Incidental Mutation 'IGL02937:Arhgap29'
| ID |
364375 |
| 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 # |
IGL02937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121767698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 47
(E47K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000196984]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037958
AA Change: E47K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: E47K
| 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: ENSMUST00000196984
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197155
AA Change: E47K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: E47K
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,206,049 (GRCm39) |
C21Y |
probably damaging |
Het |
| 4933427D06Rik |
T |
C |
6: 89,085,127 (GRCm39) |
|
noncoding transcript |
Het |
| 5730480H06Rik |
A |
G |
5: 48,536,783 (GRCm39) |
I160V |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,927,216 (GRCm39) |
S303C |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,980,284 (GRCm39) |
N644S |
probably benign |
Het |
| Cc2d1b |
A |
G |
4: 108,489,091 (GRCm39) |
E796G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,033,180 (GRCm39) |
R788L |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,179,623 (GRCm39) |
F148S |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,487,619 (GRCm39) |
M292T |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,408 (GRCm39) |
R385G |
possibly damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,844,163 (GRCm39) |
L89P |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,231 (GRCm39) |
|
probably null |
Het |
| Dhtkd1 |
A |
G |
2: 5,922,716 (GRCm39) |
I481T |
possibly damaging |
Het |
| Dlx5 |
A |
T |
6: 6,881,755 (GRCm39) |
D44E |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,464,591 (GRCm39) |
I362N |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,671,952 (GRCm39) |
I151N |
probably damaging |
Het |
| Far1 |
T |
A |
7: 113,139,855 (GRCm39) |
I101N |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,172,207 (GRCm39) |
S384P |
probably benign |
Het |
| Gnb5 |
T |
C |
9: 75,247,471 (GRCm39) |
Y247H |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,736,572 (GRCm39) |
K1940E |
probably damaging |
Het |
| Gprc5b |
A |
G |
7: 118,583,017 (GRCm39) |
V284A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,040,500 (GRCm39) |
Q737* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,314,175 (GRCm39) |
D349G |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,243,318 (GRCm39) |
T467S |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,270,819 (GRCm39) |
S128T |
possibly damaging |
Het |
| Mroh5 |
A |
G |
15: 73,661,827 (GRCm39) |
C455R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,887,186 (GRCm39) |
H1771R |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,205,840 (GRCm39) |
Y65C |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,718,056 (GRCm39) |
M61L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,310,112 (GRCm39) |
V115D |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,798 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pabpc4l |
A |
C |
3: 46,400,725 (GRCm39) |
D306E |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,079,515 (GRCm39) |
Y332N |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,193,154 (GRCm39) |
K316M |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,945,519 (GRCm39) |
|
probably benign |
Het |
| Polq |
A |
G |
16: 36,833,471 (GRCm39) |
T55A |
probably benign |
Het |
| Ppp2r5b |
T |
A |
19: 6,281,016 (GRCm39) |
K271M |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,936 (GRCm39) |
|
probably null |
Het |
| Rigi |
C |
T |
4: 40,229,661 (GRCm39) |
C86Y |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,886,351 (GRCm39) |
N175D |
probably benign |
Het |
| Slc44a3 |
A |
G |
3: 121,303,970 (GRCm39) |
|
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,736,873 (GRCm39) |
H318Y |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,004,778 (GRCm39) |
T460A |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tll1 |
A |
C |
8: 64,658,319 (GRCm39) |
Y33* |
probably null |
Het |
| Tmem59 |
A |
T |
4: 107,054,782 (GRCm39) |
T196S |
probably damaging |
Het |
| Ttll4 |
C |
A |
1: 74,718,662 (GRCm39) |
A171D |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,513 (GRCm39) |
T13528A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,717,621 (GRCm39) |
|
probably benign |
Het |
| Xpc |
C |
A |
6: 91,477,119 (GRCm39) |
G327W |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,132 (GRCm39) |
S109G |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,285,794 (GRCm39) |
M2328V |
probably benign |
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 |
|
IGL02554:Arhgap29
|
APN |
3 |
121,786,173 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02931:Arhgap29
|
APN |
3 |
121,786,509 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation