Incidental Mutation 'IGL00574:Agap3'
ID 8643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agap3
Ensembl Gene ENSMUSG00000023353
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Synonyms Centg3, MRIP-1, Crag
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL00574
Quality Score
Status
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24703107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 568 (L568Q)
Ref Sequence ENSEMBL: ENSMUSP00000024123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000088311]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024123
AA Change: L568Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: L568Q

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: ENSMUST00000088311
SMART Domains Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
low complexity region 113 136 N/A INTRINSIC
low complexity region 181 191 N/A INTRINSIC
low complexity region 257 296 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
HOX 316 378 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197513
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T C 1: 125,339,011 (GRCm39) Y109C probably damaging Het
Baiap2 T C 11: 119,897,234 (GRCm39) S530P probably damaging Het
Bmpr1a T C 14: 34,156,376 (GRCm39) I164V probably benign Het
Btaf1 A G 19: 36,947,330 (GRCm39) N473S probably benign Het
Egr4 T C 6: 85,489,487 (GRCm39) D191G probably damaging Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Grk4 T A 5: 34,852,162 (GRCm39) N135K probably benign Het
Hectd1 T C 12: 51,820,787 (GRCm39) N1134S probably benign Het
Macrod2 T G 2: 140,242,797 (GRCm39) M21R probably damaging Het
Mtx3 G T 13: 92,984,384 (GRCm39) Q188H possibly damaging Het
Otx1 T C 11: 21,946,794 (GRCm39) probably benign Het
Pcdhb8 T G 18: 37,489,423 (GRCm39) F26C probably damaging Het
Pdgfra T A 5: 75,341,708 (GRCm39) I647K probably damaging Het
Psapl1 C A 5: 36,362,975 (GRCm39) N522K probably benign Het
Rbm10 T A X: 20,516,931 (GRCm39) probably benign Het
Rbm10 G A X: 20,516,932 (GRCm39) probably benign Het
Ric1 A G 19: 29,572,762 (GRCm39) E734G probably damaging Het
Sec24c T C 14: 20,742,463 (GRCm39) V837A probably damaging Het
Shoc1 T A 4: 59,094,201 (GRCm39) R174S possibly damaging Het
Sohlh2 C T 3: 55,111,747 (GRCm39) probably benign Het
Tex10 G A 4: 48,469,937 (GRCm39) Q43* probably null Het
Tmem147 G A 7: 30,427,858 (GRCm39) R66* probably null Het
Tmem150c G T 5: 100,240,810 (GRCm39) H51N probably benign Het
Usp47 A T 7: 111,662,542 (GRCm39) K228M probably damaging Het
Other mutations in Agap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 24,657,462 (GRCm39) nonsense probably null
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
Posted On 2012-12-06