Incidental Mutation 'IGL03303:Agap1'
ID |
416287 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03303
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89592874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 307
(V307D)
|
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: V307D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027521 Gene: ENSMUSG00000055013 AA Change: V307D
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 damaging
Transcript: ENSMUST00000074945
AA Change: V173D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074478 Gene: ENSMUSG00000055013 AA Change: V173D
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 |
noncoding transcript
Transcript: ENSMUST00000186098
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190096
AA Change: V307D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140599 Gene: ENSMUSG00000055013 AA Change: V307D
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
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 |
K3955:Agap1
|
UTSW |
1 |
89,815,326 (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 |
|
|
Posted On |
2016-08-02 |