Incidental Mutation 'R5552:Arhgap19'
| ID |
435200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap19
|
| Ensembl Gene |
ENSMUSG00000025154 |
| Gene Name |
Rho GTPase activating protein 19 |
| Synonyms |
4933411B03Rik |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41755027-41790486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41772819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 291
(I291M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026150]
[ENSMUST00000163265]
[ENSMUST00000177495]
|
| AlphaFold |
Q8BRH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026150
AA Change: I291M
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026150
Gene: ENSMUSG00000025154
AA Change: I291M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
RhoGAP
|
119 |
305 |
8.26e-41 |
SMART |
|
low complexity region
|
361 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163265
AA Change: I291M
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129586
Gene: ENSMUSG00000025154
AA Change: I291M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
RhoGAP
|
119 |
305 |
8.26e-41 |
SMART |
|
low complexity region
|
361 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176266
|
| SMART Domains |
Protein: ENSMUSP00000134829
Gene: ENSMUSG00000025154
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
2 |
120 |
2e-50 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177495
AA Change: I291M
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135293
Gene: ENSMUSG00000025154
AA Change: I291M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
RhoGAP
|
119 |
305 |
8.26e-41 |
SMART |
|
low complexity region
|
346 |
356 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are viable with no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Arhgap19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01866:Arhgap19
|
APN |
19 |
41,775,016 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03005:Arhgap19
|
APN |
19 |
41,772,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL03077:Arhgap19
|
APN |
19 |
41,769,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0367:Arhgap19
|
UTSW |
19 |
41,790,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0380:Arhgap19
|
UTSW |
19 |
41,761,576 (GRCm39) |
splice site |
probably benign |
|
|
R0755:Arhgap19
|
UTSW |
19 |
41,769,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Arhgap19
|
UTSW |
19 |
41,790,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1738:Arhgap19
|
UTSW |
19 |
41,772,820 (GRCm39) |
missense |
probably benign |
|
|
R1858:Arhgap19
|
UTSW |
19 |
41,767,592 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1980:Arhgap19
|
UTSW |
19 |
41,776,784 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3749:Arhgap19
|
UTSW |
19 |
41,762,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Arhgap19
|
UTSW |
19 |
41,762,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Arhgap19
|
UTSW |
19 |
41,773,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6500:Arhgap19
|
UTSW |
19 |
41,775,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Arhgap19
|
UTSW |
19 |
41,770,802 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8356:Arhgap19
|
UTSW |
19 |
41,762,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Arhgap19
|
UTSW |
19 |
41,761,566 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATAACAGAGAGACTCATTC -3'
(R):5'- ATGTCTGCCCATAACCTTGC -3'
Sequencing Primer
(F):5'- GAGAGACTCATTCTATTTCCATGTC -3'
(R):5'- TGTCCTGTGGCCCAAAAATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation