Incidental Mutation 'R1984:Agap1'
| ID |
220255 |
| 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 |
039996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R1984 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89694045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 448
(S448P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
|
| AlphaFold |
Q8BXK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027521
AA Change: S448P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: S448P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,324,778 (GRCm39) |
L81H |
probably damaging |
Het |
| Abca8b |
A |
G |
11: 109,868,667 (GRCm39) |
C166R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,671,868 (GRCm39) |
E2242D |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,160,334 (GRCm39) |
L120P |
probably damaging |
Het |
| Alkbh2 |
T |
C |
5: 114,262,115 (GRCm39) |
N205S |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,511,608 (GRCm39) |
G493C |
possibly damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,220 (GRCm39) |
I497F |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,354 (GRCm39) |
S826P |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,928 (GRCm39) |
R1129S |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,159 (GRCm39) |
Q89L |
probably benign |
Het |
| Bche |
G |
T |
3: 73,609,160 (GRCm39) |
Q89K |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,121,050 (GRCm39) |
K171E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,538,998 (GRCm39) |
Y1488N |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
| Dok6 |
T |
C |
18: 89,578,234 (GRCm39) |
E61G |
probably damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,785 (GRCm39) |
Q143L |
possibly damaging |
Het |
| Esf1 |
A |
T |
2: 139,990,806 (GRCm39) |
D559E |
possibly damaging |
Het |
| F11r |
A |
G |
1: 171,289,438 (GRCm39) |
I254V |
probably benign |
Het |
| Fkrp |
A |
G |
7: 16,545,802 (GRCm39) |
V20A |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,521,457 (GRCm39) |
E3G |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,714,833 (GRCm39) |
V156A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,889,782 (GRCm39) |
S2422P |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
| Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
| Isg15 |
T |
C |
4: 156,284,250 (GRCm39) |
I93V |
probably benign |
Het |
| Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
| Marchf6 |
A |
T |
15: 31,469,792 (GRCm39) |
L726Q |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,352,124 (GRCm39) |
G1210C |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 88,026,724 (GRCm39) |
T740I |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,288,446 (GRCm39) |
Y514C |
probably damaging |
Het |
| Myorg |
C |
A |
4: 41,497,501 (GRCm39) |
A710S |
possibly damaging |
Het |
| Nedd1 |
T |
C |
10: 92,550,022 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,135 (GRCm39) |
I17L |
probably benign |
Het |
| Or11g24 |
A |
T |
14: 50,662,848 (GRCm39) |
I291L |
possibly damaging |
Het |
| Palb2 |
A |
C |
7: 121,726,303 (GRCm39) |
H522Q |
probably damaging |
Het |
| Pde4c |
C |
T |
8: 71,177,191 (GRCm39) |
T6M |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,181 (GRCm39) |
K97E |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
| Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,246 (GRCm39) |
V257A |
probably damaging |
Het |
| Rpl14 |
A |
G |
9: 120,401,253 (GRCm39) |
D32G |
possibly damaging |
Het |
| Senp8 |
A |
G |
9: 59,644,721 (GRCm39) |
V132A |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,095,964 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
T |
A |
2: 32,639,256 (GRCm39) |
C295* |
probably null |
Het |
| Stab1 |
A |
G |
14: 30,872,605 (GRCm39) |
F1142L |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
G |
15: 66,554,691 (GRCm39) |
E702G |
probably benign |
Het |
| Tgif2lx2 |
A |
T |
X: 117,337,690 (GRCm39) |
K218* |
probably null |
Het |
| Tpp1 |
C |
A |
7: 105,400,905 (GRCm39) |
V41L |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp683 |
T |
C |
4: 133,784,766 (GRCm39) |
F338L |
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 |
|
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 |
|
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'- GCTGTACCAGGCTTCCTTTG -3'
(R):5'- ATTGGTGAGACATGCGTGC -3'
Sequencing Primer
(F):5'- CAGGCTTCCTTTGACTTACTGGAG -3'
(R):5'- ACTGTCAGAGCAGCCCATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation