Incidental Mutation 'IGL03005:Arhgap19'
ID |
407531 |
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 # |
IGL03005
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41755027-41790486 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 41772856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135293
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026150]
[ENSMUST00000163265]
[ENSMUST00000177495]
|
AlphaFold |
Q8BRH3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026150
|
SMART Domains |
Protein: ENSMUSP00000026150 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
|
361 |
371 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163265
|
SMART Domains |
Protein: ENSMUSP00000129586 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
|
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
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
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 |
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 |
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 |