Incidental Mutation 'R7067:Asap3'
ID 568640
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 045163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135933676-135972527 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 135968673 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 null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging 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
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
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'- ACGCAAGCCTTTGTTCTTGG -3'
(R):5'- TGTACCTCCACTGCAATGTC -3'

Sequencing Primer
(F):5'- TCTTGGCAGCTGGAGCAG -3'
(R):5'- ACTGCAATGTCCGGCTC -3'
Posted On 2019-09-05