Incidental Mutation 'IGL02447:Agfg1'
| ID |
294059 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agfg1
|
| Ensembl Gene |
ENSMUSG00000026159 |
| Gene Name |
ArfGAP with FG repeats 1 |
| Synonyms |
D730048C23Rik, Hrb, C130049H11Rik, Rip |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02447
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
82817204-82878903 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 82859944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063380]
[ENSMUST00000113444]
[ENSMUST00000186043]
[ENSMUST00000186302]
[ENSMUST00000187899]
[ENSMUST00000189220]
[ENSMUST00000190052]
|
| AlphaFold |
Q8K2K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063380
|
| SMART Domains |
Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
9.31e-52 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
214 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
415 |
450 |
2.43e-6 |
PROSPERO |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
510 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
518 |
558 |
2.43e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113444
|
| SMART Domains |
Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
4.7e-54 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
214 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
415 |
450 |
2.62e-6 |
PROSPERO |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
510 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
520 |
560 |
2.62e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186043
|
| SMART Domains |
Protein: ENSMUSP00000140678
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
1 |
66 |
4.1e-5 |
SMART |
|
PDB:2VX8|D
|
86 |
117 |
7e-7 |
PDB |
|
low complexity region
|
145 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186302
|
| SMART Domains |
Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
4.6e-54 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
214 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
415 |
450 |
2.62e-6 |
PROSPERO |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
510 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
520 |
560 |
2.62e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187899
|
| SMART Domains |
Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
4.6e-54 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
375 |
410 |
6.63e-6 |
PROSPERO |
|
low complexity region
|
412 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
470 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
480 |
520 |
6.63e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189220
|
| SMART Domains |
Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
9.31e-52 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
214 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
415 |
450 |
2.43e-6 |
PROSPERO |
|
low complexity region
|
452 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
510 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
518 |
558 |
2.43e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190052
|
| SMART Domains |
Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
135 |
4.6e-54 |
SMART |
|
PDB:2VX8|D
|
155 |
186 |
3e-6 |
PDB |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
375 |
410 |
2.33e-5 |
PROSPERO |
|
low complexity region
|
465 |
486 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
496 |
536 |
2.33e-5 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene are infertile as a result of abnormalities in spermatogenesis. Otherwise, males and females are normal and live a normal life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
| Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
| Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
| Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
| Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
| Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
| Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
| Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,497 (GRCm39) |
|
probably null |
Het |
| Itpkb |
A |
G |
1: 180,248,919 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
| Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
| Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
| Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
| Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
| Ripor3 |
G |
T |
2: 167,834,750 (GRCm39) |
T247N |
probably damaging |
Het |
| Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,234,856 (GRCm39) |
E326G |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
| Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
| Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Agfg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Agfg1
|
APN |
1 |
82,836,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Agfg1
|
APN |
1 |
82,871,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Agfg1
|
UTSW |
1 |
82,863,823 (GRCm39) |
splice site |
probably benign |
|
|
R0038:Agfg1
|
UTSW |
1 |
82,863,823 (GRCm39) |
splice site |
probably benign |
|
|
R0548:Agfg1
|
UTSW |
1 |
82,864,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0962:Agfg1
|
UTSW |
1 |
82,864,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1213:Agfg1
|
UTSW |
1 |
82,853,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Agfg1
|
UTSW |
1 |
82,871,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Agfg1
|
UTSW |
1 |
82,860,008 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4477:Agfg1
|
UTSW |
1 |
82,853,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Agfg1
|
UTSW |
1 |
82,864,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Agfg1
|
UTSW |
1 |
82,871,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Agfg1
|
UTSW |
1 |
82,848,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5663:Agfg1
|
UTSW |
1 |
82,871,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Agfg1
|
UTSW |
1 |
82,836,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6699:Agfg1
|
UTSW |
1 |
82,836,175 (GRCm39) |
splice site |
probably null |
|
|
R7266:Agfg1
|
UTSW |
1 |
82,859,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7408:Agfg1
|
UTSW |
1 |
82,860,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Agfg1
|
UTSW |
1 |
82,860,132 (GRCm39) |
nonsense |
probably null |
|
|
R8737:Agfg1
|
UTSW |
1 |
82,871,243 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8884:Agfg1
|
UTSW |
1 |
82,860,110 (GRCm39) |
nonsense |
probably null |
|
|
R8887:Agfg1
|
UTSW |
1 |
82,848,525 (GRCm39) |
splice site |
probably benign |
|
|
R9034:Agfg1
|
UTSW |
1 |
82,853,913 (GRCm39) |
nonsense |
probably null |
|
|
R9060:Agfg1
|
UTSW |
1 |
82,872,254 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9117:Agfg1
|
UTSW |
1 |
82,872,216 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9401:Agfg1
|
UTSW |
1 |
82,859,958 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2015-04-16 |
Incidental Mutation