Incidental Mutation 'IGL01306:Arfgap3'
ID 73434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arfgap3
Ensembl Gene ENSMUSG00000054277
Gene Name ADP-ribosylation factor GTPase activating protein 3
Synonyms 1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL01306
Quality Score
Status
Chromosome 15
Chromosomal Location 83183940-83234448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83197710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 349 (Y349H)
Ref Sequence ENSEMBL: ENSMUSP00000064893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067215] [ENSMUST00000226124]
AlphaFold Q9D8S3
Predicted Effect possibly damaging
Transcript: ENSMUST00000067215
AA Change: Y349H

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: Y349H

DomainStartEndE-ValueType
ArfGap 10 126 7.18e-44 SMART
Blast:ArfGap 160 200 2e-6 BLAST
low complexity region 220 237 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
low complexity region 459 466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226124
AA Change: Y349H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
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 (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Arfgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Arfgap3 APN 15 83,206,790 (GRCm39) missense probably benign 0.04
IGL01960:Arfgap3 APN 15 83,197,758 (GRCm39) missense probably benign 0.04
IGL03029:Arfgap3 APN 15 83,206,851 (GRCm39) missense probably damaging 1.00
IGL03036:Arfgap3 APN 15 83,191,127 (GRCm39) missense possibly damaging 0.91
IGL03328:Arfgap3 APN 15 83,227,282 (GRCm39) missense probably damaging 1.00
ANU23:Arfgap3 UTSW 15 83,197,710 (GRCm39) missense possibly damaging 0.78
R0103:Arfgap3 UTSW 15 83,206,922 (GRCm39) splice site probably benign
R0103:Arfgap3 UTSW 15 83,206,922 (GRCm39) splice site probably benign
R0125:Arfgap3 UTSW 15 83,227,340 (GRCm39) missense probably benign 0.01
R0243:Arfgap3 UTSW 15 83,214,714 (GRCm39) splice site probably benign
R0551:Arfgap3 UTSW 15 83,227,338 (GRCm39) missense probably damaging 1.00
R0557:Arfgap3 UTSW 15 83,187,386 (GRCm39) missense probably damaging 1.00
R0638:Arfgap3 UTSW 15 83,192,389 (GRCm39) splice site probably null
R1115:Arfgap3 UTSW 15 83,214,741 (GRCm39) missense probably benign 0.00
R1459:Arfgap3 UTSW 15 83,191,138 (GRCm39) missense probably benign 0.15
R1576:Arfgap3 UTSW 15 83,197,764 (GRCm39) missense possibly damaging 0.94
R1776:Arfgap3 UTSW 15 83,227,340 (GRCm39) missense probably benign 0.01
R1826:Arfgap3 UTSW 15 83,187,303 (GRCm39) critical splice donor site probably null
R2057:Arfgap3 UTSW 15 83,194,501 (GRCm39) missense probably benign
R2084:Arfgap3 UTSW 15 83,218,767 (GRCm39) missense probably damaging 0.96
R3407:Arfgap3 UTSW 15 83,206,808 (GRCm39) missense probably benign 0.00
R4072:Arfgap3 UTSW 15 83,187,330 (GRCm39) missense probably damaging 1.00
R4074:Arfgap3 UTSW 15 83,187,330 (GRCm39) missense probably damaging 1.00
R4206:Arfgap3 UTSW 15 83,206,869 (GRCm39) missense probably benign
R4449:Arfgap3 UTSW 15 83,218,759 (GRCm39) missense probably damaging 1.00
R5004:Arfgap3 UTSW 15 83,194,497 (GRCm39) missense possibly damaging 0.87
R5193:Arfgap3 UTSW 15 83,216,898 (GRCm39) missense probably benign 0.01
R5364:Arfgap3 UTSW 15 83,198,562 (GRCm39) missense probably damaging 1.00
R6142:Arfgap3 UTSW 15 83,234,328 (GRCm39) missense probably damaging 1.00
R6813:Arfgap3 UTSW 15 83,214,794 (GRCm39) missense probably benign 0.00
R7154:Arfgap3 UTSW 15 83,220,905 (GRCm39) missense probably damaging 1.00
R7422:Arfgap3 UTSW 15 83,191,150 (GRCm39) missense probably damaging 0.97
R7582:Arfgap3 UTSW 15 83,187,302 (GRCm39) missense possibly damaging 0.77
R7714:Arfgap3 UTSW 15 83,192,352 (GRCm39) missense probably benign 0.34
R8269:Arfgap3 UTSW 15 83,194,542 (GRCm39) missense probably benign 0.01
R9352:Arfgap3 UTSW 15 83,191,127 (GRCm39) missense possibly damaging 0.82
R9712:Arfgap3 UTSW 15 83,197,734 (GRCm39) missense probably benign 0.02
R9729:Arfgap3 UTSW 15 83,192,366 (GRCm39) missense probably damaging 1.00
Z1177:Arfgap3 UTSW 15 83,216,889 (GRCm39) nonsense probably null
Posted On 2013-10-07