Incidental Mutation 'IGL03149:Arhgap42'
| ID |
411032 |
| 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 # |
IGL03149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8994330-9239106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9008085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 546
(I546T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093893]
|
| AlphaFold |
B2RQE8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093893
AA Change: I546T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: I546T
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
| Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
| Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
| Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
| Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
| Eci2 |
T |
C |
13: 35,172,296 (GRCm39) |
T146A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
| Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Garem1 |
G |
T |
18: 21,264,523 (GRCm39) |
P534T |
probably damaging |
Het |
| Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
| Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
| Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
| Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
| Pacsin3 |
T |
A |
2: 91,091,852 (GRCm39) |
|
probably benign |
Het |
| Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
| Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,237,356 (GRCm39) |
Y45F |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
| Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
| Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
| Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
| Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
| Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,526,740 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation