Incidental Mutation 'K3955:Agap1'
ID |
67217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agap1
|
Ensembl Gene |
ENSMUSG00000055013 |
Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
Synonyms |
Ggap1, Centg2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
K3955 (G3)
of strain
706
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89815326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 738
(R738H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
|
AlphaFold |
Q8BXK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027521
AA Change: R738H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027521 Gene: ENSMUSG00000055013 AA Change: R738H
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
73 |
231 |
1.1e-18 |
PFAM |
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
PH
|
347 |
590 |
1.36e-15 |
SMART |
ArfGap
|
609 |
729 |
4.58e-51 |
SMART |
ANK
|
768 |
797 |
1.83e-3 |
SMART |
ANK
|
801 |
832 |
1.33e2 |
SMART |
low complexity region
|
840 |
852 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074945
AA Change: R551H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000074478 Gene: ENSMUSG00000055013 AA Change: R551H
Domain | Start | End | E-Value | Type |
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
PH
|
347 |
537 |
7.93e-17 |
SMART |
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
ANK
|
715 |
744 |
1.83e-3 |
SMART |
ANK
|
748 |
779 |
1.33e2 |
SMART |
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190096
AA Change: R685H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000140599 Gene: ENSMUSG00000055013 AA Change: R685H
Domain | Start | End | E-Value | Type |
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
PH
|
347 |
537 |
7.93e-17 |
SMART |
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
ANK
|
715 |
744 |
1.83e-3 |
SMART |
ANK
|
748 |
779 |
1.33e2 |
SMART |
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
Het |
|
Other mutations in Agap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Agap1
|
APN |
1 |
89,591,518 (GRCm39) |
splice site |
probably benign |
|
IGL00310:Agap1
|
APN |
1 |
89,815,392 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01104:Agap1
|
APN |
1 |
89,653,797 (GRCm39) |
splice site |
probably benign |
|
IGL02227:Agap1
|
APN |
1 |
89,591,497 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02959:Agap1
|
APN |
1 |
89,770,913 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03303:Agap1
|
APN |
1 |
89,592,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R0030:Agap1
|
UTSW |
1 |
89,816,466 (GRCm39) |
nonsense |
probably null |
|
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0400:Agap1
|
UTSW |
1 |
89,770,972 (GRCm39) |
splice site |
probably benign |
|
R1104:Agap1
|
UTSW |
1 |
89,716,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R1160:Agap1
|
UTSW |
1 |
89,770,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R1439:Agap1
|
UTSW |
1 |
89,770,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
R1644:Agap1
|
UTSW |
1 |
89,591,452 (GRCm39) |
missense |
probably damaging |
0.97 |
R1984:Agap1
|
UTSW |
1 |
89,694,045 (GRCm39) |
missense |
probably benign |
|
R2141:Agap1
|
UTSW |
1 |
89,765,477 (GRCm39) |
missense |
probably damaging |
0.99 |
R3966:Agap1
|
UTSW |
1 |
89,762,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R4195:Agap1
|
UTSW |
1 |
89,762,261 (GRCm39) |
missense |
probably damaging |
0.99 |
R4669:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
R4951:Agap1
|
UTSW |
1 |
89,537,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R5525:Agap1
|
UTSW |
1 |
89,671,495 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5843:Agap1
|
UTSW |
1 |
89,537,272 (GRCm39) |
missense |
probably damaging |
0.97 |
R5930:Agap1
|
UTSW |
1 |
89,770,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Agap1
|
UTSW |
1 |
89,694,177 (GRCm39) |
missense |
probably benign |
0.25 |
R7027:Agap1
|
UTSW |
1 |
89,816,444 (GRCm39) |
missense |
probably benign |
0.00 |
R7207:Agap1
|
UTSW |
1 |
89,770,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7268:Agap1
|
UTSW |
1 |
89,694,070 (GRCm39) |
missense |
probably benign |
0.02 |
R7289:Agap1
|
UTSW |
1 |
89,383,153 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R7689:Agap1
|
UTSW |
1 |
89,762,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Agap1
|
UTSW |
1 |
89,770,793 (GRCm39) |
missense |
probably benign |
0.43 |
R7801:Agap1
|
UTSW |
1 |
89,558,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Agap1
|
UTSW |
1 |
89,558,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R8364:Agap1
|
UTSW |
1 |
89,815,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8491:Agap1
|
UTSW |
1 |
89,537,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Agap1
|
UTSW |
1 |
89,694,188 (GRCm39) |
critical splice donor site |
probably null |
|
R9040:Agap1
|
UTSW |
1 |
89,671,466 (GRCm39) |
missense |
probably damaging |
0.98 |
R9254:Agap1
|
UTSW |
1 |
89,653,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R9477:Agap1
|
UTSW |
1 |
89,765,485 (GRCm39) |
missense |
probably benign |
|
RF015:Agap1
|
UTSW |
1 |
89,561,985 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTCCAGCCACAGTTCTAACGC -3'
(R):5'- ATGAAGACCAGGTAGGTCCGGTTC -3'
Sequencing Primer
(F):5'- CATGCCTGTGTGGTGACTTTTC -3'
(R):5'- AGTTCAAATCCTGCTAGGGTCAG -3'
|
Posted On |
2013-09-03 |