Incidental Mutation 'R7807:Arhgap29'
| ID |
600844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
045862-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7807 (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 G
at 121807981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1053
(D1053G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: D1053G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: D1053G
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
C |
A |
9: 21,447,276 (GRCm39) |
T146K |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,599,958 (GRCm39) |
S1595T |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,831,635 (GRCm39) |
I56N |
probably damaging |
Het |
| Anln |
C |
A |
9: 22,272,176 (GRCm39) |
V648F |
probably damaging |
Het |
| Baalc |
T |
C |
15: 38,797,412 (GRCm39) |
S68P |
probably benign |
Het |
| Begain |
T |
C |
12: 109,004,856 (GRCm39) |
D52G |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,837,040 (GRCm39) |
I41V |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,812,114 (GRCm39) |
I365F |
possibly damaging |
Het |
| C2 |
G |
T |
17: 35,095,347 (GRCm39) |
S199R |
possibly damaging |
Het |
| Ccbe1 |
T |
A |
18: 66,199,828 (GRCm39) |
H298L |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,423,826 (GRCm39) |
K304I |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,678 (GRCm39) |
E432G |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,010,594 (GRCm39) |
M1K |
probably null |
Het |
| Cipc |
T |
C |
12: 87,008,899 (GRCm39) |
S253P |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,287,282 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
T |
5: 76,390,982 (GRCm39) |
N273K |
probably benign |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,126 (GRCm39) |
D476G |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,552,785 (GRCm39) |
K1092E |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,253,527 (GRCm39) |
I1811V |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,495,010 (GRCm39) |
T4091K |
probably damaging |
Het |
| Gm10340 |
T |
A |
14: 14,826,724 (GRCm39) |
N64K |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,792,171 (GRCm39) |
R2523C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,782,009 (GRCm39) |
H244R |
probably damaging |
Het |
| Hgs |
G |
T |
11: 120,370,760 (GRCm39) |
A567S |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,041,077 (GRCm39) |
V1036A |
probably benign |
Het |
| Keg1 |
G |
A |
19: 12,691,998 (GRCm39) |
|
probably null |
Het |
| Klhl8 |
A |
T |
5: 104,023,932 (GRCm39) |
L156Q |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,927,501 (GRCm39) |
Y521H |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,124 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,074,541 (GRCm39) |
I550F |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,971,753 (GRCm39) |
W28* |
probably null |
Het |
| Mfsd11 |
T |
G |
11: 116,754,733 (GRCm39) |
S215A |
probably benign |
Het |
| Mpped2 |
C |
A |
2: 106,575,085 (GRCm39) |
H57N |
possibly damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,751 (GRCm39) |
M542V |
probably benign |
Het |
| Myh6 |
G |
T |
14: 55,179,897 (GRCm39) |
H1903Q |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,897,777 (GRCm39) |
T60A |
probably benign |
Het |
| Npm2 |
T |
A |
14: 70,889,947 (GRCm39) |
|
probably null |
Het |
| Or5b123 |
C |
A |
19: 13,597,285 (GRCm39) |
T210K |
probably damaging |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,931,909 (GRCm39) |
S141G |
probably benign |
Het |
| Or7a39 |
T |
A |
10: 78,715,043 (GRCm39) |
S12R |
probably benign |
Het |
| Pax9 |
A |
T |
12: 56,743,850 (GRCm39) |
I166F |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,321,092 (GRCm39) |
S6P |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,309,101 (GRCm39) |
Y1893C |
probably damaging |
Het |
| Pirb |
T |
C |
7: 3,722,864 (GRCm39) |
T43A |
possibly damaging |
Het |
| Pou3f1 |
A |
G |
4: 124,552,074 (GRCm39) |
D192G |
possibly damaging |
Het |
| Pus3 |
C |
G |
9: 35,478,021 (GRCm39) |
R418G |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,385,970 (GRCm39) |
V363I |
probably benign |
Het |
| Sdcbp |
A |
G |
4: 6,393,688 (GRCm39) |
T269A |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,881,462 (GRCm39) |
V523A |
probably benign |
Het |
| Serpinb8 |
T |
A |
1: 107,532,457 (GRCm39) |
M183K |
probably damaging |
Het |
| Sh2d4a |
T |
G |
8: 68,735,033 (GRCm39) |
S51A |
probably benign |
Het |
| Siglec15 |
A |
G |
18: 78,090,696 (GRCm39) |
S201P |
probably damaging |
Het |
| Slc10a5 |
C |
T |
3: 10,400,529 (GRCm39) |
V44I |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,111,388 (GRCm39) |
V39A |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,117,164 (GRCm39) |
R184W |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,278 (GRCm39) |
D359E |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,371,371 (GRCm39) |
E641G |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,194,823 (GRCm39) |
D834G |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,793,885 (GRCm39) |
H82Q |
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,076,348 (GRCm39) |
I433T |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,057,444 (GRCm39) |
I418K |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,758,480 (GRCm39) |
N747S |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,302 (GRCm39) |
T711A |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,807,220 (GRCm39) |
I988T |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,495 (GRCm39) |
I1256N |
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,862,638 (GRCm39) |
D100G |
possibly damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,219 (GRCm39) |
I89T |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,521,910 (GRCm39) |
Y62F |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,060,855 (GRCm39) |
Q428* |
probably null |
Het |
| Zcrb1 |
T |
C |
15: 93,289,002 (GRCm39) |
D88G |
probably damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,667 (GRCm39) |
I907S |
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 |
|
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'- TGGAAGATGTCTGTAAAAGCCCC -3'
(R):5'- GATGGTCCCTGTTATTCCCAG -3'
Sequencing Primer
(F):5'- TAAGCTTGCCTGTAGACC -3'
(R):5'- CTTCTCAGGGTAGGCACTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation