Incidental Mutation 'R0030:Agap1'
ID |
64509 |
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 |
MMRRC Submission |
038324-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R0030 (G1)
|
Quality Score |
107 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 89816466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 755
(Y755*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
|
AlphaFold |
Q8BXK8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027521
AA Change: Y808*
|
SMART Domains |
Protein: ENSMUSP00000027521 Gene: ENSMUSG00000055013 AA Change: Y808*
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 null
Transcript: ENSMUST00000074945
AA Change: Y621*
|
SMART Domains |
Protein: ENSMUSP00000074478 Gene: ENSMUSG00000055013 AA Change: Y621*
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 null
Transcript: ENSMUST00000190096
AA Change: Y755*
|
SMART Domains |
Protein: ENSMUSP00000140599 Gene: ENSMUSG00000055013 AA Change: Y755*
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
Ank1 |
C |
A |
8: 23,583,909 (GRCm39) |
D337E |
probably damaging |
Het |
Ankrd65 |
A |
C |
4: 155,875,942 (GRCm39) |
R72S |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
Cyp4f40 |
T |
C |
17: 32,894,947 (GRCm39) |
S462P |
probably damaging |
Het |
Dxo |
A |
G |
17: 35,056,914 (GRCm39) |
R132G |
probably damaging |
Het |
Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
Fry |
T |
A |
5: 150,296,034 (GRCm39) |
C480* |
probably null |
Het |
Gak |
C |
T |
5: 108,761,413 (GRCm39) |
W206* |
probably null |
Het |
Ggt7 |
G |
T |
2: 155,348,408 (GRCm39) |
D5E |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,400,651 (GRCm39) |
G339* |
probably null |
Het |
Ikzf3 |
T |
C |
11: 98,358,438 (GRCm39) |
T300A |
probably benign |
Het |
Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,867 (GRCm39) |
M261K |
possibly damaging |
Het |
Pax1 |
C |
A |
2: 147,210,502 (GRCm39) |
F412L |
probably damaging |
Het |
Polg |
A |
T |
7: 79,101,876 (GRCm39) |
I1006N |
probably damaging |
Het |
Ppp4c |
A |
G |
7: 126,387,605 (GRCm39) |
V51A |
possibly damaging |
Het |
Scn10a |
G |
C |
9: 119,499,056 (GRCm39) |
T304R |
probably benign |
Het |
Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
Ubr4 |
G |
T |
4: 139,154,104 (GRCm39) |
V2104L |
probably damaging |
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 |
K3955:Agap1
|
UTSW |
1 |
89,815,326 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGCCAACTTGAAGTCCTCTTTGACC -3'
(R):5'- TCGTGTGCTATCCTCAAAGCCG -3'
Sequencing Primer
(F):5'- GGTTCAGAGCCTGGTCTAAAC -3'
(R):5'- AAAGAGTTCCGTCCTGTGGC -3'
|
Posted On |
2013-08-06 |