Incidental Mutation 'R4673:Arhgap29'
| ID |
348599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
041928-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121808620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1266
(V1266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037958
AA Change: V1266E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: V1266E
| 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 |
unknown
Transcript: ENSMUST00000198914
AA Change: V858E
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,374,471 (GRCm39) |
E507G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,768 (GRCm39) |
T53I |
probably benign |
Het |
| Adam4 |
A |
T |
12: 81,468,535 (GRCm39) |
S29T |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Alas1 |
G |
T |
9: 106,113,676 (GRCm39) |
P523Q |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,320 (GRCm39) |
D69G |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,719 (GRCm39) |
D160G |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,772 (GRCm39) |
F569I |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,521,956 (GRCm39) |
L1718S |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,629,975 (GRCm39) |
Y457C |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,192 (GRCm39) |
V97A |
probably benign |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Fhip1a |
A |
T |
3: 85,638,020 (GRCm39) |
V93D |
probably damaging |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gm11565 |
A |
G |
11: 99,806,040 (GRCm39) |
D144G |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,511,981 (GRCm39) |
Y19C |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,208,837 (GRCm39) |
T148S |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,462,236 (GRCm39) |
I282T |
probably benign |
Het |
| Hspa2 |
T |
A |
12: 76,452,514 (GRCm39) |
S403T |
possibly damaging |
Het |
| Il27 |
G |
A |
7: 126,190,251 (GRCm39) |
T121I |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,196,284 (GRCm39) |
|
probably benign |
Het |
| Kynu |
A |
G |
2: 43,569,815 (GRCm39) |
T366A |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,841,059 (GRCm39) |
T507I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,087,105 (GRCm39) |
V124M |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,273,754 (GRCm39) |
H1331L |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,137,227 (GRCm39) |
F483L |
probably benign |
Het |
| Nbeal1 |
A |
C |
1: 60,368,549 (GRCm39) |
K2631N |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Ogg1 |
T |
C |
6: 113,304,268 (GRCm39) |
C28R |
probably damaging |
Het |
| Or13c7c |
T |
C |
4: 43,836,430 (GRCm39) |
H20R |
probably benign |
Het |
| Or5b24 |
G |
A |
19: 12,912,461 (GRCm39) |
A120T |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,053 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or6e1 |
C |
T |
14: 54,519,789 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,992,056 (GRCm39) |
H744R |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,370,787 (GRCm39) |
N263S |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,774,191 (GRCm39) |
T158A |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,737,840 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,100,079 (GRCm39) |
Y212F |
probably benign |
Het |
| Rnd3 |
G |
A |
2: 51,022,553 (GRCm39) |
A163V |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,389,148 (GRCm39) |
V315E |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,701,266 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,248,260 (GRCm39) |
D1194E |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,809,807 (GRCm39) |
T198A |
probably damaging |
Het |
| Shisa2 |
A |
G |
14: 59,867,629 (GRCm39) |
T294A |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,018,628 (GRCm39) |
|
probably null |
Het |
| Strbp |
A |
T |
2: 37,535,691 (GRCm39) |
S6T |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,661,804 (GRCm39) |
E56G |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,642,588 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,580 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,891,514 (GRCm39) |
E619G |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Tspan3 |
G |
A |
9: 56,043,980 (GRCm39) |
R240W |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,944,659 (GRCm39) |
T658K |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,021,876 (GRCm39) |
V236A |
probably damaging |
Het |
| Usp34 |
TCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCAC |
11: 23,314,480 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
T |
C |
7: 29,544,863 (GRCm39) |
D348G |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,927,658 (GRCm39) |
A365V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGCTGTACCTCCTGTCCTG -3'
(R):5'- TTCCAGTGAGGCTAAACGG -3'
Sequencing Primer
(F):5'- ATGCTCCCCAGATCCATGTGAC -3'
(R):5'- CTAAACGGAGCCTTGTCAGGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation