Incidental Mutation 'R6863:Agap3'
ID 535741
Institutional Source Beutler Lab
Gene Symbol Agap3
Ensembl Gene ENSMUSG00000023353
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Synonyms Centg3, MRIP-1, Crag
MMRRC Submission 044963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6863 (G1)
Quality Score 209.009
Status Validated
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 24657462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 86 (Y86*)
Ref Sequence ENSEMBL: ENSMUSP00000148770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000030799] [ENSMUST00000115033] [ENSMUST00000123167] [ENSMUST00000127194] [ENSMUST00000212381]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000024123
AA Change: Y86*
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: Y86*

DomainStartEndE-ValueType
low complexity region 4 59 N/A INTRINSIC
Pfam:Ras 128 286 1.2e-18 PFAM
low complexity region 328 345 N/A INTRINSIC
PH 403 642 2.76e-16 SMART
ArfGap 661 781 9.17e-51 SMART
ANK 820 849 2.43e1 SMART
ANK 853 885 9.17e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030799
SMART Domains Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
transmembrane domain 190 212 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115033
SMART Domains Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
transmembrane domain 190 212 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123167
SMART Domains Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
Blast:UBQ 102 122 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127194
SMART Domains Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
low complexity region 175 204 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000212381
AA Change: Y86*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,277,627 (GRCm39) Y278* probably null Het
Ahnak T C 19: 8,989,729 (GRCm39) probably benign Het
Arhgap45 G T 10: 79,853,616 (GRCm39) E43D probably benign Het
Cacna1d A C 14: 29,797,809 (GRCm39) I1426S probably damaging Het
Calhm5 C A 10: 33,968,451 (GRCm39) A201S probably benign Het
Cdkn2a T C 4: 89,193,003 (GRCm39) E159G probably benign Het
Cep85l C A 10: 53,225,214 (GRCm39) W125L probably damaging Het
Ces1g C T 8: 94,043,647 (GRCm39) V431M possibly damaging Het
Csmd1 G A 8: 17,584,929 (GRCm39) A21V possibly damaging Het
Ctsc T A 7: 87,951,486 (GRCm39) Y243* probably null Het
Ctu1 A G 7: 43,326,046 (GRCm39) E235G probably damaging Het
Degs2 T C 12: 108,668,457 (GRCm39) Y14C probably damaging Het
Dnaaf5 T C 5: 139,137,351 (GRCm39) F235L probably damaging Het
Dpp8 T C 9: 64,942,290 (GRCm39) S5P probably damaging Het
Dync1h1 T C 12: 110,618,614 (GRCm39) I3288T probably benign Het
Ebpl A T 14: 61,597,751 (GRCm39) L30Q probably damaging Het
Eif1ad15 T C 12: 88,287,968 (GRCm39) Y95C probably damaging Het
Etaa1 T A 11: 17,903,794 (GRCm39) M1L probably benign Het
Etl4 A G 2: 20,811,120 (GRCm39) T1068A probably benign Het
Eya1 C A 1: 14,341,199 (GRCm39) probably null Het
Fat1 G T 8: 45,497,501 (GRCm39) V4329L probably damaging Het
Fras1 A T 5: 96,691,165 (GRCm39) Q127L probably benign Het
Gm1110 T G 9: 26,792,360 (GRCm39) Y590S probably damaging Het
Gm14410 G A 2: 176,885,860 (GRCm39) Q135* probably null Het
Greb1 A T 12: 16,734,421 (GRCm39) V1523D probably damaging Het
Hmg20b T C 10: 81,182,854 (GRCm39) N210S probably damaging Het
Kcnh7 T C 2: 62,618,029 (GRCm39) K487E possibly damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif17 T A 4: 137,997,195 (GRCm39) Y139* probably null Het
Klhl2 A T 8: 65,275,743 (GRCm39) N53K probably benign Het
Lrit2 G T 14: 36,793,901 (GRCm39) G322C probably damaging Het
Macir T C 1: 97,574,030 (GRCm39) T12A probably benign Het
Matcap1 T C 8: 106,012,435 (GRCm39) D4G probably damaging Het
Mgam A T 6: 40,705,943 (GRCm39) Q4L probably benign Het
Mst1r A G 9: 107,797,225 (GRCm39) T1365A probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mydgf C A 17: 56,490,789 (GRCm39) V35L probably damaging Het
Nmt2 T A 2: 3,306,341 (GRCm39) probably null Het
Or10s1 A G 9: 39,986,110 (GRCm39) Y173C probably damaging Het
Or52ad1 C T 7: 102,996,123 (GRCm39) C4Y possibly damaging Het
Pik3r2 T C 8: 71,223,058 (GRCm39) Y454C probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rapgef6 T A 11: 54,437,206 (GRCm39) S50T probably benign Het
Scaf11 T C 15: 96,317,300 (GRCm39) S755G probably damaging Het
Shb A G 4: 45,458,163 (GRCm39) W135R probably damaging Het
Slc1a4 T C 11: 20,264,001 (GRCm39) K239E probably damaging Het
Slc44a4 T A 17: 35,142,798 (GRCm39) V248D probably benign Het
Smpdl3a T A 10: 57,684,107 (GRCm39) Y288* probably null Het
Sptbn1 T C 11: 30,096,777 (GRCm39) M267V possibly damaging Het
Taok2 C T 7: 126,471,109 (GRCm39) R661Q probably damaging Het
Tas1r2 A T 4: 139,397,030 (GRCm39) I819F probably damaging Het
Themis2 A T 4: 132,516,907 (GRCm39) W198R probably damaging Het
Timd4 C G 11: 46,706,270 (GRCm39) S24* probably null Het
Tnrc18 T C 5: 142,800,952 (GRCm39) D2G probably damaging Het
Wdr35 A G 12: 9,040,047 (GRCm39) D384G probably damaging Het
Zfp560 C A 9: 20,259,795 (GRCm39) V356F probably damaging Het
Other mutations in Agap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Agap3 APN 5 24,703,107 (GRCm39) missense probably damaging 0.99
IGL00900:Agap3 APN 5 24,681,366 (GRCm39) splice site probably benign
IGL00966:Agap3 APN 5 24,706,000 (GRCm39) splice site probably benign
IGL02207:Agap3 APN 5 24,704,934 (GRCm39) missense probably benign
IGL02431:Agap3 APN 5 24,706,010 (GRCm39) missense probably damaging 1.00
IGL02601:Agap3 APN 5 24,688,369 (GRCm39) missense possibly damaging 0.67
IGL03090:Agap3 APN 5 24,706,204 (GRCm39) missense possibly damaging 0.91
IGL03131:Agap3 APN 5 24,682,130 (GRCm39) missense probably benign 0.16
IGL03247:Agap3 APN 5 24,692,820 (GRCm39) missense probably damaging 1.00
R0165:Agap3 UTSW 5 24,684,743 (GRCm39) missense probably damaging 0.98
R0344:Agap3 UTSW 5 24,656,200 (GRCm39) unclassified probably benign
R0496:Agap3 UTSW 5 24,706,241 (GRCm39) missense probably damaging 1.00
R0542:Agap3 UTSW 5 24,705,184 (GRCm39) missense possibly damaging 0.95
R1427:Agap3 UTSW 5 24,681,691 (GRCm39) missense probably benign 0.03
R1840:Agap3 UTSW 5 24,705,229 (GRCm39) missense probably damaging 1.00
R1903:Agap3 UTSW 5 24,698,011 (GRCm39) missense probably damaging 1.00
R2101:Agap3 UTSW 5 24,692,797 (GRCm39) missense probably damaging 1.00
R4601:Agap3 UTSW 5 24,681,406 (GRCm39) missense probably damaging 1.00
R4745:Agap3 UTSW 5 24,656,123 (GRCm39) splice site probably null
R4807:Agap3 UTSW 5 24,682,114 (GRCm39) missense probably damaging 1.00
R4808:Agap3 UTSW 5 24,706,243 (GRCm39) missense probably benign
R4916:Agap3 UTSW 5 24,683,011 (GRCm39) missense probably damaging 0.98
R5056:Agap3 UTSW 5 24,682,860 (GRCm39) missense probably damaging 1.00
R5094:Agap3 UTSW 5 24,656,319 (GRCm39) unclassified probably benign
R5646:Agap3 UTSW 5 24,688,395 (GRCm39) missense probably benign 0.01
R5937:Agap3 UTSW 5 24,682,815 (GRCm39) missense probably damaging 0.99
R6365:Agap3 UTSW 5 24,679,983 (GRCm39) missense probably benign 0.43
R6798:Agap3 UTSW 5 24,703,280 (GRCm39) splice site probably null
R6802:Agap3 UTSW 5 24,692,791 (GRCm39) missense possibly damaging 0.87
R6863:Agap3 UTSW 5 24,657,461 (GRCm39) missense possibly damaging 0.63
R7039:Agap3 UTSW 5 24,688,399 (GRCm39) missense probably benign 0.01
R7111:Agap3 UTSW 5 24,706,396 (GRCm39) missense probably damaging 1.00
R7313:Agap3 UTSW 5 24,657,382 (GRCm39) missense probably benign 0.25
R7791:Agap3 UTSW 5 24,681,411 (GRCm39) missense probably damaging 1.00
R8124:Agap3 UTSW 5 24,683,128 (GRCm39) missense probably benign 0.02
R8293:Agap3 UTSW 5 24,692,883 (GRCm39) missense probably damaging 1.00
R8907:Agap3 UTSW 5 24,679,629 (GRCm39) missense probably benign
R9127:Agap3 UTSW 5 24,681,439 (GRCm39) splice site probably benign
R9694:Agap3 UTSW 5 24,682,139 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGCCATGAACTTCCAGGCAG -3'
(R):5'- AGCTCCATAAGACCCCTGAG -3'

Sequencing Primer
(F):5'- AGAGTCCTCAGCAGCAGCAG -3'
(R):5'- TAAGACCCCTGAGCGCCAG -3'
Posted On 2018-10-18