Incidental Mutation 'IGL03247:Agap3'
| ID |
414435 |
| 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 # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24657175-24707045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24692820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 418
(N418D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024123]
[ENSMUST00000199856]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024123
AA Change: N418D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: N418D
| 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 |
unknown
Transcript: ENSMUST00000197513
AA Change: N55D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199250
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
| Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
| Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
| Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
| Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
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 |
|
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 |
2016-08-02 |
Incidental Mutation