Incidental Mutation 'R9001:Arhgap29'
| ID |
684957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
068832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121775523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 89
(I89L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: I89L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: I89L
| 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
AA Change: I25L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831
AA Change: I25L
| 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
AA Change: I25L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197155
AA Change: I89L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: I89L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,176 (GRCm39) |
R26G |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,462 (GRCm39) |
N439S |
probably damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,522,476 (GRCm39) |
E517K |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,122,296 (GRCm39) |
V149I |
possibly damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,534 (GRCm39) |
H362L |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,376 (GRCm39) |
V71A |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,944,370 (GRCm39) |
I1035F |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,079 (GRCm39) |
V1279A |
|
Het |
| Csmd3 |
A |
T |
15: 47,596,901 (GRCm39) |
V1068E |
|
Het |
| Ddx50 |
T |
C |
10: 62,475,728 (GRCm39) |
Y331C |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,623 (GRCm39) |
Y631H |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,515 (GRCm39) |
G1915S |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,436,374 (GRCm39) |
*2463W |
probably null |
Het |
| Dst |
G |
T |
1: 34,213,292 (GRCm39) |
V1395F |
possibly damaging |
Het |
| Dzip1l |
T |
C |
9: 99,523,907 (GRCm39) |
|
probably null |
Het |
| Eef1akmt3 |
T |
C |
10: 126,877,232 (GRCm39) |
E11G |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,438 (GRCm39) |
F370L |
probably benign |
Het |
| Enam |
T |
A |
5: 88,637,388 (GRCm39) |
F104Y |
probably benign |
Het |
| Esd |
A |
G |
14: 74,983,123 (GRCm39) |
E258G |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,730,356 (GRCm39) |
A377T |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,282,008 (GRCm39) |
I454M |
probably benign |
Het |
| Ggt5 |
T |
A |
10: 75,445,992 (GRCm39) |
V462D |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,178 (GRCm39) |
S67G |
unknown |
Het |
| Grn |
A |
T |
11: 102,327,497 (GRCm39) |
Y286F |
|
Het |
| Gulp1 |
A |
G |
1: 44,827,709 (GRCm39) |
I284V |
probably benign |
Het |
| Ilf2 |
A |
G |
3: 90,390,108 (GRCm39) |
N140S |
probably benign |
Het |
| Ints4 |
C |
A |
7: 97,190,276 (GRCm39) |
P925Q |
possibly damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,560 (GRCm39) |
N88D |
possibly damaging |
Het |
| Kif15 |
T |
G |
9: 122,826,855 (GRCm39) |
C798G |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,910,409 (GRCm39) |
V285E |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,641,860 (GRCm39) |
S59G |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,299,999 (GRCm39) |
M333T |
probably benign |
Het |
| Mrm3 |
A |
G |
11: 76,141,234 (GRCm39) |
D414G |
probably benign |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mtpap |
A |
G |
18: 4,380,831 (GRCm39) |
N170D |
probably benign |
Het |
| Nelfb |
C |
A |
2: 25,096,287 (GRCm39) |
R274L |
probably damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,447 (GRCm39) |
V261G |
probably damaging |
Het |
| Pkm |
A |
G |
9: 59,572,626 (GRCm39) |
N44S |
probably benign |
Het |
| Rel |
T |
C |
11: 23,698,855 (GRCm39) |
D144G |
probably damaging |
Het |
| Scgb2b21 |
A |
T |
7: 33,218,956 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
A |
13: 33,277,743 (GRCm39) |
D325E |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,748,956 (GRCm39) |
C654R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,798 (GRCm39) |
K143R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,529 (GRCm39) |
H2034Y |
unknown |
Het |
| Thbs2 |
T |
C |
17: 14,889,007 (GRCm39) |
D1164G |
probably damaging |
Het |
| Tnfrsf10b |
T |
C |
14: 70,015,250 (GRCm39) |
S243P |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,410 (GRCm39) |
S2408T |
probably benign |
Het |
| Topors |
A |
T |
4: 40,261,696 (GRCm39) |
D529E |
possibly damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,643 (GRCm39) |
M138V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,104 (GRCm39) |
I242M |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,408,915 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,856 (GRCm39) |
N344K |
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 |
|
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 |
|
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 |
|
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'- TGGAACCAGTGCTTTCTACTC -3'
(R):5'- CCCAAGCTGTCAAACTTCGG -3'
Sequencing Primer
(F):5'- CTACTCTAAGTAGCTTTGTGATGTC -3'
(R):5'- TGTCCTCCATCATAGCTGGGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation