Incidental Mutation 'R6802:Agap3'
ID |
533376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agap3
|
Ensembl Gene |
ENSMUSG00000023353 |
Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
Synonyms |
Centg3, MRIP-1, Crag |
MMRRC Submission |
044915-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R6802 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24692791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 408
(I408N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000199856]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024123
AA Change: I408N
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000024123 Gene: ENSMUSG00000023353 AA Change: I408N
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
59 |
N/A |
INTRINSIC |
Pfam:Ras
|
128 |
286 |
1.2e-18 |
PFAM |
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
PH
|
403 |
642 |
2.76e-16 |
SMART |
ArfGap
|
661 |
781 |
9.17e-51 |
SMART |
ANK
|
820 |
849 |
2.43e1 |
SMART |
ANK
|
853 |
885 |
9.17e1 |
SMART |
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199856
|
SMART Domains |
Protein: ENSMUSP00000142529 Gene: ENSMUSG00000023353
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
50 |
N/A |
INTRINSIC |
low complexity region
|
66 |
108 |
N/A |
INTRINSIC |
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
small_GTPase
|
307 |
473 |
3.2e-11 |
SMART |
low complexity region
|
511 |
528 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
probably benign |
Het |
|
Other mutations in Agap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Agap3
|
APN |
5 |
24,703,107 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00900:Agap3
|
APN |
5 |
24,681,366 (GRCm39) |
splice site |
probably benign |
|
IGL00966:Agap3
|
APN |
5 |
24,706,000 (GRCm39) |
splice site |
probably benign |
|
IGL02207:Agap3
|
APN |
5 |
24,704,934 (GRCm39) |
missense |
probably benign |
|
IGL02431:Agap3
|
APN |
5 |
24,706,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02601:Agap3
|
APN |
5 |
24,688,369 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03090:Agap3
|
APN |
5 |
24,706,204 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03131:Agap3
|
APN |
5 |
24,682,130 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03247:Agap3
|
APN |
5 |
24,692,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Agap3
|
UTSW |
5 |
24,684,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R0344:Agap3
|
UTSW |
5 |
24,656,200 (GRCm39) |
unclassified |
probably benign |
|
R0496:Agap3
|
UTSW |
5 |
24,706,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Agap3
|
UTSW |
5 |
24,705,184 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1427:Agap3
|
UTSW |
5 |
24,681,691 (GRCm39) |
missense |
probably benign |
0.03 |
R1840:Agap3
|
UTSW |
5 |
24,705,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Agap3
|
UTSW |
5 |
24,698,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Agap3
|
UTSW |
5 |
24,692,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R4601:Agap3
|
UTSW |
5 |
24,681,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R4745:Agap3
|
UTSW |
5 |
24,656,123 (GRCm39) |
splice site |
probably null |
|
R4807:Agap3
|
UTSW |
5 |
24,682,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R4808:Agap3
|
UTSW |
5 |
24,706,243 (GRCm39) |
missense |
probably benign |
|
R4916:Agap3
|
UTSW |
5 |
24,683,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R5056:Agap3
|
UTSW |
5 |
24,682,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R5094:Agap3
|
UTSW |
5 |
24,656,319 (GRCm39) |
unclassified |
probably benign |
|
R5646:Agap3
|
UTSW |
5 |
24,688,395 (GRCm39) |
missense |
probably benign |
0.01 |
R5937:Agap3
|
UTSW |
5 |
24,682,815 (GRCm39) |
missense |
probably damaging |
0.99 |
R6365:Agap3
|
UTSW |
5 |
24,679,983 (GRCm39) |
missense |
probably benign |
0.43 |
R6798:Agap3
|
UTSW |
5 |
24,703,280 (GRCm39) |
splice site |
probably null |
|
R6863:Agap3
|
UTSW |
5 |
24,657,462 (GRCm39) |
nonsense |
probably null |
|
R6863:Agap3
|
UTSW |
5 |
24,657,461 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7039:Agap3
|
UTSW |
5 |
24,688,399 (GRCm39) |
missense |
probably benign |
0.01 |
R7111:Agap3
|
UTSW |
5 |
24,706,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Agap3
|
UTSW |
5 |
24,657,382 (GRCm39) |
missense |
probably benign |
0.25 |
R7791:Agap3
|
UTSW |
5 |
24,681,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R8124:Agap3
|
UTSW |
5 |
24,683,128 (GRCm39) |
missense |
probably benign |
0.02 |
R8293:Agap3
|
UTSW |
5 |
24,692,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Agap3
|
UTSW |
5 |
24,679,629 (GRCm39) |
missense |
probably benign |
|
R9127:Agap3
|
UTSW |
5 |
24,681,439 (GRCm39) |
splice site |
probably benign |
|
R9694:Agap3
|
UTSW |
5 |
24,682,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGACCTGGTCACATCATG -3'
(R):5'- GCAAACATCAGTTCATATGCCC -3'
Sequencing Primer
(F):5'- ACATCATGACTTTCCTGTGCTGG -3'
(R):5'- TGGTGCATTTTCAAAAGAAACCCC -3'
|
Posted On |
2018-09-12 |