Incidental Mutation 'R1576:Arfgap3'
| ID |
171184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgap3
|
| Ensembl Gene |
ENSMUSG00000054277 |
| Gene Name |
ADP-ribosylation factor GTPase activating protein 3 |
| Synonyms |
1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83183940-83234448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83197764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067215]
[ENSMUST00000226124]
|
| AlphaFold |
Q9D8S3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067215
AA Change: S331P
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: S331P
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
10 |
126 |
7.18e-44 |
SMART |
|
Blast:ArfGap
|
160 |
200 |
2e-6 |
BLAST |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226124
AA Change: S331P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
| Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
probably benign |
Het |
|
| Other mutations in Arfgap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Arfgap3
|
APN |
15 |
83,206,790 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01306:Arfgap3
|
APN |
15 |
83,197,710 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01960:Arfgap3
|
APN |
15 |
83,197,758 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03029:Arfgap3
|
APN |
15 |
83,206,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Arfgap3
|
APN |
15 |
83,191,127 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03328:Arfgap3
|
APN |
15 |
83,227,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Arfgap3
|
UTSW |
15 |
83,197,710 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0103:Arfgap3
|
UTSW |
15 |
83,206,922 (GRCm39) |
splice site |
probably benign |
|
|
R0103:Arfgap3
|
UTSW |
15 |
83,206,922 (GRCm39) |
splice site |
probably benign |
|
|
R0125:Arfgap3
|
UTSW |
15 |
83,227,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0243:Arfgap3
|
UTSW |
15 |
83,214,714 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Arfgap3
|
UTSW |
15 |
83,227,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Arfgap3
|
UTSW |
15 |
83,187,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Arfgap3
|
UTSW |
15 |
83,192,389 (GRCm39) |
splice site |
probably null |
|
|
R1115:Arfgap3
|
UTSW |
15 |
83,214,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1459:Arfgap3
|
UTSW |
15 |
83,191,138 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1776:Arfgap3
|
UTSW |
15 |
83,227,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1826:Arfgap3
|
UTSW |
15 |
83,187,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2057:Arfgap3
|
UTSW |
15 |
83,194,501 (GRCm39) |
missense |
probably benign |
|
|
R2084:Arfgap3
|
UTSW |
15 |
83,218,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3407:Arfgap3
|
UTSW |
15 |
83,206,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4072:Arfgap3
|
UTSW |
15 |
83,187,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Arfgap3
|
UTSW |
15 |
83,187,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Arfgap3
|
UTSW |
15 |
83,206,869 (GRCm39) |
missense |
probably benign |
|
|
R4449:Arfgap3
|
UTSW |
15 |
83,218,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Arfgap3
|
UTSW |
15 |
83,194,497 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5193:Arfgap3
|
UTSW |
15 |
83,216,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5364:Arfgap3
|
UTSW |
15 |
83,198,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Arfgap3
|
UTSW |
15 |
83,234,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Arfgap3
|
UTSW |
15 |
83,214,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7154:Arfgap3
|
UTSW |
15 |
83,220,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Arfgap3
|
UTSW |
15 |
83,191,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7582:Arfgap3
|
UTSW |
15 |
83,187,302 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7714:Arfgap3
|
UTSW |
15 |
83,192,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8269:Arfgap3
|
UTSW |
15 |
83,194,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9352:Arfgap3
|
UTSW |
15 |
83,191,127 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9712:Arfgap3
|
UTSW |
15 |
83,197,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9729:Arfgap3
|
UTSW |
15 |
83,192,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arfgap3
|
UTSW |
15 |
83,216,889 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATGGCTCCCTACACTGTTTC -3'
(R):5'- ACAAGTGGCACACATGGTTCTTGG -3'
Sequencing Primer
(F):5'- GCACACAGACGCTTGTCAG -3'
(R):5'- CAATGGCTTCCAGTTTCCAAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation