Incidental Mutation 'IGL03077:Arhgap19'
| ID |
417727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap19
|
| Ensembl Gene |
ENSMUSG00000025154 |
| Gene Name |
Rho GTPase activating protein 19 |
| Synonyms |
4933411B03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41755027-41790486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41769760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 341
(H341L)
|
| 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: H341L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000026150
Gene: ENSMUSG00000025154
AA Change: H341L
| 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: H341L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129586
Gene: ENSMUSG00000025154
AA Change: H341L
| 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 |
unknown
Transcript: ENSMUST00000176266
AA Change: H5L
|
| SMART Domains |
Protein: ENSMUSP00000134829
Gene: ENSMUSG00000025154
AA Change: H5L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
2 |
120 |
2e-50 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177495
|
| SMART Domains |
Protein: ENSMUSP00000135293
Gene: ENSMUSG00000025154
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
| Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
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 |
|
|
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 |
|
R5552:Arhgap19
|
UTSW |
19 |
41,772,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation