Incidental Mutation 'IGL02431:Agap3'
| ID |
293145 |
| 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: 0.163)
|
| Stock # |
IGL02431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24706010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 758
(E758G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000088311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024123
AA Change: E758G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: E758G
| 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: ENSMUST00000088311
|
| SMART Domains |
Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
314 |
N/A |
INTRINSIC |
|
HOX
|
316 |
378 |
3.54e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197513
AA Change: E292G
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,659,424 (GRCm38) |
N57S |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
| Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
| Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
| Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
| Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,841,750 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
| Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
| Ptpn22 |
C |
A |
3: 103,810,713 (GRCm39) |
F713L |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
| Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
| Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
| Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
| Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
| Vegfb |
C |
A |
19: 6,963,386 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,617 (GRCm39) |
V72D |
probably damaging |
Het |
| Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation