Incidental Mutation 'IGL03131:Agap3'
ID 410318
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 # IGL03131
Quality Score
Status
Chromosome 5
Chromosomal Location 24657175-24707045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24682130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 392 (T392A)
Ref Sequence ENSEMBL: ENSMUSP00000142529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856] [ENSMUST00000212381]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024123
AA Change: T209A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: T209A

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: ENSMUST00000197513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199647
Predicted Effect probably benign
Transcript: ENSMUST00000199856
AA Change: T392A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: T392A

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
low complexity region 66 108 N/A INTRINSIC
low complexity region 242 255 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
small_GTPase 307 473 3.2e-11 SMART
low complexity region 511 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212381
AA Change: T209A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P 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
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 2016-08-02