Incidental Mutation 'IGL01724:Arhgap42'
| ID |
105227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap42
|
| Ensembl Gene |
ENSMUSG00000050730 |
| Gene Name |
Rho GTPase activating protein 42 |
| Synonyms |
9030420J04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
IGL01724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 8998254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093893
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
6 |
132 |
4.4e-36 |
PFAM |
|
Pfam:BAR_3
|
125 |
215 |
8.9e-29 |
PFAM |
|
PH
|
232 |
342 |
5.5e-8 |
SMART |
|
RhoGAP
|
358 |
535 |
1.4e-55 |
SMART |
|
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
616 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
617 |
691 |
2e-37 |
BLAST |
|
low complexity region
|
692 |
711 |
N/A |
INTRINSIC |
|
SH3
|
786 |
840 |
7.4e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,321 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,610,259 (GRCm39) |
V635A |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
| Adgrg3 |
T |
C |
8: 95,766,053 (GRCm39) |
F295L |
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,976 (GRCm39) |
Q79L |
probably damaging |
Het |
| Brd2 |
C |
A |
17: 34,335,975 (GRCm39) |
Q79H |
probably damaging |
Het |
| Capn15 |
A |
G |
17: 26,181,037 (GRCm39) |
S705P |
probably damaging |
Het |
| Cebpz |
T |
A |
17: 79,243,342 (GRCm39) |
D104V |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,626,534 (GRCm39) |
I94T |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,220,614 (GRCm39) |
A52V |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,870,309 (GRCm39) |
L459P |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,081,077 (GRCm39) |
T2873I |
probably benign |
Het |
| Emg1 |
A |
G |
6: 124,688,984 (GRCm39) |
F8S |
possibly damaging |
Het |
| Fermt3 |
A |
G |
19: 6,979,143 (GRCm39) |
I553T |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,947 (GRCm39) |
D419G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,008,912 (GRCm39) |
|
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,381,037 (GRCm39) |
V122E |
possibly damaging |
Het |
| Lig3 |
C |
A |
11: 82,681,448 (GRCm39) |
T480K |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,769,381 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
T |
6: 88,863,044 (GRCm39) |
H683N |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,390,331 (GRCm39) |
A427S |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,248,923 (GRCm39) |
F23L |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,816,225 (GRCm39) |
T104M |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pdx1 |
A |
T |
5: 147,211,217 (GRCm39) |
E146V |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,750,604 (GRCm39) |
T485A |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,516 (GRCm39) |
Y134H |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,185,219 (GRCm39) |
M110L |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,103 (GRCm39) |
C232R |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,052,652 (GRCm39) |
V382A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,345,523 (GRCm39) |
M1K |
probably null |
Het |
| Virma |
A |
G |
4: 11,528,672 (GRCm39) |
E1303G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,411 (GRCm39) |
V3724A |
probably benign |
Het |
|
| Other mutations in Arhgap42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Arhgap42
|
APN |
9 |
9,006,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Arhgap42
|
APN |
9 |
8,997,621 (GRCm39) |
nonsense |
probably null |
|
|
IGL01693:Arhgap42
|
APN |
9 |
9,006,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Arhgap42
|
APN |
9 |
9,155,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Arhgap42
|
APN |
9 |
9,035,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02932:Arhgap42
|
APN |
9 |
9,115,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02992:Arhgap42
|
APN |
9 |
8,998,249 (GRCm39) |
splice site |
probably benign |
|
|
IGL03149:Arhgap42
|
APN |
9 |
9,008,085 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0096:Arhgap42
|
UTSW |
9 |
9,009,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Arhgap42
|
UTSW |
9 |
9,009,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Arhgap42
|
UTSW |
9 |
9,180,034 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0513:Arhgap42
|
UTSW |
9 |
9,005,766 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1212:Arhgap42
|
UTSW |
9 |
9,015,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Arhgap42
|
UTSW |
9 |
9,030,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1499:Arhgap42
|
UTSW |
9 |
9,033,587 (GRCm39) |
splice site |
probably benign |
|
|
R1674:Arhgap42
|
UTSW |
9 |
9,006,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1687:Arhgap42
|
UTSW |
9 |
9,035,538 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1808:Arhgap42
|
UTSW |
9 |
9,180,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1983:Arhgap42
|
UTSW |
9 |
9,017,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Arhgap42
|
UTSW |
9 |
9,035,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Arhgap42
|
UTSW |
9 |
9,035,512 (GRCm39) |
missense |
probably benign |
|
|
R2279:Arhgap42
|
UTSW |
9 |
9,035,512 (GRCm39) |
missense |
probably benign |
|
|
R2295:Arhgap42
|
UTSW |
9 |
9,115,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3807:Arhgap42
|
UTSW |
9 |
9,008,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Arhgap42
|
UTSW |
9 |
9,011,300 (GRCm39) |
intron |
probably benign |
|
|
R4304:Arhgap42
|
UTSW |
9 |
9,006,489 (GRCm39) |
missense |
probably benign |
|
|
R4530:Arhgap42
|
UTSW |
9 |
9,011,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Arhgap42
|
UTSW |
9 |
9,011,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Arhgap42
|
UTSW |
9 |
9,238,703 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Arhgap42
|
UTSW |
9 |
9,046,629 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4809:Arhgap42
|
UTSW |
9 |
9,180,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4999:Arhgap42
|
UTSW |
9 |
9,009,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Arhgap42
|
UTSW |
9 |
8,997,656 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5737:Arhgap42
|
UTSW |
9 |
9,059,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5840:Arhgap42
|
UTSW |
9 |
9,046,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6172:Arhgap42
|
UTSW |
9 |
9,148,246 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6456:Arhgap42
|
UTSW |
9 |
9,005,823 (GRCm39) |
missense |
probably benign |
|
|
R6782:Arhgap42
|
UTSW |
9 |
9,115,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6846:Arhgap42
|
UTSW |
9 |
9,006,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Arhgap42
|
UTSW |
9 |
9,006,359 (GRCm39) |
missense |
probably benign |
|
|
R7560:Arhgap42
|
UTSW |
9 |
9,035,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8025:Arhgap42
|
UTSW |
9 |
9,005,823 (GRCm39) |
missense |
probably benign |
|
|
R8113:Arhgap42
|
UTSW |
9 |
9,011,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Arhgap42
|
UTSW |
9 |
9,009,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Arhgap42
|
UTSW |
9 |
9,016,221 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8457:Arhgap42
|
UTSW |
9 |
9,016,221 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9131:Arhgap42
|
UTSW |
9 |
9,011,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Arhgap42
|
UTSW |
9 |
9,011,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Arhgap42
|
UTSW |
9 |
9,006,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9570:Arhgap42
|
UTSW |
9 |
9,148,209 (GRCm39) |
missense |
|
|
|
R9780:Arhgap42
|
UTSW |
9 |
9,059,102 (GRCm39) |
missense |
probably benign |
0.36 |
|
X0066:Arhgap42
|
UTSW |
9 |
9,115,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Arhgap42
|
UTSW |
9 |
9,115,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation