Incidental Mutation 'R1115:Arfgap3'
ID 97204
Institutional Source Beutler Lab
Gene Symbol Arfgap3
Ensembl Gene ENSMUSG00000054277
Gene Name ADP-ribosylation factor GTPase activating protein 3
Synonyms 1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik
MMRRC Submission 039188-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R1115 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83183940-83234448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83214741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 182 (T182A)
Ref Sequence ENSEMBL: ENSMUSP00000154712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067215] [ENSMUST00000226124]
AlphaFold Q9D8S3
Predicted Effect probably benign
Transcript: ENSMUST00000067215
AA Change: T182A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: T182A

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: T182A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227511
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C A 11: 100,370,081 (GRCm39) V994F probably damaging Het
Bcl2l14 T C 6: 134,409,102 (GRCm39) probably benign Het
Cabin1 T C 10: 75,553,511 (GRCm39) M1183V possibly damaging Het
Ccr7 A T 11: 99,036,103 (GRCm39) I273K possibly damaging Het
Cd40 A G 2: 164,912,681 (GRCm39) M211V possibly damaging Het
Coro2b T G 9: 62,338,609 (GRCm39) E208A probably damaging Het
Dennd5a A C 7: 109,517,968 (GRCm39) M556R probably damaging Het
Efcab2 A T 1: 178,265,062 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,787,114 (GRCm39) probably benign Het
Fbxw8 A C 5: 118,215,636 (GRCm39) probably benign Het
Fhip1a T C 3: 85,629,802 (GRCm39) E263G probably benign Het
Frem1 T C 4: 82,939,007 (GRCm39) D25G probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift52 A G 2: 162,871,702 (GRCm39) K178R probably benign Het
Kit T C 5: 75,810,192 (GRCm39) probably benign Het
Map1a T C 2: 121,137,859 (GRCm39) probably null Het
Mxra7 G T 11: 116,701,696 (GRCm39) probably benign Het
Myt1 C A 2: 181,453,024 (GRCm39) S7* probably null Het
Nphs1 C T 7: 30,180,803 (GRCm39) probably benign Het
Or10h28 C T 17: 33,487,940 (GRCm39) R81* probably null Het
Or1l8 C A 2: 36,817,514 (GRCm39) G204V possibly damaging Het
Osgin2 A T 4: 15,998,085 (GRCm39) D512E possibly damaging Het
Pde4b T A 4: 102,399,352 (GRCm39) probably benign Het
Rasef G T 4: 73,666,841 (GRCm39) T146K possibly damaging Het
Ren1 T A 1: 133,284,256 (GRCm39) V207D probably damaging Het
S100a8 A G 3: 90,577,180 (GRCm39) D59G probably damaging Het
Sdcbp G A 4: 6,377,143 (GRCm39) probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slamf7 A T 1: 171,466,751 (GRCm39) D151E probably benign Het
Slco1b2 A G 6: 141,628,980 (GRCm39) M561V probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stard9 T C 2: 120,523,331 (GRCm39) I662T probably benign Het
Vwf T A 6: 125,632,028 (GRCm39) V20D unknown Het
Znhit6 G T 3: 145,300,440 (GRCm39) probably null Het
Other mutations in Arfgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Arfgap3 APN 15 83,206,790 (GRCm39) missense probably benign 0.04
IGL01306:Arfgap3 APN 15 83,197,710 (GRCm39) missense possibly damaging 0.78
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
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
Predicted Primers PCR Primer
(F):5'- CCACACTTCGGTACTAGATCATTGAAGC -3'
(R):5'- GAGGCCCTGCACTGCTAACATC -3'

Sequencing Primer
(F):5'- tgtgtagaccagcctgtcc -3'
(R):5'- GCACTGCTAACATCCTCCC -3'
Posted On 2014-01-05