Incidental Mutation 'R4423:Arfgap1'
| ID |
327191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgap1
|
| Ensembl Gene |
ENSMUSG00000027575 |
| Gene Name |
ADP-ribosylation factor GTPase activating protein 1 |
| Synonyms |
ARF1 GAP |
| MMRRC Submission |
041143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R4423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180609018-180624319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 180622869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 327
(D327E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029092]
[ENSMUST00000108859]
[ENSMUST00000108860]
[ENSMUST00000108861]
[ENSMUST00000108862]
[ENSMUST00000185115]
[ENSMUST00000184394]
|
| AlphaFold |
Q9EPJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029092
AA Change: D317E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
AA Change: D317E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094214
|
| SMART Domains |
Protein: ENSMUSP00000091767
Gene: ENSMUSG00000070461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108859
AA Change: D295E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
AA Change: D295E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108860
AA Change: D295E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
AA Change: D295E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108861
AA Change: D297E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
AA Change: D297E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108862
AA Change: D297E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
AA Change: D297E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
290 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185115
AA Change: D327E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
AA Change: D327E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184394
AA Change: D305E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
AA Change: D305E
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
7 |
124 |
2.4e-54 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
PDB:2M0W|A
|
198 |
220 |
1e-6 |
PDB |
|
low complexity region
|
298 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150507
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| 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, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
A |
10: 100,441,495 (GRCm39) |
P100Q |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,577 (GRCm39) |
Y210C |
probably benign |
Het |
| Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
| Asgr2 |
G |
A |
11: 69,996,211 (GRCm39) |
V218I |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfap144 |
A |
T |
11: 58,687,357 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
A |
9: 114,446,988 (GRCm39) |
I363F |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,644,932 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,006,718 (GRCm39) |
G2199D |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,799,465 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,227,474 (GRCm39) |
I1689T |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,269,547 (GRCm39) |
F762S |
probably benign |
Het |
| Eif2b5 |
A |
G |
16: 20,320,469 (GRCm39) |
D195G |
probably benign |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Far1 |
T |
A |
7: 113,139,805 (GRCm39) |
S84R |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
T |
14: 31,780,226 (GRCm39) |
I508F |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,720,088 (GRCm39) |
T745A |
probably benign |
Het |
| Hira |
A |
G |
16: 18,774,952 (GRCm39) |
D959G |
possibly damaging |
Het |
| Hsf5 |
T |
C |
11: 87,522,460 (GRCm39) |
L351P |
probably damaging |
Het |
| Icosl |
C |
T |
10: 77,907,707 (GRCm39) |
T89I |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,503 (GRCm39) |
N414K |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,298,562 (GRCm39) |
S1035P |
probably damaging |
Het |
| Lcp2 |
G |
T |
11: 34,028,226 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,896,662 (GRCm39) |
T631I |
probably damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,089,752 (GRCm39) |
K1221M |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,150,948 (GRCm39) |
T333A |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,412 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,662 (GRCm39) |
T165A |
probably benign |
Het |
| Plod2 |
T |
C |
9: 92,484,042 (GRCm39) |
L502S |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,103,375 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,260,980 (GRCm39) |
I344T |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,010,875 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sec62 |
T |
C |
3: 30,868,431 (GRCm39) |
M220T |
unknown |
Het |
| Shprh |
T |
G |
10: 11,062,262 (GRCm39) |
V1219G |
possibly damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,742,651 (GRCm39) |
T72A |
probably benign |
Het |
| Slc4a2 |
G |
A |
5: 24,644,846 (GRCm39) |
W1040* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,312,018 (GRCm39) |
V470A |
possibly damaging |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Trpm2 |
T |
C |
10: 77,770,902 (GRCm39) |
D678G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,969,863 (GRCm39) |
K11E |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,861 (GRCm39) |
I234T |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,064 (GRCm39) |
K483E |
probably damaging |
Het |
| Wnk1 |
T |
A |
6: 119,903,387 (GRCm39) |
S2111C |
probably damaging |
Het |
|
| Other mutations in Arfgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Arfgap1
|
APN |
2 |
180,614,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01521:Arfgap1
|
APN |
2 |
180,613,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Arfgap1
|
APN |
2 |
180,622,237 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1858:Arfgap1
|
UTSW |
2 |
180,615,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Arfgap1
|
UTSW |
2 |
180,614,575 (GRCm39) |
missense |
probably benign |
|
|
R2509:Arfgap1
|
UTSW |
2 |
180,615,846 (GRCm39) |
splice site |
probably benign |
|
|
R4424:Arfgap1
|
UTSW |
2 |
180,622,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Arfgap1
|
UTSW |
2 |
180,622,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4569:Arfgap1
|
UTSW |
2 |
180,618,166 (GRCm39) |
splice site |
probably benign |
|
|
R5668:Arfgap1
|
UTSW |
2 |
180,615,912 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5834:Arfgap1
|
UTSW |
2 |
180,622,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5915:Arfgap1
|
UTSW |
2 |
180,620,215 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6819:Arfgap1
|
UTSW |
2 |
180,613,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7011:Arfgap1
|
UTSW |
2 |
180,613,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Arfgap1
|
UTSW |
2 |
180,618,097 (GRCm39) |
splice site |
probably null |
|
|
R7069:Arfgap1
|
UTSW |
2 |
180,615,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7350:Arfgap1
|
UTSW |
2 |
180,612,869 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8104:Arfgap1
|
UTSW |
2 |
180,621,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9110:Arfgap1
|
UTSW |
2 |
180,615,330 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTACACCTTGGTCAAATG -3'
(R):5'- AGCCATCGCTATTGCTGTTC -3'
Sequencing Primer
(F):5'- CTACACCTTGGTCAAATGTGGGC -3'
(R):5'- CTTGTTGTTGGATGCGGAACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation