Incidental Mutation 'IGL02601:Agap3'
ID |
300095 |
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 # |
IGL02601
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24688369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 23
(K23E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000199856]
[ENSMUST00000212381]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024123
AA Change: K386E
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000024123 Gene: ENSMUSG00000023353 AA Change: K386E
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 |
possibly damaging
Transcript: ENSMUST00000197513
AA Change: K23E
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
T |
5: 139,293,541 (GRCm39) |
V57M |
probably damaging |
Het |
Anln |
A |
T |
9: 22,249,331 (GRCm39) |
I132K |
probably damaging |
Het |
Anxa4 |
T |
C |
6: 86,737,683 (GRCm39) |
T13A |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,235,022 (GRCm39) |
Y191N |
possibly damaging |
Het |
Carm1 |
G |
A |
9: 21,498,204 (GRCm39) |
V403M |
probably damaging |
Het |
Cbx7 |
A |
G |
15: 79,807,671 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,451,757 (GRCm39) |
N16K |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,242,315 (GRCm39) |
D499E |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,249,432 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,060,631 (GRCm39) |
D1421G |
probably damaging |
Het |
Fgb |
T |
A |
3: 82,952,367 (GRCm39) |
E167D |
probably benign |
Het |
Gimap6 |
T |
A |
6: 48,679,409 (GRCm39) |
Q209L |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,990 (GRCm39) |
H123Y |
possibly damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,749 (GRCm39) |
|
noncoding transcript |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Obox3 |
T |
C |
7: 15,360,848 (GRCm39) |
E97G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,466,264 (GRCm39) |
H1488R |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,700,802 (GRCm39) |
Y221* |
probably null |
Het |
Or6c75 |
A |
G |
10: 129,337,723 (GRCm39) |
*323W |
probably null |
Het |
Pak5 |
T |
A |
2: 135,958,855 (GRCm39) |
K78* |
probably null |
Het |
Paqr9 |
A |
G |
9: 95,442,877 (GRCm39) |
N289S |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,122,577 (GRCm39) |
R715H |
probably damaging |
Het |
Pglyrp2 |
T |
C |
17: 32,634,835 (GRCm39) |
H509R |
probably benign |
Het |
Pik3ap1 |
A |
C |
19: 41,290,881 (GRCm39) |
N550K |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,221,671 (GRCm39) |
Y320H |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,608,227 (GRCm39) |
T690S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,000,686 (GRCm39) |
D925E |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,018 (GRCm39) |
D708G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rbmy1b |
A |
G |
Y: 3,774,885 (GRCm39) |
I27M |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,092,354 (GRCm39) |
H315Y |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sis |
T |
C |
3: 72,820,543 (GRCm39) |
N1407S |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,555 (GRCm39) |
L261Q |
probably damaging |
Het |
Sox30 |
T |
G |
11: 45,875,589 (GRCm39) |
L447R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssu72 |
A |
G |
4: 155,789,882 (GRCm39) |
N15S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,137,574 (GRCm39) |
S455F |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,928,462 (GRCm39) |
L97Q |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,856,869 (GRCm39) |
N40I |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,794 (GRCm39) |
V877I |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,204 (GRCm39) |
H123L |
probably damaging |
Het |
Teddm1b |
A |
G |
1: 153,750,362 (GRCm39) |
Y57C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,070,935 (GRCm39) |
C2121* |
probably null |
Het |
Tnfsf11 |
T |
A |
14: 78,537,385 (GRCm39) |
R93* |
probably null |
Het |
Tspan12 |
A |
C |
6: 21,835,378 (GRCm39) |
|
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
Vps4a |
T |
C |
8: 107,769,693 (GRCm39) |
I334T |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,583,462 (GRCm39) |
S1110P |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,491,136 (GRCm39) |
S716P |
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 |
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 |
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 |