Incidental Mutation 'A4554:Asap1'
ID 107
Institutional Source Beutler Lab
Gene Symbol Asap1
Ensembl Gene ENSMUSG00000022377
Gene Name ArfGAP with SH3 domain, ankyrin repeat and PH domain1
Synonyms Ddef1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # A4554 of strain gemini
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 63958706-64254768 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 63996560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023008] [ENSMUST00000110114] [ENSMUST00000110115] [ENSMUST00000175793] [ENSMUST00000175799] [ENSMUST00000176014] [ENSMUST00000177374] [ENSMUST00000177035] [ENSMUST00000177371] [ENSMUST00000177083] [ENSMUST00000176384]
AlphaFold Q9QWY8
Predicted Effect probably benign
Transcript: ENSMUST00000023008
SMART Domains Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 340 433 4.12e-15 SMART
ArfGap 454 577 2.18e-34 SMART
ANK 615 647 1.17e-1 SMART
ANK 651 680 3.46e-4 SMART
low complexity region 727 738 N/A INTRINSIC
low complexity region 792 803 N/A INTRINSIC
low complexity region 814 847 N/A INTRINSIC
low complexity region 856 865 N/A INTRINSIC
low complexity region 892 903 N/A INTRINSIC
low complexity region 971 984 N/A INTRINSIC
low complexity region 1065 1077 N/A INTRINSIC
SH3 1088 1146 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110114
SMART Domains Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 340 433 4.12e-15 SMART
ArfGap 454 577 2.18e-34 SMART
ANK 615 647 1.17e-1 SMART
ANK 651 680 3.46e-4 SMART
low complexity region 727 738 N/A INTRINSIC
low complexity region 792 803 N/A INTRINSIC
low complexity region 835 846 N/A INTRINSIC
low complexity region 914 927 N/A INTRINSIC
low complexity region 1008 1020 N/A INTRINSIC
SH3 1031 1089 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110115
SMART Domains Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 325 418 4.12e-15 SMART
ArfGap 439 562 2.18e-34 SMART
ANK 600 632 1.17e-1 SMART
ANK 636 665 3.46e-4 SMART
low complexity region 712 723 N/A INTRINSIC
low complexity region 777 788 N/A INTRINSIC
low complexity region 799 832 N/A INTRINSIC
low complexity region 841 850 N/A INTRINSIC
low complexity region 877 888 N/A INTRINSIC
low complexity region 956 969 N/A INTRINSIC
low complexity region 1050 1062 N/A INTRINSIC
SH3 1073 1131 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175793
SMART Domains Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 328 421 4.12e-15 SMART
ArfGap 442 565 2.18e-34 SMART
ANK 603 635 1.17e-1 SMART
ANK 639 668 3.46e-4 SMART
low complexity region 715 726 N/A INTRINSIC
low complexity region 780 791 N/A INTRINSIC
low complexity region 802 835 N/A INTRINSIC
low complexity region 844 853 N/A INTRINSIC
low complexity region 880 891 N/A INTRINSIC
low complexity region 959 972 N/A INTRINSIC
low complexity region 1053 1065 N/A INTRINSIC
SH3 1076 1134 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175799
SMART Domains Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 337 430 4.12e-15 SMART
ArfGap 451 574 2.18e-34 SMART
ANK 612 644 1.17e-1 SMART
ANK 648 677 3.46e-4 SMART
low complexity region 724 735 N/A INTRINSIC
low complexity region 789 800 N/A INTRINSIC
low complexity region 832 843 N/A INTRINSIC
low complexity region 911 924 N/A INTRINSIC
low complexity region 1005 1017 N/A INTRINSIC
SH3 1028 1086 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176014
SMART Domains Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 337 430 4.12e-15 SMART
ArfGap 451 574 2.18e-34 SMART
ANK 612 644 1.17e-1 SMART
ANK 648 677 3.46e-4 SMART
low complexity region 724 735 N/A INTRINSIC
low complexity region 789 800 N/A INTRINSIC
low complexity region 811 844 N/A INTRINSIC
low complexity region 853 862 N/A INTRINSIC
low complexity region 889 900 N/A INTRINSIC
low complexity region 968 981 N/A INTRINSIC
low complexity region 1062 1074 N/A INTRINSIC
SH3 1085 1143 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177374
SMART Domains Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:BAR 18 267 1.8e-11 PFAM
Pfam:BAR_3 52 286 1.2e-29 PFAM
low complexity region 310 328 N/A INTRINSIC
PH 340 433 4.12e-15 SMART
ArfGap 454 577 2.18e-34 SMART
ANK 615 647 1.17e-1 SMART
ANK 651 680 3.46e-4 SMART
low complexity region 727 738 N/A INTRINSIC
low complexity region 792 803 N/A INTRINSIC
low complexity region 814 847 N/A INTRINSIC
low complexity region 856 865 N/A INTRINSIC
low complexity region 892 903 N/A INTRINSIC
low complexity region 971 984 N/A INTRINSIC
low complexity region 1065 1077 N/A INTRINSIC
SH3 1088 1146 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177035
SMART Domains Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
PH 325 418 4.12e-15 SMART
ArfGap 439 562 2.18e-34 SMART
ANK 600 632 1.17e-1 SMART
ANK 636 665 3.46e-4 SMART
low complexity region 712 723 N/A INTRINSIC
low complexity region 777 788 N/A INTRINSIC
low complexity region 820 831 N/A INTRINSIC
low complexity region 899 912 N/A INTRINSIC
low complexity region 993 1005 N/A INTRINSIC
SH3 1016 1074 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177371
SMART Domains Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 102 116 N/A INTRINSIC
low complexity region 127 144 N/A INTRINSIC
PH 317 410 4.12e-15 SMART
ArfGap 431 554 2.18e-34 SMART
ANK 592 624 1.17e-1 SMART
ANK 628 657 3.46e-4 SMART
low complexity region 704 715 N/A INTRINSIC
low complexity region 769 780 N/A INTRINSIC
low complexity region 791 824 N/A INTRINSIC
low complexity region 833 842 N/A INTRINSIC
low complexity region 869 880 N/A INTRINSIC
low complexity region 948 961 N/A INTRINSIC
low complexity region 1042 1054 N/A INTRINSIC
SH3 1065 1123 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177083
SMART Domains Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 102 116 N/A INTRINSIC
low complexity region 127 144 N/A INTRINSIC
PH 305 398 4.12e-15 SMART
ArfGap 419 542 2.18e-34 SMART
ANK 580 612 1.17e-1 SMART
ANK 616 645 3.46e-4 SMART
low complexity region 692 703 N/A INTRINSIC
low complexity region 757 768 N/A INTRINSIC
low complexity region 779 812 N/A INTRINSIC
low complexity region 821 830 N/A INTRINSIC
low complexity region 857 868 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
low complexity region 1030 1042 N/A INTRINSIC
SH3 1053 1111 3.29e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176384
SMART Domains Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
low complexity region 310 328 N/A INTRINSIC
PH 340 433 4.12e-15 SMART
ArfGap 454 577 2.18e-34 SMART
ANK 615 647 1.17e-1 SMART
ANK 651 680 3.46e-4 SMART
low complexity region 727 738 N/A INTRINSIC
low complexity region 792 803 N/A INTRINSIC
low complexity region 835 846 N/A INTRINSIC
low complexity region 914 927 N/A INTRINSIC
low complexity region 1008 1020 N/A INTRINSIC
SH3 1031 1089 3.29e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176427
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 63.0%
Validation Efficiency 84% (92/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb5 A T 2: 154,069,100 (GRCm39) Y139F possibly damaging Homo
Chd2 A C 7: 73,130,716 (GRCm39) V782G probably benign Homo
Chst4 G T 8: 110,756,520 (GRCm39) Q448K probably benign Homo
Dido1 T C 2: 180,317,164 (GRCm39) K8E probably damaging Homo
Evpl A G 11: 116,111,660 (GRCm39) L2010P probably damaging Homo
Fgl2 A G 5: 21,577,776 (GRCm39) E21G probably benign Homo
Greb1l A T 18: 10,532,862 (GRCm39) M919L possibly damaging Homo
Kel T A 6: 41,674,353 (GRCm39) D359V possibly damaging Homo
Lmtk2 A G 5: 144,103,135 (GRCm39) D298G possibly damaging Homo
Masp1 A T 16: 23,273,690 (GRCm39) probably null Homo
Mrgprb8 A T 7: 48,039,156 (GRCm39) I276F probably damaging Homo
Nde1 T C 16: 14,006,274 (GRCm39) probably benign Homo
Rbck1 G T 2: 152,161,092 (GRCm39) N385K probably damaging Homo
Senp6 G T 9: 80,055,740 (GRCm39) probably benign Het
Tm4sf4 T A 3: 57,345,188 (GRCm39) probably null Homo
Ubn2 A T 6: 38,461,045 (GRCm39) H488L probably damaging Homo
Vmn2r120 A G 17: 57,832,715 (GRCm39) F155L probably benign Homo
Vmn2r65 T A 7: 84,595,791 (GRCm39) T298S probably damaging Homo
Other mutations in Asap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Asap1 APN 15 63,991,803 (GRCm39) splice site probably benign
IGL00473:Asap1 APN 15 64,045,064 (GRCm39) splice site probably benign
IGL00519:Asap1 APN 15 63,982,791 (GRCm39) missense probably damaging 1.00
IGL01304:Asap1 APN 15 64,184,298 (GRCm39) missense probably damaging 1.00
IGL01510:Asap1 APN 15 64,030,777 (GRCm39) missense probably damaging 1.00
IGL02208:Asap1 APN 15 63,993,882 (GRCm39) missense probably damaging 1.00
IGL02338:Asap1 APN 15 63,995,519 (GRCm39) critical splice donor site probably null
IGL02429:Asap1 APN 15 64,039,589 (GRCm39) missense probably damaging 1.00
IGL02565:Asap1 APN 15 64,001,014 (GRCm39) splice site probably benign
IGL02644:Asap1 APN 15 63,982,911 (GRCm39) missense probably damaging 1.00
IGL02684:Asap1 APN 15 63,966,018 (GRCm39) missense probably benign
IGL02707:Asap1 APN 15 64,001,123 (GRCm39) missense probably damaging 1.00
IGL03052:Asap1 APN 15 64,025,683 (GRCm39) splice site probably benign
IGL03153:Asap1 APN 15 64,032,123 (GRCm39) missense probably damaging 1.00
PIT4378001:Asap1 UTSW 15 64,007,697 (GRCm39) missense probably damaging 0.99
R0081:Asap1 UTSW 15 63,971,413 (GRCm39) missense probably damaging 1.00
R0555:Asap1 UTSW 15 63,966,213 (GRCm39) missense probably damaging 1.00
R1414:Asap1 UTSW 15 64,030,733 (GRCm39) missense possibly damaging 0.92
R1437:Asap1 UTSW 15 63,991,956 (GRCm39) missense probably damaging 0.96
R1474:Asap1 UTSW 15 63,991,869 (GRCm39) missense probably benign 0.01
R1489:Asap1 UTSW 15 64,044,579 (GRCm39) missense probably damaging 1.00
R1553:Asap1 UTSW 15 64,024,701 (GRCm39) missense probably benign 0.31
R1603:Asap1 UTSW 15 64,001,106 (GRCm39) missense probably damaging 1.00
R1636:Asap1 UTSW 15 63,995,761 (GRCm39) missense probably damaging 1.00
R1645:Asap1 UTSW 15 63,961,324 (GRCm39) missense probably damaging 0.99
R1861:Asap1 UTSW 15 64,007,647 (GRCm39) splice site probably benign
R2136:Asap1 UTSW 15 63,982,808 (GRCm39) missense probably damaging 1.00
R2351:Asap1 UTSW 15 64,007,653 (GRCm39) critical splice donor site probably null
R4436:Asap1 UTSW 15 64,221,692 (GRCm39) missense probably benign 0.03
R4618:Asap1 UTSW 15 64,024,744 (GRCm39) missense probably damaging 1.00
R4868:Asap1 UTSW 15 63,966,030 (GRCm39) missense probably benign
R5077:Asap1 UTSW 15 63,999,272 (GRCm39) missense probably damaging 1.00
R5333:Asap1 UTSW 15 63,999,263 (GRCm39) missense possibly damaging 0.79
R5391:Asap1 UTSW 15 63,965,901 (GRCm39) missense possibly damaging 0.57
R5493:Asap1 UTSW 15 64,002,000 (GRCm39) missense possibly damaging 0.85
R5665:Asap1 UTSW 15 64,184,302 (GRCm39) missense probably damaging 1.00
R5756:Asap1 UTSW 15 64,039,556 (GRCm39) missense probably damaging 1.00
R5790:Asap1 UTSW 15 63,966,114 (GRCm39) missense probably damaging 1.00
R6139:Asap1 UTSW 15 64,038,388 (GRCm39) missense possibly damaging 0.87
R6194:Asap1 UTSW 15 64,001,058 (GRCm39) missense probably damaging 1.00
R6361:Asap1 UTSW 15 64,221,672 (GRCm39) splice site probably null
R6751:Asap1 UTSW 15 63,966,261 (GRCm39) missense possibly damaging 0.86
R7143:Asap1 UTSW 15 64,063,377 (GRCm39) missense probably damaging 1.00
R7218:Asap1 UTSW 15 64,002,099 (GRCm39) missense probably damaging 1.00
R7225:Asap1 UTSW 15 64,002,099 (GRCm39) missense probably damaging 1.00
R7305:Asap1 UTSW 15 64,002,099 (GRCm39) missense probably damaging 1.00
R7310:Asap1 UTSW 15 63,971,379 (GRCm39) critical splice donor site probably null
R7439:Asap1 UTSW 15 64,002,105 (GRCm39) missense probably damaging 1.00
R7441:Asap1 UTSW 15 64,002,105 (GRCm39) missense probably damaging 1.00
R7488:Asap1 UTSW 15 63,991,974 (GRCm39) missense probably benign 0.29
R7597:Asap1 UTSW 15 64,184,304 (GRCm39) missense probably benign 0.37
R7708:Asap1 UTSW 15 64,024,721 (GRCm39) missense probably damaging 1.00
R7871:Asap1 UTSW 15 63,963,925 (GRCm39) missense probably damaging 1.00
R7990:Asap1 UTSW 15 64,044,586 (GRCm39) splice site probably null
R8163:Asap1 UTSW 15 63,963,899 (GRCm39) missense probably damaging 1.00
R8171:Asap1 UTSW 15 63,982,815 (GRCm39) missense probably damaging 1.00
R8416:Asap1 UTSW 15 64,002,072 (GRCm39) missense possibly damaging 0.83
R8778:Asap1 UTSW 15 63,999,258 (GRCm39) missense probably benign 0.02
R9462:Asap1 UTSW 15 64,038,328 (GRCm39) missense probably damaging 0.98
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at base pair 63956273 in the Genbank genomic region NC_000081 for the Asap1 gene on chromosome 15 (GTAATGACTC  ->GTAATGGCTC). The mutation is located within intron 18, seven nucleotides from the previous exon 18 (from the ATG exon). The Asap1 transcript contains 31 total exons. Three transcripts of the Asap1 gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Asap1 gene encodes an 1147 amino acid protein that functions as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types. ASAP1 posseses phosphatidylinositol 4,5-biphosphate (PIP2)-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5, and a lesser activity towards ARF6. ASAP1 coordinates membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. The protein contains two ANK repeats, an ARF-GAP domain, a pleckstrin homology (PH) domain and an SH3 domain (Uniprot Q9QWY8).
Posted On 2010-03-16