Incidental Mutation 'R9060:Arhgap29'
| ID |
688913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
068886-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121783973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 176
(S176T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037958
AA Change: S176T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: S176T
| 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 damaging
Transcript: ENSMUST00000196479
AA Change: S112T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831
AA Change: S112T
| 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 damaging
Transcript: ENSMUST00000197155
AA Change: S176T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: S176T
| 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 |
probably benign
Transcript: ENSMUST00000198914
|
| Meta Mutation Damage Score |
0.0774 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
C |
17: 13,145,293 (GRCm39) |
V295G |
|
Het |
| Agfg1 |
T |
C |
1: 82,872,254 (GRCm39) |
V529A |
possibly damaging |
Het |
| Ap1g2 |
G |
A |
14: 55,337,887 (GRCm39) |
P667L |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,052,619 (GRCm39) |
D377G |
unknown |
Het |
| Ccdc14 |
T |
C |
16: 34,517,486 (GRCm39) |
L104P |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,281 (GRCm39) |
I511T |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,687,165 (GRCm39) |
Y46H |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,302 (GRCm39) |
V799A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,557,711 (GRCm39) |
V175A |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,905,141 (GRCm39) |
C4058F |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,750 (GRCm39) |
D175E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,543,790 (GRCm39) |
Y334N |
probably damaging |
Het |
| Enah |
C |
A |
1: 181,749,817 (GRCm39) |
A341S |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,364 (GRCm39) |
*396Q |
probably null |
Het |
| Epb41l1 |
T |
A |
2: 156,345,679 (GRCm39) |
Y227* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,218,977 (GRCm39) |
D765E |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,782 (GRCm39) |
N1740S |
possibly damaging |
Het |
| Fhip2a |
C |
T |
19: 57,361,450 (GRCm39) |
H125Y |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,737,710 (GRCm39) |
R222H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,269,480 (GRCm39) |
D1105G |
probably damaging |
Het |
| Hoxa13 |
T |
A |
6: 52,236,897 (GRCm39) |
Y121F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Jag1 |
T |
G |
2: 136,931,204 (GRCm39) |
T643P |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,309,514 (GRCm39) |
S404R |
probably benign |
Het |
| Micall2 |
A |
T |
5: 139,705,035 (GRCm39) |
S100T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,271,735 (GRCm39) |
L419Q |
probably damaging |
Het |
| Ms4a13 |
A |
C |
19: 11,168,950 (GRCm39) |
I25S |
|
Het |
| Nnmt |
T |
C |
9: 48,503,367 (GRCm39) |
T220A |
probably benign |
Het |
| Nrg3 |
G |
A |
14: 38,734,052 (GRCm39) |
T278I |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,783,895 (GRCm39) |
W1146R |
probably damaging |
Het |
| Or13a28 |
T |
G |
7: 140,217,695 (GRCm39) |
L27R |
|
Het |
| Or5m10 |
T |
C |
2: 85,717,920 (GRCm39) |
Y259H |
probably benign |
Het |
| Pacsin3 |
T |
C |
2: 91,091,557 (GRCm39) |
F85L |
probably benign |
Het |
| Padi4 |
T |
A |
4: 140,477,953 (GRCm39) |
D465V |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,412 (GRCm39) |
E247G |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,726,599 (GRCm39) |
Y1819F |
unknown |
Het |
| Pitpnm1 |
C |
A |
19: 4,156,869 (GRCm39) |
T464N |
probably damaging |
Het |
| Rnf214 |
T |
C |
9: 45,809,772 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,616,677 (GRCm39) |
G310D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,581,688 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,227,699 (GRCm39) |
I142V |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,260,852 (GRCm39) |
R626C |
probably benign |
Het |
| Spart |
T |
C |
3: 55,032,275 (GRCm39) |
S370P |
probably benign |
Het |
| Spata31e1 |
G |
A |
13: 49,940,087 (GRCm39) |
S541F |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,420,571 (GRCm39) |
L189I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,282,821 (GRCm39) |
M67K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,489 (GRCm39) |
Y1534* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,965,812 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,134,585 (GRCm39) |
M1T |
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,969,047 (GRCm39) |
T438I |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,803 (GRCm39) |
V297A |
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 |
|
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 |
|
|
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'- GTAACTGCTTCCTTAACTTCTGAAC -3'
(R):5'- TCACATCATCTACTCAAGCAAGTTG -3'
Sequencing Primer
(F):5'- ACTTCTGAACCTTTTTAGATTTGTGG -3'
(R):5'- CAAAGTACAAAGAGATTAAGTGTATC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation