Incidental Mutation 'R7017:Arfgap1'
ID 568432
Institutional Source Beutler Lab
Gene Symbol Arfgap1
Ensembl Gene ENSMUSG00000027575
Gene Name ADP-ribosylation factor GTPase activating protein 1
Synonyms ARF1 GAP
MMRRC Submission 045118-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R7017 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180609018-180624319 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 180618097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029092] [ENSMUST00000108859] [ENSMUST00000108860] [ENSMUST00000108861] [ENSMUST00000108862] [ENSMUST00000184394] [ENSMUST00000185115]
AlphaFold Q9EPJ9
Predicted Effect probably null
Transcript: ENSMUST00000029092
SMART Domains Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000108859
SMART Domains Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000108860
SMART Domains Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000108861
SMART Domains Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000108862
SMART Domains Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000184394
SMART Domains Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575

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 null
Transcript: ENSMUST00000185115
SMART Domains Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,926 (GRCm39) probably benign Het
Acot3 A T 12: 84,100,077 (GRCm39) probably benign Het
Add3 T A 19: 53,222,284 (GRCm39) V297E possibly damaging Het
Cacna1i T C 15: 80,264,671 (GRCm39) F1500L probably damaging Het
Cacna1s T C 1: 136,023,596 (GRCm39) I945T probably damaging Het
Ccdc180 T A 4: 45,940,934 (GRCm39) N1334K possibly damaging Het
Cd5l C A 3: 87,273,368 (GRCm39) Y112* probably null Het
Cracd GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GAGACAACGCGAGGCCGAGAGGCAGG 5: 77,004,795 (GRCm39) probably benign Het
Cyp2d40 A T 15: 82,644,234 (GRCm39) F297Y unknown Het
Ddx4 C T 13: 112,738,022 (GRCm39) V546I probably damaging Het
Dgkg T C 16: 22,391,463 (GRCm39) M332V probably benign Het
Dnah12 T C 14: 26,456,835 (GRCm39) I867T probably benign Het
Dnah2 T A 11: 69,382,373 (GRCm39) K1246* probably null Het
Drd2 G A 9: 49,312,129 (GRCm39) V161I probably benign Het
Dsp A G 13: 38,370,683 (GRCm39) D862G probably benign Het
Ephx4 T C 5: 107,553,980 (GRCm39) F10S probably damaging Het
Fabp9 C A 3: 10,259,756 (GRCm39) A76S possibly damaging Het
Fat4 G A 3: 38,945,692 (GRCm39) M1528I probably benign Het
Fbxl12 A G 9: 20,529,616 (GRCm39) S84P unknown Het
Fbxo40 T C 16: 36,790,732 (GRCm39) D126G probably damaging Het
Fpr1 C T 17: 18,097,654 (GRCm39) V112I probably benign Het
Frem2 T C 3: 53,427,023 (GRCm39) N2975S probably benign Het
Gask1a T C 9: 121,795,052 (GRCm39) probably null Het
Gm7945 T C 14: 41,105,610 (GRCm39) Y156C Het
Gnpat T C 8: 125,590,014 (GRCm39) V13A probably benign Het
Gpx5 G A 13: 21,475,561 (GRCm39) P55L probably damaging Het
Hbp1 A G 12: 31,993,852 (GRCm39) S59P probably damaging Het
Ighv1-36 T A 12: 114,843,533 (GRCm39) D109V probably damaging Het
Iqcf5 T A 9: 106,392,863 (GRCm39) I40N possibly damaging Het
Kcnma1 T G 14: 23,544,711 (GRCm39) I484L possibly damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Kif3b T A 2: 153,171,644 (GRCm39) S707R possibly damaging Het
Lilra6 G T 7: 3,911,707 (GRCm39) T317N possibly damaging Het
Lrrc15 C T 16: 30,091,780 (GRCm39) E520K probably benign Het
Lrrc34 C T 3: 30,699,465 (GRCm39) probably null Het
Lvrn A G 18: 46,983,745 (GRCm39) T163A probably benign Het
Met T A 6: 17,491,286 (GRCm39) L16* probably null Het
Mpzl2 G T 9: 44,958,587 (GRCm39) D108Y probably benign Het
Mrgprb2 T A 7: 48,202,585 (GRCm39) I47F probably benign Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Mybphl T A 3: 108,282,154 (GRCm39) V128E probably damaging Het
Nckap5 A T 1: 126,030,398 (GRCm39) D231E probably damaging Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Orm1 T A 4: 63,263,448 (GRCm39) I87K probably benign Het
Pdgfrb C T 18: 61,214,076 (GRCm39) P954S probably benign Het
Pdzd8 G T 19: 59,333,784 (GRCm39) S79* probably null Het
Pdzd9 T A 7: 120,262,225 (GRCm39) H79L probably benign Het
Plcg1 A T 2: 160,600,017 (GRCm39) I926F probably damaging Het
Plec A T 15: 76,057,741 (GRCm39) F4078L probably damaging Het
Plek G A 11: 17,002,220 (GRCm39) probably benign Het
Pogz T C 3: 94,761,335 (GRCm39) I25T probably damaging Het
Ppfia3 A T 7: 45,008,224 (GRCm39) D215E probably benign Het
Psg22 C A 7: 18,458,366 (GRCm39) S352R probably benign Het
Ptchd4 A G 17: 42,813,626 (GRCm39) Y509C probably damaging Het
Ralgapb C A 2: 158,290,257 (GRCm39) N389K probably benign Het
Rdh1 A G 10: 127,598,906 (GRCm39) D129G probably benign Het
Rimbp3 A G 16: 17,027,610 (GRCm39) T345A probably benign Het
S100a14 T C 3: 90,434,602 (GRCm39) probably null Het
Scamp1 T A 13: 94,361,423 (GRCm39) R152S probably damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Srf T C 17: 46,861,830 (GRCm39) T383A probably benign Het
St6galnac5 T C 3: 152,552,040 (GRCm39) M176V probably damaging Het
St8sia1 C A 6: 142,813,632 (GRCm39) V177F probably damaging Het
Syt12 C T 19: 4,510,895 (GRCm39) probably null Het
Tanc2 A G 11: 105,813,934 (GRCm39) I1793V probably benign Het
Tas2r123 A G 6: 132,824,513 (GRCm39) I137V probably benign Het
Tenm2 T A 11: 36,062,236 (GRCm39) Y543F probably damaging Het
Tent5b T C 4: 133,213,545 (GRCm39) S139P possibly damaging Het
Tgfbr1 T C 4: 47,410,728 (GRCm39) I488T probably damaging Het
Tgm1 T A 14: 55,942,398 (GRCm39) Y651F possibly damaging Het
Thbs3 A T 3: 89,131,722 (GRCm39) D698V probably damaging Het
Tpra1 T A 6: 88,885,294 (GRCm39) I82N probably damaging Het
Ubr4 T A 4: 139,120,401 (GRCm39) D275E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wwp1 T C 4: 19,623,124 (GRCm39) Y787C probably damaging Het
Znfx1 T C 2: 166,890,454 (GRCm39) S677G probably damaging Het
Other mutations in Arfgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Arfgap1 APN 2 180,614,518 (GRCm39) missense probably benign 0.01
IGL01521:Arfgap1 APN 2 180,613,371 (GRCm39) missense probably damaging 1.00
IGL02118:Arfgap1 APN 2 180,622,237 (GRCm39) missense possibly damaging 0.89
R1858:Arfgap1 UTSW 2 180,615,881 (GRCm39) missense probably damaging 1.00
R2060:Arfgap1 UTSW 2 180,614,575 (GRCm39) missense probably benign
R2509:Arfgap1 UTSW 2 180,615,846 (GRCm39) splice site probably benign
R4423:Arfgap1 UTSW 2 180,622,869 (GRCm39) missense probably benign 0.00
R4424:Arfgap1 UTSW 2 180,622,869 (GRCm39) missense probably benign 0.00
R4425:Arfgap1 UTSW 2 180,622,869 (GRCm39) missense probably benign 0.00
R4569:Arfgap1 UTSW 2 180,618,166 (GRCm39) splice site probably benign
R5668:Arfgap1 UTSW 2 180,615,912 (GRCm39) missense possibly damaging 0.81
R5834:Arfgap1 UTSW 2 180,622,955 (GRCm39) missense probably benign 0.01
R5915:Arfgap1 UTSW 2 180,620,215 (GRCm39) missense possibly damaging 0.88
R6819:Arfgap1 UTSW 2 180,613,478 (GRCm39) critical splice donor site probably null
R7011:Arfgap1 UTSW 2 180,613,935 (GRCm39) missense probably damaging 1.00
R7069:Arfgap1 UTSW 2 180,615,913 (GRCm39) missense probably benign 0.01
R7350:Arfgap1 UTSW 2 180,612,869 (GRCm39) missense possibly damaging 0.51
R8104:Arfgap1 UTSW 2 180,621,022 (GRCm39) critical splice donor site probably null
R9110:Arfgap1 UTSW 2 180,615,330 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GAGTTCCTCCTTTTGTGCAGAAC -3'
(R):5'- ACCACCTTCGATATAGTAAGGGC -3'

Sequencing Primer
(F):5'- CCTTTTGTGCAGAACTGTGC -3'
(R):5'- CCTTCGATATAGTAAGGGCTCCTAG -3'
Posted On 2019-07-19