Incidental Mutation 'IGL00704:Agfg1'
ID |
8644 |
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 # |
IGL00704
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
82817204-82878903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82836124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 3
(T3I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063380]
[ENSMUST00000113444]
[ENSMUST00000186043]
[ENSMUST00000186302]
[ENSMUST00000187899]
[ENSMUST00000189220]
[ENSMUST00000190052]
|
AlphaFold |
Q8K2K6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063380
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070250 Gene: ENSMUSG00000026159 AA Change: T72I
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 |
possibly damaging
Transcript: ENSMUST00000113444
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109071 Gene: ENSMUSG00000026159 AA Change: T72I
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 damaging
Transcript: ENSMUST00000186043
AA Change: T3I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140678 Gene: ENSMUSG00000026159 AA Change: T3I
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 |
possibly damaging
Transcript: ENSMUST00000186302
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140785 Gene: ENSMUSG00000026159 AA Change: T72I
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 |
possibly damaging
Transcript: ENSMUST00000187899
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139503 Gene: ENSMUSG00000026159 AA Change: T72I
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 |
possibly damaging
Transcript: ENSMUST00000189220
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140170 Gene: ENSMUSG00000026159 AA Change: T72I
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 |
possibly damaging
Transcript: ENSMUST00000190052
AA Change: T72I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141157 Gene: ENSMUSG00000026159 AA Change: T72I
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190046
AA Change: T68I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,736,257 (GRCm39) |
I217F |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,505,904 (GRCm39) |
V644E |
possibly damaging |
Het |
Casd1 |
A |
T |
6: 4,607,979 (GRCm39) |
|
probably benign |
Het |
Chd1 |
T |
C |
17: 15,952,827 (GRCm39) |
V369A |
probably benign |
Het |
Cul2 |
T |
C |
18: 3,423,487 (GRCm39) |
V299A |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,876,178 (GRCm39) |
C1439R |
probably damaging |
Het |
Mfsd11 |
T |
C |
11: 116,749,322 (GRCm39) |
F59L |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,042,565 (GRCm39) |
D817V |
probably damaging |
Het |
Phf3 |
C |
T |
1: 30,843,919 (GRCm39) |
G1680D |
probably benign |
Het |
Pip4k2a |
G |
T |
2: 18,877,147 (GRCm39) |
T196K |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,433,769 (GRCm39) |
V606E |
probably damaging |
Het |
Slc4a2 |
A |
C |
5: 24,644,066 (GRCm39) |
I931L |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,394,314 (GRCm39) |
Y88H |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,858,294 (GRCm39) |
N54S |
probably damaging |
Het |
|
Other mutations in Agfg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02066:Agfg1
|
APN |
1 |
82,871,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02447:Agfg1
|
APN |
1 |
82,859,944 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-12-06 |