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) question?
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

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 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

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 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

DomainStartEndE-ValueType
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

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 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

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 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

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 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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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