Incidental Mutation 'IGL01521:Arfgap1'
ID90520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arfgap1
Ensembl Gene ENSMUSG00000027575
Gene NameADP-ribosylation factor GTPase activating protein 1
SynonymsARF1 GAP
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.447) question?
Stock #IGL01521
Quality Score
Status
Chromosome2
Chromosomal Location180967225-180982526 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 180971578 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 22 (C22Y)
Ref Sequence ENSEMBL: ENSMUSP00000139222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029092] [ENSMUST00000108859] [ENSMUST00000108860] [ENSMUST00000108861] [ENSMUST00000108862] [ENSMUST00000184394] [ENSMUST00000185115]
Predicted Effect probably damaging
Transcript: ENSMUST00000029092
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 310 327 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
low complexity region 359 392 N/A INTRINSIC
low complexity region 394 401 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108859
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 288 305 N/A INTRINSIC
low complexity region 312 325 N/A INTRINSIC
low complexity region 337 370 N/A INTRINSIC
low complexity region 372 379 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108860
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 288 305 N/A INTRINSIC
low complexity region 312 325 N/A INTRINSIC
low complexity region 337 370 N/A INTRINSIC
low complexity region 372 379 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108861
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 290 307 N/A INTRINSIC
low complexity region 314 327 N/A INTRINSIC
low complexity region 339 372 N/A INTRINSIC
low complexity region 374 381 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108862
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 290 307 N/A INTRINSIC
low complexity region 314 327 N/A INTRINSIC
low complexity region 339 372 N/A INTRINSIC
low complexity region 374 381 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154616
Predicted Effect probably damaging
Transcript: ENSMUST00000184394
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 298 315 N/A INTRINSIC
low complexity region 322 335 N/A INTRINSIC
low complexity region 347 380 N/A INTRINSIC
low complexity region 382 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185115
AA Change: C22Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
AA Change: C22Y

DomainStartEndE-ValueType
ArfGap 7 124 2.4e-54 SMART
low complexity region 149 160 N/A INTRINSIC
PDB:2M0W|A 198 220 1e-6 PDB
low complexity region 320 337 N/A INTRINSIC
low complexity region 344 357 N/A INTRINSIC
low complexity region 369 402 N/A INTRINSIC
low complexity region 404 411 N/A INTRINSIC
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 a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A T 8: 111,043,787 I406F possibly damaging Het
Adgrb2 A G 4: 129,992,292 E75G probably damaging Het
Als2cr12 T G 1: 58,670,394 K201Q probably damaging Het
Angptl2 T C 2: 33,246,203 Y467H probably damaging Het
Arap1 G T 7: 101,400,605 probably null Het
Artn G A 4: 117,927,287 P25S probably damaging Het
Bicra G T 7: 15,989,188 Q135K probably benign Het
Clpx T C 9: 65,318,744 V367A probably damaging Het
Clstn3 C T 6: 124,458,031 W308* probably null Het
Cpb2 T A 14: 75,257,631 V67D probably damaging Het
Cyp2c38 A G 19: 39,460,670 Y80H probably damaging Het
Dbt A G 3: 116,533,383 D127G probably benign Het
Fhod1 G A 8: 105,330,423 A973V probably benign Het
Focad A T 4: 88,410,690 *1713C probably null Het
Gemin5 A T 11: 58,134,918 probably benign Het
Gpr22 C T 12: 31,708,710 probably benign Het
Ikbkap T A 4: 56,771,059 E961D probably benign Het
Kif23 T A 9: 61,919,900 T890S probably damaging Het
Kmt5b T A 19: 3,786,618 S52T possibly damaging Het
Lipo1 A T 19: 33,785,683 D53E probably damaging Het
Lrrc14b G A 13: 74,363,572 R130C probably damaging Het
Myt1 T A 2: 181,825,911 I1046K probably damaging Het
Napsa A T 7: 44,586,637 I367F probably damaging Het
Olfr1107 C T 2: 87,071,733 V134I probably benign Het
Olfr923 A T 9: 38,827,889 Y66F probably damaging Het
Rgcc T G 14: 79,300,745 S69R probably damaging Het
Rin3 T A 12: 102,369,048 I326N probably benign Het
Sipa1 C A 19: 5,660,978 M1I probably null Het
Sirpb1a T A 3: 15,410,501 M325L probably benign Het
Sult1a1 C A 7: 126,675,279 V71F possibly damaging Het
Tgds G T 14: 118,113,094 P349Q probably damaging Het
Tmem63c T A 12: 87,069,144 H186Q probably damaging Het
Trappc9 A G 15: 73,052,167 L242S probably damaging Het
Trip12 T A 1: 84,766,198 probably benign Het
Zfp451 T C 1: 33,777,331 probably null Het
Other mutations in Arfgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Arfgap1 APN 2 180972725 missense probably benign 0.01
IGL02118:Arfgap1 APN 2 180980444 missense possibly damaging 0.89
R1858:Arfgap1 UTSW 2 180974088 missense probably damaging 1.00
R2060:Arfgap1 UTSW 2 180972782 missense probably benign
R2509:Arfgap1 UTSW 2 180974053 splice site probably benign
R4423:Arfgap1 UTSW 2 180981076 missense probably benign 0.00
R4424:Arfgap1 UTSW 2 180981076 missense probably benign 0.00
R4425:Arfgap1 UTSW 2 180981076 missense probably benign 0.00
R4569:Arfgap1 UTSW 2 180976373 splice site probably benign
R5668:Arfgap1 UTSW 2 180974119 missense possibly damaging 0.81
R5834:Arfgap1 UTSW 2 180981162 missense probably benign 0.01
R5915:Arfgap1 UTSW 2 180978422 missense possibly damaging 0.88
R6819:Arfgap1 UTSW 2 180971685 critical splice donor site probably null
R7011:Arfgap1 UTSW 2 180972142 missense probably damaging 1.00
R7017:Arfgap1 UTSW 2 180976304 splice site probably null
R7069:Arfgap1 UTSW 2 180974120 missense probably benign 0.01
R7350:Arfgap1 UTSW 2 180971076 missense possibly damaging 0.51
Posted On2013-12-09