Incidental Mutation 'IGL00900:Agap3'
| ID |
27380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agap3
|
| Ensembl Gene |
ENSMUSG00000023353 |
| Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
| Synonyms |
Centg3, MRIP-1, Crag |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
IGL00900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 24681366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000199856]
[ENSMUST00000212381]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024123
|
| SMART Domains |
Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
| 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 |
probably benign
Transcript: ENSMUST00000197513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199647
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212381
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
| Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
| Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
| Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
| Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
| Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
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 |
|
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 |
|
|
R6802:Agap3
|
UTSW |
5 |
24,692,791 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation