Incidental Mutation 'R6879:Agap1'
| ID |
536543 |
| 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 |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89694177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 492
(I492F)
|
| 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: I492F
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: I492F
| 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 |
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
|
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 |
|
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'- TCACCTGACTTGTTTATTCCTAGGG -3'
(R):5'- TTTAAGGTCTACGCCCTGAGC -3'
Sequencing Primer
(F):5'- CTAGGGAATGTCACTAGTGCGTC -3'
(R):5'- TCTACGCCCTGAGCAGAGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation