Incidental Mutation 'R6208:Asap3'
ID 503252
Institutional Source Beutler Lab
Gene Symbol Asap3
Ensembl Gene ENSMUSG00000036995
Gene Name ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
Synonyms Ddefl1, UPLC1, 9430088F20Rik
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135933676-135972527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135968508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 687 (M687V)
Ref Sequence ENSEMBL: ENSMUSP00000041899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047526]
AlphaFold Q5U464
Predicted Effect probably benign
Transcript: ENSMUST00000047526
AA Change: M687V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995
AA Change: M687V

DomainStartEndE-ValueType
low complexity region 22 29 N/A INTRINSIC
Pfam:BAR_3 32 264 5.5e-20 PFAM
PH 303 396 5.61e-17 SMART
ArfGap 425 547 8.33e-31 SMART
ANK 584 616 4.86e1 SMART
ANK 620 649 3.06e-5 SMART
low complexity region 794 806 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Asap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Asap3 APN 4 135,933,879 (GRCm39) missense probably damaging 1.00
IGL01865:Asap3 APN 4 135,963,715 (GRCm39) missense probably damaging 1.00
IGL02045:Asap3 APN 4 135,954,752 (GRCm39) missense probably benign 0.01
IGL02105:Asap3 APN 4 135,955,785 (GRCm39) critical splice donor site probably null
IGL02135:Asap3 APN 4 135,968,464 (GRCm39) critical splice acceptor site probably null
IGL02484:Asap3 APN 4 135,956,768 (GRCm39) splice site probably benign
IGL02524:Asap3 APN 4 135,965,927 (GRCm39) missense probably damaging 1.00
IGL02881:Asap3 APN 4 135,966,548 (GRCm39) missense probably benign 0.00
R0128:Asap3 UTSW 4 135,961,915 (GRCm39) missense probably damaging 0.99
R0883:Asap3 UTSW 4 135,961,636 (GRCm39) splice site probably benign
R0903:Asap3 UTSW 4 135,965,687 (GRCm39) missense probably benign
R1073:Asap3 UTSW 4 135,963,742 (GRCm39) missense probably damaging 1.00
R1498:Asap3 UTSW 4 135,966,505 (GRCm39) missense probably benign
R1951:Asap3 UTSW 4 135,954,767 (GRCm39) nonsense probably null
R1953:Asap3 UTSW 4 135,954,767 (GRCm39) nonsense probably null
R3703:Asap3 UTSW 4 135,968,552 (GRCm39) small insertion probably benign
R3704:Asap3 UTSW 4 135,968,552 (GRCm39) small insertion probably benign
R3705:Asap3 UTSW 4 135,968,552 (GRCm39) small insertion probably benign
R3754:Asap3 UTSW 4 135,956,766 (GRCm39) splice site probably null
R3773:Asap3 UTSW 4 135,954,886 (GRCm39) missense probably benign 0.22
R3911:Asap3 UTSW 4 135,956,768 (GRCm39) splice site probably benign
R4570:Asap3 UTSW 4 135,967,496 (GRCm39) missense probably damaging 0.99
R4879:Asap3 UTSW 4 135,969,975 (GRCm39) missense probably benign 0.04
R5394:Asap3 UTSW 4 135,968,570 (GRCm39) missense probably benign 0.00
R5497:Asap3 UTSW 4 135,966,533 (GRCm39) missense probably benign 0.13
R5914:Asap3 UTSW 4 135,968,720 (GRCm39) missense probably benign 0.18
R6214:Asap3 UTSW 4 135,968,736 (GRCm39) missense possibly damaging 0.80
R6495:Asap3 UTSW 4 135,955,790 (GRCm39) splice site probably null
R6577:Asap3 UTSW 4 135,965,541 (GRCm39) splice site probably null
R6823:Asap3 UTSW 4 135,954,883 (GRCm39) missense possibly damaging 0.95
R7067:Asap3 UTSW 4 135,968,673 (GRCm39) splice site probably null
R7081:Asap3 UTSW 4 135,968,881 (GRCm39) critical splice donor site probably null
R7471:Asap3 UTSW 4 135,960,957 (GRCm39) missense possibly damaging 0.71
R8035:Asap3 UTSW 4 135,968,514 (GRCm39) missense probably benign 0.09
R8398:Asap3 UTSW 4 135,961,704 (GRCm39) missense probably benign
R8695:Asap3 UTSW 4 135,965,722 (GRCm39) missense probably benign 0.00
R8921:Asap3 UTSW 4 135,963,726 (GRCm39) missense probably benign 0.03
R9021:Asap3 UTSW 4 135,966,299 (GRCm39) critical splice donor site probably null
R9790:Asap3 UTSW 4 135,961,914 (GRCm39) missense probably damaging 0.99
R9791:Asap3 UTSW 4 135,961,914 (GRCm39) missense probably damaging 0.99
Z1176:Asap3 UTSW 4 135,968,814 (GRCm39) missense probably damaging 1.00
Z1176:Asap3 UTSW 4 135,967,512 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- AGAGACAGCCCTGGACATAG -3'
(R):5'- AACGGTCTCATAGGTCTTGTTGC -3'

Sequencing Primer
(F):5'- GCCCTGGACATAGCCAGAAAC -3'
(R):5'- TGATGTCCAGCCTCACACTAC -3'
Posted On 2018-02-27