Incidental Mutation 'IGL02066:Agfg1'
ID185647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agfg1
Ensembl Gene ENSMUSG00000026159
Gene NameArfGAP with FG repeats 1
SynonymsC130049H11Rik, Rip, D730048C23Rik, Hrb
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02066
Quality Score
Status
Chromosome1
Chromosomal Location82839483-82901182 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82893558 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 483 (T483A)
Ref Sequence ENSEMBL: ENSMUSP00000070250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063380] [ENSMUST00000113444] [ENSMUST00000186302] [ENSMUST00000187899] [ENSMUST00000189220] [ENSMUST00000190052]
Predicted Effect probably damaging
Transcript: ENSMUST00000063380
AA Change: T483A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
AA Change: T483A

DomainStartEndE-ValueType
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
AA Change: T473A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
AA Change: T473A

DomainStartEndE-ValueType
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: ENSMUST00000186302
AA Change: T504A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
AA Change: T504A

DomainStartEndE-ValueType
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
AA Change: T464A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
AA Change: T464A

DomainStartEndE-ValueType
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
AA Change: T504A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
AA Change: T504A

DomainStartEndE-ValueType
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: T524A
Predicted Effect probably benign
Transcript: ENSMUST00000190052
AA Change: T480A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
AA Change: T480A

DomainStartEndE-ValueType
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Akr1c12 T C 13: 4,276,237 T82A probably damaging Het
Ano2 T A 6: 125,690,739 L6Q probably benign Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam83d C T 2: 158,785,873 T494M probably benign Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ppp6c T C 2: 39,199,671 T199A probably benign Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Agfg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Agfg1 APN 1 82858403 missense probably damaging 1.00
IGL02447:Agfg1 APN 1 82882223 splice site probably benign
R0038:Agfg1 UTSW 1 82886102 splice site probably benign
R0038:Agfg1 UTSW 1 82886102 splice site probably benign
R0548:Agfg1 UTSW 1 82886431 missense probably damaging 0.97
R0962:Agfg1 UTSW 1 82886396 missense probably damaging 1.00
R1213:Agfg1 UTSW 1 82875334 missense probably damaging 1.00
R1638:Agfg1 UTSW 1 82893538 missense probably damaging 1.00
R4078:Agfg1 UTSW 1 82882287 missense possibly damaging 0.94
R4477:Agfg1 UTSW 1 82875340 missense probably damaging 1.00
R4780:Agfg1 UTSW 1 82886387 missense probably damaging 1.00
R5103:Agfg1 UTSW 1 82893567 missense probably damaging 1.00
R5576:Agfg1 UTSW 1 82870724 missense probably benign 0.01
R5663:Agfg1 UTSW 1 82893452 missense probably damaging 1.00
R6314:Agfg1 UTSW 1 82858434 missense probably damaging 1.00
R6699:Agfg1 UTSW 1 82858454 splice site probably null
Posted On2014-05-07