Incidental Mutation 'R3705:Asap3'
ID 258694
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 040698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R3705 (G1)
Quality Score 217
Status Validated
Chromosome 4
Chromosomal Location 135933676-135972527 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) TGAGGAGGAGGAGGAGGA to TGAGGAGGAGGAGGAGGAGGA at 135968552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047526]
AlphaFold Q5U464
Predicted Effect probably benign
Transcript: ENSMUST00000047526
SMART Domains Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abca12 T C 1: 71,324,864 (GRCm39) D1538G probably damaging Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Bltp1 T A 3: 37,041,730 (GRCm39) C2703S probably damaging Het
Brwd3 A G X: 107,804,021 (GRCm39) probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Csf3r A G 4: 125,926,078 (GRCm39) D221G possibly damaging Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Dnajc19 A G 3: 34,134,378 (GRCm39) probably null Het
Dync1h1 G A 12: 110,607,020 (GRCm39) V2566I possibly damaging Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Fam133b T C 5: 3,611,034 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Gpnmb T A 6: 49,028,799 (GRCm39) I439N possibly damaging Het
Grm1 G A 10: 10,658,473 (GRCm39) T339I possibly damaging Het
Gtpbp3 T G 8: 71,944,779 (GRCm39) S345A probably benign Het
Hdac4 A G 1: 91,862,416 (GRCm39) probably benign Het
Hfm1 A G 5: 107,040,705 (GRCm39) probably benign Het
Ift172 A G 5: 31,418,781 (GRCm39) probably null Het
Igfn1 T C 1: 135,896,147 (GRCm39) N1473S probably benign Het
Jak3 A G 8: 72,134,166 (GRCm39) K423E probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Lrrc8d T C 5: 105,961,341 (GRCm39) S584P probably damaging Het
Nipal4 T C 11: 46,052,678 (GRCm39) probably benign Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Nmur2 T C 11: 55,931,300 (GRCm39) Y137C probably damaging Het
Nod2 T C 8: 89,379,948 (GRCm39) S150P probably benign Het
Or5w22 A G 2: 87,362,412 (GRCm39) I12V probably benign Het
Pdgfc T C 3: 81,111,751 (GRCm39) probably null Het
Phldb1 G T 9: 44,605,691 (GRCm39) H1323N probably damaging Het
Ppp1r14c A G 10: 3,373,524 (GRCm39) I112V possibly damaging Het
Pramel26 T C 4: 143,538,345 (GRCm39) T209A probably benign Het
Rcc1l A T 5: 134,183,030 (GRCm39) V414E probably damaging Het
Riok3 A G 18: 12,282,011 (GRCm39) M327V probably benign Het
Sf3b4 T C 3: 96,083,944 (GRCm39) probably benign Het
Spag6 A G 2: 18,715,368 (GRCm39) Y49C probably damaging Het
Syngap1 T C 17: 27,178,994 (GRCm39) S495P probably damaging Het
Tedc2 A G 17: 24,435,361 (GRCm39) S343P probably benign Het
Tenm2 T A 11: 35,959,153 (GRCm39) D1132V probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Top1 G A 2: 160,544,744 (GRCm39) probably null Het
Tox3 G T 8: 90,975,533 (GRCm39) T366K possibly damaging Het
Tph2 G A 10: 114,955,798 (GRCm39) Q332* probably null Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G 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
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
R6208:Asap3 UTSW 4 135,968,508 (GRCm39) missense probably benign
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'- AAGAGCTGGTGAGTCTGACC -3'
(R):5'- TCCTCACTTTGGCTCTGAGTGG -3'

Sequencing Primer
(F):5'- CTGGTGAGTCTGACCGGAGAG -3'
(R):5'- TGGCAACGGTCTCATAGGTC -3'
Posted On 2015-01-23