Incidental Mutation 'IGL01518:Arfgap1'
ID 89371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arfgap1
Ensembl Gene ENSMUSG00000027575
Gene Name ADP-ribosylation factor GTPase activating protein 1
Synonyms ARF1 GAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL01518
Quality Score
Status
Chromosome 2
Chromosomal Location 180609018-180624319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180614518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 125 (S125T)
Ref Sequence ENSEMBL: ENSMUSP00000138843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029092] [ENSMUST00000108859] [ENSMUST00000108860] [ENSMUST00000108861] [ENSMUST00000108862] [ENSMUST00000184394] [ENSMUST00000185115]
AlphaFold Q9EPJ9
Predicted Effect probably benign
Transcript: ENSMUST00000029092
AA Change: S125T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
AA Change: S125T

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 benign
Transcript: ENSMUST00000108859
AA Change: S125T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
AA Change: S125T

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 benign
Transcript: ENSMUST00000108860
AA Change: S125T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
AA Change: S125T

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 benign
Transcript: ENSMUST00000108861
AA Change: S125T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
AA Change: S125T

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 benign
Transcript: ENSMUST00000108862
AA Change: S125T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
AA Change: S125T

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 probably benign
Transcript: ENSMUST00000184394
AA Change: S125T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
AA Change: S125T

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 benign
Transcript: ENSMUST00000185115
AA Change: S125T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
AA Change: S125T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145629
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 65,347,660 (GRCm39) V16G unknown Het
4933427I04Rik A T 4: 123,754,494 (GRCm39) E136V probably benign Het
Aadac A G 3: 59,943,320 (GRCm39) D75G probably damaging Het
Atxn2 G T 5: 121,949,042 (GRCm39) A813S probably damaging Het
Cadps C A 14: 12,522,352 (GRCm38) S604I probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col4a4 T A 1: 82,433,480 (GRCm39) M1488L unknown Het
Fndc3c1 T C X: 105,475,029 (GRCm39) N941S probably damaging Het
Fryl T C 5: 73,244,305 (GRCm39) Y1172C possibly damaging Het
Gm1527 T C 3: 28,949,737 (GRCm39) probably benign Het
Hsf2 T C 10: 57,388,230 (GRCm39) L458P probably damaging Het
Il2 T C 3: 37,177,156 (GRCm39) T127A possibly damaging Het
Inpp5e A G 2: 26,287,946 (GRCm39) Y617H probably damaging Het
Isoc2b G A 7: 4,853,763 (GRCm39) S137F probably damaging Het
Map2 C T 1: 66,464,490 (GRCm39) P241S probably damaging Het
Mfsd6 C A 1: 52,748,481 (GRCm39) R128L probably damaging Het
Mrnip A G 11: 50,088,462 (GRCm39) T153A probably damaging Het
Or4x6 A G 2: 89,949,315 (GRCm39) F209S possibly damaging Het
Or8d1 A T 9: 38,767,095 (GRCm39) M246L probably benign Het
Pi4ka T C 16: 17,098,599 (GRCm39) N2022S probably benign Het
Scrt2 C A 2: 151,935,560 (GRCm39) R238S probably damaging Het
St3gal6 T A 16: 58,305,138 (GRCm39) D108V probably benign Het
Tmem132b C T 5: 125,855,855 (GRCm39) T529M probably damaging Het
Trappc11 T C 8: 47,954,904 (GRCm39) probably null Het
Tspyl1 T A 10: 34,159,195 (GRCm39) S307T possibly damaging Het
Ush2a A G 1: 188,131,982 (GRCm39) S735G probably benign Het
Wnk2 T C 13: 49,221,668 (GRCm39) M1186V possibly damaging Het
Other mutations in Arfgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7017:Arfgap1 UTSW 2 180,618,097 (GRCm39) splice site probably null
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
Posted On 2013-12-03