Incidental Mutation 'R4436:Asap1'
ID 329548
Institutional Source Beutler Lab
Gene Symbol Asap1
Ensembl Gene ENSMUSG00000022377
Gene Name ArfGAP with SH3 domain, ankyrin repeat and PH domain1
Synonyms Ddef1
MMRRC Submission 041702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4436 (G1)
Quality Score 172
Status Validated
Chromosome 15
Chromosomal Location 63958706-64254768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 64221692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 15 (D15A)
Ref Sequence ENSEMBL: ENSMUSP00000134825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023008] [ENSMUST00000110114] [ENSMUST00000110115] [ENSMUST00000175793] [ENSMUST00000175799] [ENSMUST00000176014] [ENSMUST00000177374] [ENSMUST00000176384] [ENSMUST00000177035]
AlphaFold Q9QWY8
Predicted Effect unknown
Transcript: ENSMUST00000023008
AA Change: D15A
SMART Domains Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: D15A

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 unknown
Transcript: ENSMUST00000110114
AA Change: D15A
SMART Domains Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: D15A

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
AA Change: D15A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: D15A

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
AA Change: D15A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: D15A

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 unknown
Transcript: ENSMUST00000175799
AA Change: D15A
SMART Domains Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: D15A

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 unknown
Transcript: ENSMUST00000176014
AA Change: D15A
SMART Domains Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: D15A

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 noncoding transcript
Transcript: ENSMUST00000176821
Predicted Effect probably benign
Transcript: ENSMUST00000177374
AA Change: D15A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: D15A

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: ENSMUST00000176384
AA Change: D15A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: D15A

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 unknown
Transcript: ENSMUST00000177035
AA Change: D15A
SMART Domains Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: D15A

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
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 96% (54/56)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aff3 T C 1: 38,248,768 (GRCm39) I779V possibly damaging Het
Ascc2 A G 11: 4,606,305 (GRCm39) D193G probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Ccdc168 T C 1: 44,095,276 (GRCm39) I1941V probably benign Het
Ccdc85a T C 11: 28,526,457 (GRCm39) T384A probably benign Het
Cd86 T C 16: 36,441,194 (GRCm39) N91S probably benign Het
Cdk17 T A 10: 93,047,758 (GRCm39) probably null Het
Cemip T C 7: 83,636,637 (GRCm39) D332G probably null Het
Ces2f G A 8: 105,679,788 (GRCm39) R427H probably benign Het
Clec4a2 G A 6: 123,105,013 (GRCm39) probably null Het
Coa8 T A 12: 111,717,642 (GRCm39) D167E probably benign Het
Coq9 T C 8: 95,579,743 (GRCm39) F198L probably benign Het
Ddx24 C A 12: 103,390,233 (GRCm39) A253S probably damaging Het
Esyt3 A T 9: 99,240,078 (GRCm39) probably benign Het
Fat2 C A 11: 55,187,024 (GRCm39) G1274V probably damaging Het
Ggn A T 7: 28,870,976 (GRCm39) T132S probably damaging Het
Gm11568 T A 11: 99,749,421 (GRCm39) C209S unknown Het
Gm6931 T A 16: 49,245,225 (GRCm39) noncoding transcript Het
Gpr20 C T 15: 73,567,649 (GRCm39) V247I probably benign Het
Grm8 A T 6: 27,761,237 (GRCm39) V329E possibly damaging Het
Gtf2ird2 T C 5: 134,223,808 (GRCm39) L114P possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep3 C T 4: 119,953,120 (GRCm39) P479S probably benign Het
Igkv6-20 A G 6: 70,313,104 (GRCm39) V23A probably damaging Het
Ikbip T A 10: 90,937,751 (GRCm39) N141K probably damaging Het
Irag1 T C 7: 110,476,124 (GRCm39) E815G probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Ltn1 A T 16: 87,202,502 (GRCm39) C1050S probably benign Het
Macf1 T C 4: 123,421,135 (GRCm39) I40V probably benign Het
Or2h2b-ps1 A G 17: 37,480,727 (GRCm39) F271L probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pi4ka T C 16: 17,100,246 (GRCm39) M1885V probably damaging Het
Plek A G 11: 16,942,972 (GRCm39) Y107H probably damaging Het
Ppp1r15a C T 7: 45,174,203 (GRCm39) V202M probably damaging Het
Ppp1r3e C A 14: 55,114,007 (GRCm39) A222S probably benign Het
Rac2 G T 15: 78,454,943 (GRCm39) Y32* probably null Het
Sdf4 T G 4: 156,093,404 (GRCm39) probably null Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Spic T A 10: 88,512,817 (GRCm39) R111S probably benign Het
Ssh3 A G 19: 4,315,394 (GRCm39) F315L probably damaging Het
Ttn T C 2: 76,595,253 (GRCm39) K11972R probably damaging Het
Tubd1 C T 11: 86,439,745 (GRCm39) S30F probably benign Het
Vmn1r17 G C 6: 57,337,719 (GRCm39) I166M possibly damaging Het
Vmn2r94 T C 17: 18,478,645 (GRCm39) Y34C probably damaging Het
Xpo7 G A 14: 70,906,869 (GRCm39) T945M probably damaging Het
Zfp316 C A 5: 143,239,803 (GRCm39) A739S probably damaging Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGAATCTGATAGAGACCGGTG -3'
(R):5'- CCAGAGCACTCCTAATGAGG -3'

Sequencing Primer
(F):5'- CTGGATTCCAAGAACCTATATGGTGG -3'
(R):5'- ACTCCTAATGAGGGCTTGGC -3'
Posted On 2015-07-21