Incidental Mutation 'IGL00574:Agap3'
ID |
8643 |
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 # |
IGL00574
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24703107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 568
(L568Q)
|
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: L568Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000024123 Gene: ENSMUSG00000023353 AA Change: L568Q
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 |
probably benign
Transcript: ENSMUST00000197513
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
Other mutations in Agap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-12-06 |