Incidental Mutation 'IGL03153:Asap1'
ID 411150
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03153
Quality Score
Status
Chromosome 15
Chromosomal Location 63958706-64254768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64032123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 237 (T237M)
Ref Sequence ENSEMBL: ENSMUSP00000134877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023008] [ENSMUST00000110114] [ENSMUST00000110115] [ENSMUST00000175793] [ENSMUST00000175799] [ENSMUST00000176014] [ENSMUST00000177374] [ENSMUST00000177371] [ENSMUST00000176384] [ENSMUST00000177083] [ENSMUST00000177035]
AlphaFold Q9QWY8
Predicted Effect possibly damaging
Transcript: ENSMUST00000023008
AA Change: T257M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000110114
AA Change: T257M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000110115
AA Change: T257M

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000175793
AA Change: T257M

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000175799
AA Change: T257M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000176014
AA Change: T257M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000177374
AA Change: T257M

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: T257M

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 possibly damaging
Transcript: ENSMUST00000177371
AA Change: T237M

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: T237M

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 possibly damaging
Transcript: ENSMUST00000176384
AA Change: T257M

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: T257M

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 probably damaging
Transcript: ENSMUST00000177083
AA Change: T237M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377
AA Change: T237M

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 damaging
Transcript: ENSMUST00000177035
AA Change: T257M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: T257M

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 unknown
Transcript: ENSMUST00000176358
AA Change: T171M
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
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
A4554:Asap1 UTSW 15 63,996,560 (GRCm39) splice site probably benign
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
Posted On 2016-08-02