains |
Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919
AA Change: T1A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184162
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
probably 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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation