Incidental Mutation 'R4652:Arfgef1'
| ID |
351343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgef1
|
| Ensembl Gene |
ENSMUSG00000067851 |
| Gene Name |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
| Synonyms |
D730028O18Rik, D130059B05Rik, BIG1, P200, ARFGEP1 |
| MMRRC Submission |
041912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4652 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
10207796-10302895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10243487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1021
(D1021N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088615]
[ENSMUST00000131556]
|
| AlphaFold |
G3X9K3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088615
AA Change: D1021N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: D1021N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DCB
|
28 |
213 |
5.2e-45 |
PFAM |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
306 |
N/A |
INTRINSIC |
|
Pfam:Sec7_N
|
416 |
575 |
1.3e-52 |
PFAM |
|
Blast:Sec7
|
588 |
637 |
6e-24 |
BLAST |
|
low complexity region
|
661 |
681 |
N/A |
INTRINSIC |
|
Sec7
|
692 |
879 |
1.15e-105 |
SMART |
|
Blast:Sec7
|
897 |
933 |
6e-13 |
BLAST |
|
Blast:Sec7
|
947 |
986 |
8e-18 |
BLAST |
|
Pfam:DUF1981
|
1217 |
1300 |
3.6e-39 |
PFAM |
|
low complexity region
|
1587 |
1602 |
N/A |
INTRINSIC |
|
low complexity region
|
1777 |
1782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131556
AA Change: D1021N
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: D1021N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
207 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
306 |
N/A |
INTRINSIC |
|
Pfam:Sec7_N
|
413 |
576 |
3.1e-59 |
PFAM |
|
Blast:Sec7
|
588 |
637 |
2e-24 |
BLAST |
|
low complexity region
|
661 |
681 |
N/A |
INTRINSIC |
|
Sec7
|
692 |
879 |
1.15e-105 |
SMART |
|
Blast:Sec7
|
897 |
933 |
3e-13 |
BLAST |
|
Blast:Sec7
|
947 |
986 |
2e-18 |
BLAST |
|
| Meta Mutation Damage Score |
0.2318 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (111/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
A |
8: 125,366,350 (GRCm39) |
Q131L |
probably damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| A830018L16Rik |
C |
A |
1: 11,607,566 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
A |
G |
8: 43,974,375 (GRCm39) |
V209A |
possibly damaging |
Het |
| Adh6a |
T |
A |
3: 138,031,876 (GRCm39) |
M256K |
probably benign |
Het |
| Ahnak2 |
T |
G |
12: 112,741,271 (GRCm39) |
S128R |
possibly damaging |
Het |
| Angptl2 |
G |
T |
2: 33,133,895 (GRCm39) |
D406Y |
probably damaging |
Het |
| Ano10 |
A |
T |
9: 122,090,181 (GRCm39) |
Y377* |
probably null |
Het |
| Arhgap17 |
G |
A |
7: 122,885,841 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,085,472 (GRCm39) |
G284S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,271,421 (GRCm39) |
D498E |
probably damaging |
Het |
| C4a |
T |
A |
17: 35,029,108 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
| Camsap3 |
A |
C |
8: 3,650,689 (GRCm39) |
K223T |
possibly damaging |
Het |
| Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
| Cdh8 |
T |
A |
8: 99,751,491 (GRCm39) |
D742V |
probably benign |
Het |
| Ceacam12 |
A |
G |
7: 17,801,359 (GRCm39) |
T113A |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,431,604 (GRCm39) |
|
probably null |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Cntn5 |
C |
A |
9: 9,704,917 (GRCm39) |
K832N |
possibly damaging |
Het |
| Col12a1 |
A |
T |
9: 79,520,228 (GRCm39) |
D2815E |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,556 (GRCm39) |
T148A |
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,037 (GRCm39) |
I607T |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,596,083 (GRCm39) |
N4K |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,408,419 (GRCm39) |
L140M |
probably benign |
Het |
| Dhx58 |
T |
A |
11: 100,592,185 (GRCm39) |
N288Y |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,068,090 (GRCm39) |
Y554N |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,806,207 (GRCm39) |
Y127H |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,047,580 (GRCm39) |
M3140V |
probably benign |
Het |
| Dnd1 |
G |
A |
18: 36,898,114 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,492,924 (GRCm39) |
T719I |
probably benign |
Het |
| Erlin1 |
T |
A |
19: 44,029,231 (GRCm39) |
K234* |
probably null |
Het |
| Fndc7 |
T |
C |
3: 108,770,135 (GRCm39) |
N597S |
probably benign |
Het |
| Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,272,716 (GRCm39) |
H846R |
probably benign |
Het |
| Gm10375 |
C |
A |
14: 43,844,326 (GRCm39) |
|
probably null |
Het |
| Gm27047 |
T |
C |
6: 130,607,479 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7168 |
A |
G |
17: 14,170,069 (GRCm39) |
R479G |
possibly damaging |
Het |
| Gm9996 |
T |
A |
10: 29,019,754 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
T |
A |
5: 18,220,568 (GRCm39) |
L247H |
probably damaging |
Het |
| H2-D1 |
T |
G |
17: 35,485,492 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
T |
G |
8: 61,346,764 (GRCm39) |
S26R |
possibly damaging |
Het |
| Ift80 |
T |
A |
3: 68,822,273 (GRCm39) |
N627I |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,593,173 (GRCm39) |
K91R |
probably benign |
Het |
| Irgc |
C |
A |
7: 24,132,238 (GRCm39) |
R193L |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,524,160 (GRCm39) |
W790R |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,539,877 (GRCm39) |
L188P |
probably damaging |
Het |
| Med8 |
A |
T |
4: 118,268,089 (GRCm39) |
E5V |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,615,509 (GRCm39) |
C498* |
probably null |
Het |
| Mettl3 |
T |
A |
14: 52,532,549 (GRCm39) |
I545F |
probably damaging |
Het |
| Mvp |
T |
A |
7: 126,592,721 (GRCm39) |
I397F |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,860,876 (GRCm39) |
|
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,314,444 (GRCm39) |
D713E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,929,703 (GRCm39) |
R5824C |
probably damaging |
Het |
| Or4f6 |
G |
T |
2: 111,838,595 (GRCm39) |
S312Y |
probably damaging |
Het |
| Or6c214 |
T |
C |
10: 129,591,287 (GRCm39) |
I11V |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,826,762 (GRCm39) |
|
probably benign |
Het |
| Pde10a |
T |
A |
17: 8,975,885 (GRCm39) |
N3K |
possibly damaging |
Het |
| Pgm3 |
T |
A |
9: 86,440,523 (GRCm39) |
R389S |
probably benign |
Het |
| Piwil4 |
G |
A |
9: 14,623,604 (GRCm39) |
R529* |
probably null |
Het |
| Pkd2l2 |
A |
T |
18: 34,542,889 (GRCm39) |
R20* |
probably null |
Het |
| Ppp4r3a |
T |
A |
12: 101,049,170 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,284,333 (GRCm39) |
V501A |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,572,412 (GRCm39) |
T400A |
probably damaging |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,550,843 (GRCm39) |
H40Q |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,091,985 (GRCm39) |
H371Q |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,139,686 (GRCm39) |
I137T |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,677,863 (GRCm39) |
G366E |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,423,200 (GRCm39) |
D2085G |
possibly damaging |
Het |
| Sfxn3 |
A |
G |
19: 45,039,313 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
C |
6: 4,689,560 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,469,245 (GRCm39) |
L1248* |
probably null |
Het |
| Skint7 |
T |
G |
4: 111,839,309 (GRCm39) |
M201R |
probably damaging |
Het |
| Slc18a1 |
A |
G |
8: 69,496,583 (GRCm39) |
M360T |
possibly damaging |
Het |
| Srp68 |
A |
T |
11: 116,164,840 (GRCm39) |
S31R |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,204,829 (GRCm39) |
D985E |
possibly damaging |
Het |
| Tars3 |
T |
A |
7: 65,339,717 (GRCm39) |
V704E |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,089,940 (GRCm39) |
F863S |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,669,121 (GRCm39) |
S41P |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,554,637 (GRCm39) |
Y463H |
probably damaging |
Het |
| Trim24 |
T |
G |
6: 37,934,774 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,576,979 (GRCm39) |
V24638A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,701,213 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,892,986 (GRCm39) |
S915P |
probably benign |
Het |
| Tyro3 |
G |
C |
2: 119,647,349 (GRCm39) |
G826A |
probably benign |
Het |
| Ubxn4 |
T |
A |
1: 128,202,587 (GRCm39) |
W410R |
probably benign |
Het |
| Vmn1r193 |
C |
T |
13: 22,403,695 (GRCm39) |
G99D |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,761,656 (GRCm39) |
K567M |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,689 (GRCm39) |
F681L |
probably damaging |
Het |
| Vrk2 |
T |
C |
11: 26,439,803 (GRCm39) |
D256G |
probably damaging |
Het |
| Vwa3a |
T |
A |
7: 120,378,138 (GRCm39) |
I476N |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,342,066 (GRCm39) |
V1067A |
probably damaging |
Het |
| Zcwpw2 |
A |
G |
9: 117,843,119 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Arfgef1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Arfgef1
|
APN |
1 |
10,270,012 (GRCm39) |
missense |
probably benign |
|
|
IGL00919:Arfgef1
|
APN |
1 |
10,243,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01022:Arfgef1
|
APN |
1 |
10,244,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Arfgef1
|
APN |
1 |
10,269,207 (GRCm39) |
splice site |
probably benign |
|
|
IGL01288:Arfgef1
|
APN |
1 |
10,283,436 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01397:Arfgef1
|
APN |
1 |
10,229,796 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01433:Arfgef1
|
APN |
1 |
10,223,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Arfgef1
|
APN |
1 |
10,230,133 (GRCm39) |
nonsense |
probably null |
|
|
IGL01669:Arfgef1
|
APN |
1 |
10,229,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01795:Arfgef1
|
APN |
1 |
10,217,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01860:Arfgef1
|
APN |
1 |
10,224,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Arfgef1
|
APN |
1 |
10,283,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Arfgef1
|
APN |
1 |
10,270,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02519:Arfgef1
|
APN |
1 |
10,279,893 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02542:Arfgef1
|
APN |
1 |
10,243,067 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02604:Arfgef1
|
APN |
1 |
10,251,275 (GRCm39) |
splice site |
probably benign |
|
|
IGL02743:Arfgef1
|
APN |
1 |
10,270,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03225:Arfgef1
|
APN |
1 |
10,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Collected
|
UTSW |
1 |
10,251,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
uncle_joe
|
UTSW |
1 |
10,231,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Arfgef1
|
UTSW |
1 |
10,250,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Arfgef1
|
UTSW |
1 |
10,243,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Arfgef1
|
UTSW |
1 |
10,243,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Arfgef1
|
UTSW |
1 |
10,269,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0491:Arfgef1
|
UTSW |
1 |
10,250,212 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Arfgef1
|
UTSW |
1 |
10,270,076 (GRCm39) |
missense |
probably benign |
|
|
R1006:Arfgef1
|
UTSW |
1 |
10,210,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1212:Arfgef1
|
UTSW |
1 |
10,286,784 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1233:Arfgef1
|
UTSW |
1 |
10,254,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Arfgef1
|
UTSW |
1 |
10,229,958 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1416:Arfgef1
|
UTSW |
1 |
10,243,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Arfgef1
|
UTSW |
1 |
10,259,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1587:Arfgef1
|
UTSW |
1 |
10,230,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1602:Arfgef1
|
UTSW |
1 |
10,275,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1745:Arfgef1
|
UTSW |
1 |
10,243,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Arfgef1
|
UTSW |
1 |
10,275,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1832:Arfgef1
|
UTSW |
1 |
10,275,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1833:Arfgef1
|
UTSW |
1 |
10,275,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1918:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1919:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2059:Arfgef1
|
UTSW |
1 |
10,258,977 (GRCm39) |
splice site |
probably null |
|
|
R2146:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2148:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2149:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2150:Arfgef1
|
UTSW |
1 |
10,270,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2373:Arfgef1
|
UTSW |
1 |
10,244,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Arfgef1
|
UTSW |
1 |
10,223,879 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3863:Arfgef1
|
UTSW |
1 |
10,212,811 (GRCm39) |
frame shift |
probably null |
|
|
R3916:Arfgef1
|
UTSW |
1 |
10,259,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3948:Arfgef1
|
UTSW |
1 |
10,212,811 (GRCm39) |
frame shift |
probably null |
|
|
R3949:Arfgef1
|
UTSW |
1 |
10,212,811 (GRCm39) |
frame shift |
probably null |
|
|
R3977:Arfgef1
|
UTSW |
1 |
10,279,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3978:Arfgef1
|
UTSW |
1 |
10,279,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3979:Arfgef1
|
UTSW |
1 |
10,279,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4086:Arfgef1
|
UTSW |
1 |
10,233,984 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4175:Arfgef1
|
UTSW |
1 |
10,229,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4257:Arfgef1
|
UTSW |
1 |
10,229,771 (GRCm39) |
intron |
probably benign |
|
|
R4572:Arfgef1
|
UTSW |
1 |
10,283,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Arfgef1
|
UTSW |
1 |
10,212,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4737:Arfgef1
|
UTSW |
1 |
10,259,836 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4779:Arfgef1
|
UTSW |
1 |
10,223,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Arfgef1
|
UTSW |
1 |
10,286,772 (GRCm39) |
missense |
probably benign |
|
|
R4898:Arfgef1
|
UTSW |
1 |
10,229,798 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4979:Arfgef1
|
UTSW |
1 |
10,283,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Arfgef1
|
UTSW |
1 |
10,269,961 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5194:Arfgef1
|
UTSW |
1 |
10,275,132 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5428:Arfgef1
|
UTSW |
1 |
10,231,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Arfgef1
|
UTSW |
1 |
10,269,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5547:Arfgef1
|
UTSW |
1 |
10,231,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Arfgef1
|
UTSW |
1 |
10,214,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Arfgef1
|
UTSW |
1 |
10,259,085 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5697:Arfgef1
|
UTSW |
1 |
10,231,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5704:Arfgef1
|
UTSW |
1 |
10,229,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5722:Arfgef1
|
UTSW |
1 |
10,209,109 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5793:Arfgef1
|
UTSW |
1 |
10,279,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5835:Arfgef1
|
UTSW |
1 |
10,230,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Arfgef1
|
UTSW |
1 |
10,251,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Arfgef1
|
UTSW |
1 |
10,243,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Arfgef1
|
UTSW |
1 |
10,259,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6460:Arfgef1
|
UTSW |
1 |
10,283,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Arfgef1
|
UTSW |
1 |
10,264,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6802:Arfgef1
|
UTSW |
1 |
10,259,677 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6967:Arfgef1
|
UTSW |
1 |
10,223,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6967:Arfgef1
|
UTSW |
1 |
10,223,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Arfgef1
|
UTSW |
1 |
10,223,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6968:Arfgef1
|
UTSW |
1 |
10,223,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Arfgef1
|
UTSW |
1 |
10,223,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6969:Arfgef1
|
UTSW |
1 |
10,223,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Arfgef1
|
UTSW |
1 |
10,223,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6970:Arfgef1
|
UTSW |
1 |
10,223,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Arfgef1
|
UTSW |
1 |
10,223,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Arfgef1
|
UTSW |
1 |
10,269,200 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7334:Arfgef1
|
UTSW |
1 |
10,254,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Arfgef1
|
UTSW |
1 |
10,251,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7631:Arfgef1
|
UTSW |
1 |
10,302,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7699:Arfgef1
|
UTSW |
1 |
10,264,636 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7700:Arfgef1
|
UTSW |
1 |
10,264,636 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7772:Arfgef1
|
UTSW |
1 |
10,227,235 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7968:Arfgef1
|
UTSW |
1 |
10,243,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Arfgef1
|
UTSW |
1 |
10,243,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Arfgef1
|
UTSW |
1 |
10,227,194 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8301:Arfgef1
|
UTSW |
1 |
10,250,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Arfgef1
|
UTSW |
1 |
10,224,553 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8410:Arfgef1
|
UTSW |
1 |
10,229,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8411:Arfgef1
|
UTSW |
1 |
10,286,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8793:Arfgef1
|
UTSW |
1 |
10,212,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8903:Arfgef1
|
UTSW |
1 |
10,211,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Arfgef1
|
UTSW |
1 |
10,270,062 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9036:Arfgef1
|
UTSW |
1 |
10,259,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9185:Arfgef1
|
UTSW |
1 |
10,215,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Arfgef1
|
UTSW |
1 |
10,243,122 (GRCm39) |
nonsense |
probably null |
|
|
R9333:Arfgef1
|
UTSW |
1 |
10,222,037 (GRCm39) |
nonsense |
probably null |
|
|
R9335:Arfgef1
|
UTSW |
1 |
10,228,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Arfgef1
|
UTSW |
1 |
10,283,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9355:Arfgef1
|
UTSW |
1 |
10,270,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Arfgef1
|
UTSW |
1 |
10,217,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9600:Arfgef1
|
UTSW |
1 |
10,233,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9789:Arfgef1
|
UTSW |
1 |
10,243,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V1662:Arfgef1
|
UTSW |
1 |
10,243,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAGGATCTACAGCACAGAAAG -3'
(R):5'- AGCGCATAGACAGTTGGTTTAC -3'
Sequencing Primer
(F):5'- ACAGTAGAACATTTAGCATCA -3'
(R):5'- TACTAAATTAGAGGCCAGTGTGCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation