Incidental Mutation 'R4477:Agfg1'
| ID |
331300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agfg1
|
| Ensembl Gene |
ENSMUSG00000026159 |
| Gene Name |
ArfGAP with FG repeats 1 |
| Synonyms |
D730048C23Rik, Hrb, C130049H11Rik, Rip |
| MMRRC Submission |
041734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82817204-82878903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82853061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| 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: S144P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
AA Change: S144P
| 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: S144P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
AA Change: S144P
| 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: S75P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140678
Gene: ENSMUSG00000026159
AA Change: S75P
| 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: S144P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
AA Change: S144P
| 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: S144P
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
AA Change: S144P
| 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: S144P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
AA Change: S144P
| 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 |
unknown
Transcript: ENSMUST00000190046
AA Change: S140P
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190052
AA Change: S144P
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
AA Change: S144P
| 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 |
|
| Meta Mutation Damage Score |
0.1055 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (39/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,186,383 (GRCm39) |
S549P |
probably damaging |
Het |
| AK157302 |
T |
A |
13: 21,679,861 (GRCm39) |
V129E |
possibly damaging |
Het |
| Angpt1 |
A |
G |
15: 42,331,560 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,531,448 (GRCm39) |
I230N |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,789 (GRCm39) |
N77S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,607,200 (GRCm39) |
V1235M |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dbn1 |
CCCGCTCCCGGTAGCGCCGCTC |
CCCGCTC |
13: 55,629,374 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,274,744 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Gm7138 |
A |
T |
10: 77,612,246 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,422,781 (GRCm39) |
A890T |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,625 (GRCm39) |
T426A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Lrrc71 |
G |
C |
3: 87,649,972 (GRCm39) |
R319G |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mmp19 |
A |
T |
10: 128,631,506 (GRCm39) |
T129S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,784,582 (GRCm39) |
D1458G |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,487,487 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pdlim5 |
C |
T |
3: 141,964,978 (GRCm39) |
S417N |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,134,153 (GRCm39) |
S478P |
probably damaging |
Het |
| Plekhn1 |
G |
A |
4: 156,307,856 (GRCm39) |
R357W |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,842 (GRCm39) |
T772A |
unknown |
Het |
| Pramel20 |
A |
G |
4: 143,297,732 (GRCm39) |
I51V |
probably benign |
Het |
| Rasgef1a |
A |
T |
6: 118,062,436 (GRCm39) |
H232L |
possibly damaging |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,024,428 (GRCm39) |
N107S |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,215,036 (GRCm39) |
S202P |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
G |
A |
2: 114,027,365 (GRCm39) |
L235F |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATCAGAGGTGAATGATGCATTTAC -3'
(R):5'- TAGAGTTACCAGCCTCACCTG -3'
Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- TAGAGTTACCAGCCTCACCTGACTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation