Incidental Mutation 'IGL02429:Asap1'
ID 293060
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 # IGL02429
Quality Score
Status
Chromosome 15
Chromosomal Location 63958706-64254768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64039589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 187 (M187K)
Ref Sequence ENSEMBL: ENSMUSP00000135643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023008] [ENSMUST00000110114] [ENSMUST00000110115] [ENSMUST00000175793] [ENSMUST00000175799] [ENSMUST00000176014] [ENSMUST00000177035] [ENSMUST00000177083] [ENSMUST00000177371] [ENSMUST00000176384] [ENSMUST00000177374]
AlphaFold Q9QWY8
Predicted Effect probably damaging
Transcript: ENSMUST00000023008
AA Change: M207K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000110114
AA Change: M207K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000110115
AA Change: M207K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000175793
AA Change: M207K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000175799
AA Change: M207K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000176014
AA Change: M207K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: M207K

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 unknown
Transcript: ENSMUST00000176358
AA Change: M121K
Predicted Effect probably damaging
Transcript: ENSMUST00000177035
AA Change: M207K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: M207K

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 damaging
Transcript: ENSMUST00000177083
AA Change: M187K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377
AA Change: M187K

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: ENSMUST00000177371
AA Change: M187K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: M187K

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 damaging
Transcript: ENSMUST00000176384
AA Change: M207K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: M207K

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: ENSMUST00000177374
AA Change: M207K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: M207K

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging 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
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
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 2015-04-16