Incidental Mutation 'IGL02378:Arhgap42'
ID |
291216 |
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 # |
IGL02378
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 9035584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 253
(H253Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
AlphaFold |
B2RQE8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093893
AA Change: H253Y
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091419 Gene: ENSMUSG00000050730 AA Change: H253Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182617
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
Gabra1 |
C |
A |
11: 42,031,082 (GRCm39) |
V283F |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,544,905 (GRCm39) |
I179T |
possibly damaging |
Het |
Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,118,006 (GRCm39) |
M583K |
possibly damaging |
Het |
Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
Slc24a3 |
C |
T |
2: 145,360,322 (GRCm39) |
R141C |
possibly damaging |
Het |
Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,645,266 (GRCm39) |
M450I |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
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 |
IGL01724:Arhgap42
|
APN |
9 |
8,998,254 (GRCm39) |
splice site |
probably benign |
|
IGL02142:Arhgap42
|
APN |
9 |
9,155,360 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |