Incidental Mutation 'R0383:Arfgef1'
| ID |
31043 |
| 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 |
038589-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
10207796-10302895 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 10269067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088615]
[ENSMUST00000088615]
[ENSMUST00000131556]
[ENSMUST00000131556]
|
| AlphaFold |
G3X9K3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088615
|
| SMART Domains |
Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
| 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 null
Transcript: ENSMUST00000088615
|
| SMART Domains |
Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
| 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 null
Transcript: ENSMUST00000131556
|
| SMART Domains |
Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131556
|
| SMART Domains |
Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192111
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
T |
11: 80,254,767 (GRCm39) |
Y351* |
probably null |
Het |
| Aadac |
G |
T |
3: 59,943,368 (GRCm39) |
R91L |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,370 (GRCm39) |
F621Y |
probably damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,775 (GRCm39) |
D511E |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,782,097 (GRCm39) |
D376V |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,100,400 (GRCm39) |
C399F |
probably benign |
Het |
| Arhgef4 |
G |
A |
1: 34,849,614 (GRCm39) |
V546M |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,765,020 (GRCm39) |
V98E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,651,856 (GRCm39) |
N108D |
probably damaging |
Het |
| Car15 |
C |
A |
16: 17,654,617 (GRCm39) |
E134* |
probably null |
Het |
| Ccdc80 |
T |
G |
16: 44,915,732 (GRCm39) |
Y163D |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,841,268 (GRCm39) |
M537V |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,740,853 (GRCm39) |
G513D |
unknown |
Het |
| Col8a1 |
T |
C |
16: 57,452,805 (GRCm39) |
D66G |
probably damaging |
Het |
| Crot |
C |
A |
5: 9,018,734 (GRCm39) |
S544I |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,435,770 (GRCm39) |
P1062Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,553,334 (GRCm39) |
V774E |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,647,818 (GRCm39) |
M240L |
probably benign |
Het |
| Dlx4 |
A |
G |
11: 95,036,261 (GRCm39) |
V16A |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,958,373 (GRCm39) |
H2703Q |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,122,291 (GRCm39) |
|
probably null |
Het |
| Fn1 |
C |
T |
1: 71,636,844 (GRCm39) |
V168I |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,359 (GRCm39) |
D122V |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,313,923 (GRCm39) |
I463N |
probably benign |
Het |
| Ggta1 |
G |
T |
2: 35,292,416 (GRCm39) |
P297Q |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,457 (GRCm39) |
R231S |
probably damaging |
Het |
| Gpc1 |
T |
C |
1: 92,782,705 (GRCm39) |
Y151H |
probably damaging |
Het |
| Gpr141b |
A |
G |
13: 19,913,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,973 (GRCm39) |
W119R |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,253 (GRCm39) |
I304V |
probably benign |
Het |
| Helq |
T |
C |
5: 100,927,031 (GRCm39) |
K685R |
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,418,712 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,885,818 (GRCm39) |
C1186R |
probably damaging |
Het |
| Ift43 |
T |
C |
12: 86,208,795 (GRCm39) |
V158A |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,586 (GRCm39) |
Y56H |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,070,429 (GRCm39) |
I141N |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,149 (GRCm39) |
N1276S |
probably benign |
Het |
| Kif19a |
A |
T |
11: 114,656,340 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kif1b |
T |
G |
4: 149,286,969 (GRCm39) |
H1241P |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,144,510 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Klb |
T |
A |
5: 65,529,842 (GRCm39) |
|
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,131 (GRCm39) |
Y163* |
probably null |
Het |
| Lefty1 |
G |
T |
1: 180,765,199 (GRCm39) |
E256* |
probably null |
Het |
| Lox |
T |
C |
18: 52,662,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,949,663 (GRCm39) |
Y565C |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,349,783 (GRCm39) |
A961V |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,253,619 (GRCm39) |
K496R |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,744,971 (GRCm39) |
H352Q |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,851,310 (GRCm39) |
I188V |
possibly damaging |
Het |
| Notum |
G |
T |
11: 120,545,282 (GRCm39) |
H426N |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,458 (GRCm39) |
I301F |
possibly damaging |
Het |
| Orm2 |
A |
T |
4: 63,282,233 (GRCm39) |
D137V |
probably damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,448 (GRCm39) |
G571D |
probably damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,191,735 (GRCm39) |
N599S |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,080 (GRCm39) |
V335A |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,556,446 (GRCm39) |
D592A |
probably damaging |
Het |
| Pmch |
C |
A |
10: 87,927,120 (GRCm39) |
T41K |
possibly damaging |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Pter |
G |
T |
2: 13,005,753 (GRCm39) |
G309* |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,219,024 (GRCm38) |
V406A |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,184 (GRCm39) |
E467V |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,549,312 (GRCm39) |
C248Y |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,253,914 (GRCm39) |
W617R |
probably damaging |
Het |
| Smyd5 |
C |
T |
6: 85,417,155 (GRCm39) |
Q178* |
probably null |
Het |
| St18 |
T |
A |
1: 6,873,248 (GRCm39) |
F328I |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,610,570 (GRCm39) |
L124* |
probably null |
Het |
| Tarbp1 |
T |
A |
8: 127,174,223 (GRCm39) |
H861L |
probably benign |
Het |
| Tars1 |
A |
G |
15: 11,390,411 (GRCm39) |
M356T |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,162,819 (GRCm39) |
T221A |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,553,672 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
A |
G |
16: 25,240,985 (GRCm39) |
T254A |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,220,545 (GRCm39) |
N2427K |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,036 (GRCm39) |
S380P |
probably damaging |
Het |
| Tyrobp |
C |
T |
7: 30,114,042 (GRCm39) |
R68C |
probably damaging |
Het |
| Ubl4b |
T |
C |
3: 107,462,143 (GRCm39) |
E39G |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,863 (GRCm39) |
F661I |
probably damaging |
Het |
| Upf3b |
A |
G |
X: 36,368,120 (GRCm39) |
I144T |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,320 (GRCm39) |
D1165E |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,281 (GRCm39) |
T724I |
possibly damaging |
Het |
| Vsig1 |
A |
G |
X: 139,837,062 (GRCm39) |
I247M |
possibly damaging |
Het |
| Zfp110 |
C |
A |
7: 12,583,187 (GRCm39) |
L612I |
probably benign |
Het |
| Zfp318 |
C |
A |
17: 46,724,222 (GRCm39) |
T2075K |
probably damaging |
Het |
| Zfp37 |
A |
G |
4: 62,110,122 (GRCm39) |
M1T |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,720 (GRCm39) |
C613S |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,769,792 (GRCm39) |
P146S |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,896,791 (GRCm39) |
N427S |
probably benign |
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 |
|
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 |
|
R4652:Arfgef1
|
UTSW |
1 |
10,243,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ACTGCTGCACATCCTTTCTCAAATAGTG -3'
(R):5'- ACTGTGCCAGAAGGCTGAATGATTTATG -3'
Sequencing Primer
(F):5'- CAAAAATTTTAAGATTCCACAGGACA -3'
(R):5'- AAGGCTGAATGATTTATGATAGGATG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation