Incidental Mutation 'IGL02554:Arhgap29'
ID |
298452 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap29
|
Ensembl Gene |
ENSMUSG00000039831 |
Gene Name |
Rho GTPase activating protein 29 |
Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02554
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 121786173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
AlphaFold |
Q8CGF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
|
SMART Domains |
Protein: ENSMUSP00000044624 Gene: ENSMUSG00000039831
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
PDB:3QWE|A
|
193 |
469 |
5e-41 |
PDB |
Blast:RhoGAP
|
412 |
595 |
9e-84 |
BLAST |
C1
|
613 |
659 |
2.48e-6 |
SMART |
RhoGAP
|
684 |
885 |
1.92e-68 |
SMART |
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196479
|
SMART Domains |
Protein: ENSMUSP00000142817 Gene: ENSMUSG00000039831
Domain | Start | End | E-Value | Type |
PDB:3QWE|A
|
129 |
271 |
1e-28 |
PDB |
Blast:FCH
|
133 |
220 |
1e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196904
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197155
|
SMART Domains |
Protein: ENSMUSP00000142945 Gene: ENSMUSG00000039831
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
PDB:3QWE|A
|
193 |
469 |
8e-42 |
PDB |
Blast:RhoGAP
|
412 |
595 |
2e-87 |
BLAST |
C1
|
613 |
659 |
2.48e-6 |
SMART |
RhoGAP
|
684 |
780 |
1.14e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198594
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199081
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
Het |
|
Other mutations in Arhgap29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Arhgap29
|
APN |
3 |
121,796,961 (GRCm39) |
nonsense |
probably null |
|
IGL01121:Arhgap29
|
APN |
3 |
121,803,512 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Arhgap29
|
APN |
3 |
121,767,773 (GRCm39) |
splice site |
probably benign |
|
IGL01623:Arhgap29
|
APN |
3 |
121,767,773 (GRCm39) |
splice site |
probably benign |
|
IGL01995:Arhgap29
|
APN |
3 |
121,807,977 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02120:Arhgap29
|
APN |
3 |
121,797,906 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02931:Arhgap29
|
APN |
3 |
121,786,509 (GRCm39) |
missense |
probably benign |
|
IGL02937:Arhgap29
|
APN |
3 |
121,767,698 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4362001:Arhgap29
|
UTSW |
3 |
121,796,861 (GRCm39) |
missense |
probably benign |
0.42 |
R0022:Arhgap29
|
UTSW |
3 |
121,782,586 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0574:Arhgap29
|
UTSW |
3 |
121,801,274 (GRCm39) |
missense |
probably benign |
0.01 |
R0601:Arhgap29
|
UTSW |
3 |
121,784,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Arhgap29
|
UTSW |
3 |
121,801,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R0881:Arhgap29
|
UTSW |
3 |
121,808,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R1232:Arhgap29
|
UTSW |
3 |
121,796,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Arhgap29
|
UTSW |
3 |
121,786,044 (GRCm39) |
missense |
probably benign |
0.27 |
R1296:Arhgap29
|
UTSW |
3 |
121,786,044 (GRCm39) |
missense |
probably benign |
0.27 |
R1403:Arhgap29
|
UTSW |
3 |
121,767,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Arhgap29
|
UTSW |
3 |
121,767,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Arhgap29
|
UTSW |
3 |
121,785,968 (GRCm39) |
unclassified |
probably benign |
|
R1710:Arhgap29
|
UTSW |
3 |
121,801,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1878:Arhgap29
|
UTSW |
3 |
121,805,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Arhgap29
|
UTSW |
3 |
121,775,509 (GRCm39) |
missense |
probably benign |
0.01 |
R2112:Arhgap29
|
UTSW |
3 |
121,805,210 (GRCm39) |
missense |
probably benign |
0.03 |
R2188:Arhgap29
|
UTSW |
3 |
121,784,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Arhgap29
|
UTSW |
3 |
121,805,102 (GRCm39) |
missense |
probably benign |
0.12 |
R2420:Arhgap29
|
UTSW |
3 |
121,767,629 (GRCm39) |
missense |
probably benign |
|
R3618:Arhgap29
|
UTSW |
3 |
121,782,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4673:Arhgap29
|
UTSW |
3 |
121,808,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Arhgap29
|
UTSW |
3 |
121,803,607 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5028:Arhgap29
|
UTSW |
3 |
121,803,709 (GRCm39) |
critical splice donor site |
probably null |
|
R5043:Arhgap29
|
UTSW |
3 |
121,767,653 (GRCm39) |
missense |
probably benign |
0.00 |
R5045:Arhgap29
|
UTSW |
3 |
121,796,244 (GRCm39) |
missense |
probably benign |
0.28 |
R5463:Arhgap29
|
UTSW |
3 |
121,782,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5495:Arhgap29
|
UTSW |
3 |
121,808,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5743:Arhgap29
|
UTSW |
3 |
121,775,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R5791:Arhgap29
|
UTSW |
3 |
121,807,894 (GRCm39) |
missense |
probably damaging |
0.98 |
R5896:Arhgap29
|
UTSW |
3 |
121,805,736 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6083:Arhgap29
|
UTSW |
3 |
121,786,397 (GRCm39) |
missense |
probably benign |
0.00 |
R6355:Arhgap29
|
UTSW |
3 |
121,804,907 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6451:Arhgap29
|
UTSW |
3 |
121,787,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6528:Arhgap29
|
UTSW |
3 |
121,808,351 (GRCm39) |
missense |
probably benign |
0.13 |
R7239:Arhgap29
|
UTSW |
3 |
121,782,599 (GRCm39) |
missense |
probably benign |
0.16 |
R7669:Arhgap29
|
UTSW |
3 |
121,786,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7807:Arhgap29
|
UTSW |
3 |
121,807,981 (GRCm39) |
missense |
probably benign |
0.01 |
R8045:Arhgap29
|
UTSW |
3 |
121,801,211 (GRCm39) |
synonymous |
silent |
|
R8048:Arhgap29
|
UTSW |
3 |
121,786,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Arhgap29
|
UTSW |
3 |
121,782,222 (GRCm39) |
missense |
probably damaging |
0.98 |
R9001:Arhgap29
|
UTSW |
3 |
121,775,523 (GRCm39) |
missense |
probably benign |
0.03 |
R9032:Arhgap29
|
UTSW |
3 |
121,808,249 (GRCm39) |
missense |
probably benign |
|
R9060:Arhgap29
|
UTSW |
3 |
121,783,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R9085:Arhgap29
|
UTSW |
3 |
121,808,249 (GRCm39) |
missense |
probably benign |
|
R9717:Arhgap29
|
UTSW |
3 |
121,797,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |