Incidental Mutation 'R0415:Arfgef3'
ID 40255
Institutional Source Beutler Lab
Gene Symbol Arfgef3
Ensembl Gene ENSMUSG00000019852
Gene Name ARFGEF family member 3
Synonyms B930094H20Rik, D10Bwg1379e, BIG3
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R0415 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 18581839-18743949 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 18613127 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019999] [ENSMUST00000215836]
AlphaFold Q3UGY8
Predicted Effect probably benign
Transcript: ENSMUST00000019999
SMART Domains Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852

DomainStartEndE-ValueType
Pfam:DCB 1 170 7.1e-15 PFAM
low complexity region 236 245 N/A INTRINSIC
low complexity region 276 295 N/A INTRINSIC
low complexity region 452 462 N/A INTRINSIC
Sec7 582 794 6e-54 SMART
Blast:Sec7 798 873 3e-20 BLAST
low complexity region 927 940 N/A INTRINSIC
Pfam:DUF1981 1237 1312 1.9e-14 PFAM
low complexity region 1641 1652 N/A INTRINSIC
low complexity region 1710 1723 N/A INTRINSIC
low complexity region 1838 1856 N/A INTRINSIC
low complexity region 2088 2099 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215836
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased insulin granule biogenesis and insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 23,831,050 (GRCm38) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,431,067 (GRCm38) probably null Het
Adgra3 C A 5: 49,961,757 (GRCm38) probably benign Het
Adgre4 G A 17: 55,852,288 (GRCm38) V658I probably benign Het
Ahnak A G 19: 9,012,871 (GRCm38) probably benign Het
Anapc2 A G 2: 25,278,325 (GRCm38) T159A probably damaging Het
Atf7ip C T 6: 136,560,012 (GRCm38) S81L possibly damaging Het
Cacna1i A G 15: 80,368,830 (GRCm38) probably benign Het
Camk1 A T 6: 113,341,891 (GRCm38) Y20* probably null Het
Ccdc40 T C 11: 119,232,118 (GRCm38) Y249H possibly damaging Het
Cd109 T A 9: 78,712,615 (GRCm38) S1380T probably benign Het
Cfap57 A T 4: 118,569,431 (GRCm38) L1107Q possibly damaging Het
Col6a4 C T 9: 106,075,080 (GRCm38) V540I probably damaging Het
Cst9 T A 2: 148,838,442 (GRCm38) probably benign Het
Cul5 C T 9: 53,667,070 (GRCm38) V73I probably benign Het
Cxcl16 T A 11: 70,458,748 (GRCm38) K84* probably null Het
Cyp2c29 T C 19: 39,329,095 (GRCm38) probably benign Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Dip2c C T 13: 9,568,289 (GRCm38) probably benign Het
Dis3 A T 14: 99,087,456 (GRCm38) I513N probably damaging Het
Dnajc16 A T 4: 141,789,048 (GRCm38) L3* probably null Het
Dopey1 T A 9: 86,506,502 (GRCm38) L480M probably damaging Het
Eml6 A G 11: 29,749,392 (GRCm38) V1787A possibly damaging Het
Etnk1 A G 6: 143,180,774 (GRCm38) N115S probably damaging Het
Fryl T C 5: 73,098,414 (GRCm38) Y758C probably damaging Het
Gbp4 G A 5: 105,121,106 (GRCm38) R394C possibly damaging Het
Ggnbp2 A C 11: 84,833,225 (GRCm38) probably benign Het
Gm7137 A G 10: 77,788,173 (GRCm38) probably benign Het
Gstm2 T A 3: 107,984,006 (GRCm38) Q132L probably benign Het
Habp2 T C 19: 56,317,717 (GRCm38) probably benign Het
Hectd2 T C 19: 36,584,884 (GRCm38) probably benign Het
Htr6 A G 4: 139,062,081 (GRCm38) I291T possibly damaging Het
Ighg2c T C 12: 113,287,910 (GRCm38) D199G unknown Het
Itih2 A G 2: 10,105,615 (GRCm38) probably benign Het
Kcnab2 A G 4: 152,395,136 (GRCm38) F248S probably benign Het
Kcnc4 T C 3: 107,445,433 (GRCm38) K610E probably damaging Het
Kcnk16 T A 14: 20,262,975 (GRCm38) probably null Het
Kndc1 C T 7: 139,930,124 (GRCm38) T1293I probably damaging Het
Lcp1 A T 14: 75,227,006 (GRCm38) I556F possibly damaging Het
Lrrc8d T C 5: 105,811,865 (GRCm38) L47P probably damaging Het
Lyst T C 13: 13,711,610 (GRCm38) probably benign Het
Macrod2 G A 2: 142,210,145 (GRCm38) probably null Het
Micalcl C T 7: 112,381,028 (GRCm38) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,841,339 (GRCm38) probably benign Het
Msh3 A G 13: 92,346,786 (GRCm38) V283A possibly damaging Het
Nup205 T C 6: 35,214,634 (GRCm38) probably benign Het
Nxpe2 T C 9: 48,326,614 (GRCm38) T114A probably damaging Het
Olfr1023 A T 2: 85,887,438 (GRCm38) I213F possibly damaging Het
Olfr1034 A T 2: 86,047,055 (GRCm38) H191L probably benign Het
Olfr229 A G 9: 39,909,983 (GRCm38) Y60C probably damaging Het
Olfr78 C T 7: 102,742,087 (GRCm38) M305I probably benign Het
Olfr893 A T 9: 38,209,973 (GRCm38) M305L probably benign Het
Pard3 G A 8: 127,610,566 (GRCm38) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm38) A120V probably damaging Het
Pcsk6 C T 7: 66,033,874 (GRCm38) R746C probably damaging Het
Pif1 G A 9: 65,588,051 (GRCm38) C81Y probably benign Het
Plcb1 A G 2: 135,337,499 (GRCm38) Y609C probably damaging Het
Plcd4 C A 1: 74,552,097 (GRCm38) S217Y probably damaging Het
Plxna1 G A 6: 89,357,336 (GRCm38) H104Y probably benign Het
Polr2k A G 15: 36,175,456 (GRCm38) Y45C probably damaging Het
Pqlc3 C A 12: 16,997,710 (GRCm38) probably benign Het
Prex1 A G 2: 166,586,699 (GRCm38) probably benign Het
Pth2r A G 1: 65,388,439 (GRCm38) M424V probably benign Het
Pygm A G 19: 6,391,366 (GRCm38) R464G probably benign Het
Rad51c A G 11: 87,397,655 (GRCm38) L234P probably damaging Het
Rnf145 A G 11: 44,525,138 (GRCm38) Y60C probably damaging Het
Rnf167 T C 11: 70,649,699 (GRCm38) I135T probably damaging Het
Rnf213 A T 11: 119,414,469 (GRCm38) I509F probably damaging Het
Ryr2 T C 13: 11,869,156 (GRCm38) S213G probably damaging Het
Selenbp1 T C 3: 94,936,913 (GRCm38) V27A possibly damaging Het
Selenof T G 3: 144,577,692 (GRCm38) L14R probably damaging Het
Sfswap A T 5: 129,504,126 (GRCm38) D121V probably damaging Het
Slc25a34 C A 4: 141,620,469 (GRCm38) M300I possibly damaging Het
Slc34a3 T G 2: 25,229,110 (GRCm38) T583P probably benign Het
Smg1 C A 7: 118,182,468 (GRCm38) A1199S probably benign Het
Spint1 A G 2: 119,245,615 (GRCm38) T231A probably damaging Het
Sptbn1 A C 11: 30,149,576 (GRCm38) N229K probably damaging Het
Sult2b1 A G 7: 45,730,092 (GRCm38) probably benign Het
Tas2r123 A T 6: 132,847,838 (GRCm38) M233L probably damaging Het
Tbcel C A 9: 42,444,500 (GRCm38) C139F probably benign Het
Thbs2 A C 17: 14,679,973 (GRCm38) S573A probably benign Het
Tmem132c A G 5: 127,563,705 (GRCm38) E980G probably damaging Het
Tmem247 G T 17: 86,922,322 (GRCm38) C197F probably damaging Het
Tmem251 T A 12: 102,744,876 (GRCm38) Y119* probably null Het
Tmem43 C A 6: 91,482,318 (GRCm38) P257Q probably benign Het
Tmprss13 A G 9: 45,337,132 (GRCm38) probably null Het
Trove2 G T 1: 143,760,075 (GRCm38) N444K probably benign Het
Ubr5 T C 15: 37,972,980 (GRCm38) T2626A probably damaging Het
Vmn1r196 T A 13: 22,293,836 (GRCm38) V215D probably damaging Het
Vmn1r22 G T 6: 57,900,332 (GRCm38) T220K probably benign Het
Vmn2r116 G A 17: 23,387,279 (GRCm38) M388I possibly damaging Het
Vmn2r74 A C 7: 85,961,410 (GRCm38) C25G probably damaging Het
Xndc1 T C 7: 102,080,616 (GRCm38) probably benign Het
Zfp282 A G 6: 47,897,881 (GRCm38) D340G probably damaging Het
Zfp282 T A 6: 47,905,053 (GRCm38) I558N possibly damaging Het
Zfp316 T A 5: 143,264,491 (GRCm38) T56S unknown Het
Zfp345 A G 2: 150,474,559 (GRCm38) probably benign Het
Other mutations in Arfgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Arfgef3 APN 10 18,660,604 (GRCm38) missense probably benign 0.03
IGL00835:Arfgef3 APN 10 18,661,358 (GRCm38) missense probably benign
IGL00961:Arfgef3 APN 10 18,611,237 (GRCm38) missense probably damaging 1.00
IGL01400:Arfgef3 APN 10 18,652,706 (GRCm38) missense probably damaging 1.00
IGL01501:Arfgef3 APN 10 18,600,560 (GRCm38) missense possibly damaging 0.93
IGL01595:Arfgef3 APN 10 18,594,912 (GRCm38) missense possibly damaging 0.93
IGL01695:Arfgef3 APN 10 18,603,419 (GRCm38) missense probably benign 0.00
IGL01774:Arfgef3 APN 10 18,743,615 (GRCm38) missense possibly damaging 0.94
IGL02348:Arfgef3 APN 10 18,591,347 (GRCm38) missense probably benign 0.04
IGL02371:Arfgef3 APN 10 18,646,539 (GRCm38) missense probably benign
IGL02400:Arfgef3 APN 10 18,646,257 (GRCm38) missense probably damaging 1.00
IGL02630:Arfgef3 APN 10 18,661,392 (GRCm38) splice site probably benign
IGL02815:Arfgef3 APN 10 18,652,551 (GRCm38) missense probably damaging 1.00
IGL03178:Arfgef3 APN 10 18,613,225 (GRCm38) missense probably damaging 1.00
IGL03182:Arfgef3 APN 10 18,600,544 (GRCm38) missense probably damaging 1.00
IGL03267:Arfgef3 APN 10 18,591,882 (GRCm38) missense probably damaging 1.00
IGL03294:Arfgef3 APN 10 18,664,912 (GRCm38) missense probably damaging 0.97
IGL03410:Arfgef3 APN 10 18,600,490 (GRCm38) missense probably damaging 1.00
Bow-wow UTSW 10 18,646,730 (GRCm38) nonsense probably null
R0098:Arfgef3 UTSW 10 18,589,642 (GRCm38) missense probably damaging 1.00
R0098:Arfgef3 UTSW 10 18,589,642 (GRCm38) missense probably damaging 1.00
R0141:Arfgef3 UTSW 10 18,597,407 (GRCm38) missense probably damaging 1.00
R0164:Arfgef3 UTSW 10 18,647,915 (GRCm38) missense possibly damaging 0.77
R0164:Arfgef3 UTSW 10 18,647,915 (GRCm38) missense possibly damaging 0.77
R0241:Arfgef3 UTSW 10 18,599,214 (GRCm38) missense probably damaging 1.00
R0334:Arfgef3 UTSW 10 18,592,281 (GRCm38) missense probably damaging 0.98
R0352:Arfgef3 UTSW 10 18,661,387 (GRCm38) missense probably benign 0.17
R0417:Arfgef3 UTSW 10 18,603,511 (GRCm38) missense probably damaging 1.00
R0442:Arfgef3 UTSW 10 18,677,815 (GRCm38) splice site probably benign
R0507:Arfgef3 UTSW 10 18,591,621 (GRCm38) missense probably damaging 1.00
R0573:Arfgef3 UTSW 10 18,599,288 (GRCm38) missense probably damaging 1.00
R0582:Arfgef3 UTSW 10 18,611,290 (GRCm38) missense probably damaging 1.00
R0609:Arfgef3 UTSW 10 18,597,431 (GRCm38) missense probably benign 0.31
R0826:Arfgef3 UTSW 10 18,589,666 (GRCm38) missense probably damaging 0.98
R0919:Arfgef3 UTSW 10 18,589,735 (GRCm38) missense possibly damaging 0.89
R0980:Arfgef3 UTSW 10 18,592,118 (GRCm38) missense possibly damaging 0.82
R1027:Arfgef3 UTSW 10 18,591,375 (GRCm38) missense probably benign 0.02
R1140:Arfgef3 UTSW 10 18,597,348 (GRCm38) missense possibly damaging 0.77
R1491:Arfgef3 UTSW 10 18,646,554 (GRCm38) missense probably damaging 1.00
R1493:Arfgef3 UTSW 10 18,630,879 (GRCm38) missense probably damaging 0.96
R1529:Arfgef3 UTSW 10 18,613,222 (GRCm38) nonsense probably null
R1564:Arfgef3 UTSW 10 18,591,704 (GRCm38) missense probably damaging 1.00
R1654:Arfgef3 UTSW 10 18,625,148 (GRCm38) missense probably null 0.15
R1868:Arfgef3 UTSW 10 18,661,387 (GRCm38) missense probably benign 0.17
R1876:Arfgef3 UTSW 10 18,597,356 (GRCm38) missense probably damaging 1.00
R1908:Arfgef3 UTSW 10 18,652,763 (GRCm38) missense possibly damaging 0.80
R2211:Arfgef3 UTSW 10 18,592,245 (GRCm38) missense possibly damaging 0.54
R2316:Arfgef3 UTSW 10 18,616,953 (GRCm38) missense probably benign 0.19
R2393:Arfgef3 UTSW 10 18,597,787 (GRCm38) missense possibly damaging 0.88
R2407:Arfgef3 UTSW 10 18,677,866 (GRCm38) missense possibly damaging 0.63
R3076:Arfgef3 UTSW 10 18,603,530 (GRCm38) missense probably damaging 0.99
R3077:Arfgef3 UTSW 10 18,603,530 (GRCm38) missense probably damaging 0.99
R3963:Arfgef3 UTSW 10 18,592,277 (GRCm38) missense probably damaging 1.00
R4201:Arfgef3 UTSW 10 18,619,782 (GRCm38) missense probably benign 0.01
R4241:Arfgef3 UTSW 10 18,625,164 (GRCm38) missense probably damaging 1.00
R4244:Arfgef3 UTSW 10 18,630,420 (GRCm38) missense probably damaging 1.00
R4395:Arfgef3 UTSW 10 18,597,709 (GRCm38) missense probably damaging 1.00
R4455:Arfgef3 UTSW 10 18,607,675 (GRCm38) missense probably benign 0.18
R4480:Arfgef3 UTSW 10 18,600,600 (GRCm38) missense probably damaging 1.00
R4499:Arfgef3 UTSW 10 18,608,343 (GRCm38) missense possibly damaging 0.95
R4589:Arfgef3 UTSW 10 18,646,199 (GRCm38) missense probably damaging 1.00
R4635:Arfgef3 UTSW 10 18,634,855 (GRCm38) missense probably damaging 1.00
R4776:Arfgef3 UTSW 10 18,654,247 (GRCm38) missense probably benign
R4801:Arfgef3 UTSW 10 18,591,906 (GRCm38) missense probably benign 0.00
R4802:Arfgef3 UTSW 10 18,591,906 (GRCm38) missense probably benign 0.00
R4807:Arfgef3 UTSW 10 18,646,637 (GRCm38) missense probably benign
R4828:Arfgef3 UTSW 10 18,652,693 (GRCm38) missense probably damaging 0.99
R4861:Arfgef3 UTSW 10 18,607,731 (GRCm38) missense probably benign 0.01
R4861:Arfgef3 UTSW 10 18,607,731 (GRCm38) missense probably benign 0.01
R4917:Arfgef3 UTSW 10 18,616,890 (GRCm38) missense probably damaging 0.99
R4918:Arfgef3 UTSW 10 18,616,890 (GRCm38) missense probably damaging 0.99
R4922:Arfgef3 UTSW 10 18,592,186 (GRCm38) missense probably damaging 0.97
R4929:Arfgef3 UTSW 10 18,630,851 (GRCm38) missense probably benign 0.00
R4937:Arfgef3 UTSW 10 18,589,706 (GRCm38) missense probably damaging 0.98
R5290:Arfgef3 UTSW 10 18,600,460 (GRCm38) missense probably damaging 1.00
R5410:Arfgef3 UTSW 10 18,611,237 (GRCm38) missense probably damaging 0.99
R5807:Arfgef3 UTSW 10 18,647,798 (GRCm38) splice site probably null
R5832:Arfgef3 UTSW 10 18,630,420 (GRCm38) missense probably damaging 1.00
R5887:Arfgef3 UTSW 10 18,607,665 (GRCm38) nonsense probably null
R6272:Arfgef3 UTSW 10 18,646,963 (GRCm38) missense probably benign 0.00
R6302:Arfgef3 UTSW 10 18,652,841 (GRCm38) missense probably damaging 0.97
R6397:Arfgef3 UTSW 10 18,607,665 (GRCm38) nonsense probably null
R6495:Arfgef3 UTSW 10 18,611,202 (GRCm38) critical splice donor site probably null
R6707:Arfgef3 UTSW 10 18,621,155 (GRCm38) missense probably benign 0.11
R6814:Arfgef3 UTSW 10 18,595,019 (GRCm38) missense probably damaging 1.00
R6830:Arfgef3 UTSW 10 18,664,889 (GRCm38) critical splice donor site probably null
R6870:Arfgef3 UTSW 10 18,646,730 (GRCm38) nonsense probably null
R6941:Arfgef3 UTSW 10 18,625,455 (GRCm38) missense possibly damaging 0.66
R7094:Arfgef3 UTSW 10 18,646,439 (GRCm38) missense probably damaging 1.00
R7179:Arfgef3 UTSW 10 18,599,267 (GRCm38) missense probably damaging 1.00
R7204:Arfgef3 UTSW 10 18,646,462 (GRCm38) missense probably damaging 1.00
R7247:Arfgef3 UTSW 10 18,625,391 (GRCm38) missense probably benign 0.00
R7249:Arfgef3 UTSW 10 18,630,835 (GRCm38) missense possibly damaging 0.62
R7318:Arfgef3 UTSW 10 18,630,463 (GRCm38) missense possibly damaging 0.89
R7391:Arfgef3 UTSW 10 18,646,259 (GRCm38) missense probably benign 0.05
R7527:Arfgef3 UTSW 10 18,646,629 (GRCm38) missense probably benign
R7618:Arfgef3 UTSW 10 18,646,281 (GRCm38) missense probably damaging 1.00
R7779:Arfgef3 UTSW 10 18,595,023 (GRCm38) missense probably damaging 0.99
R7851:Arfgef3 UTSW 10 18,592,286 (GRCm38) missense probably damaging 1.00
R8112:Arfgef3 UTSW 10 18,652,631 (GRCm38) missense possibly damaging 0.96
R8133:Arfgef3 UTSW 10 18,611,203 (GRCm38) critical splice donor site probably null
R8242:Arfgef3 UTSW 10 18,630,076 (GRCm38) missense probably benign 0.25
R8369:Arfgef3 UTSW 10 18,589,729 (GRCm38) missense probably benign 0.34
R8396:Arfgef3 UTSW 10 18,652,532 (GRCm38) critical splice donor site probably null
R8553:Arfgef3 UTSW 10 18,603,530 (GRCm38) missense probably damaging 0.99
R8798:Arfgef3 UTSW 10 18,647,051 (GRCm38) missense probably damaging 1.00
R8821:Arfgef3 UTSW 10 18,652,743 (GRCm38) missense possibly damaging 0.95
R8831:Arfgef3 UTSW 10 18,652,743 (GRCm38) missense possibly damaging 0.95
R8918:Arfgef3 UTSW 10 18,635,705 (GRCm38) missense probably benign 0.01
R8929:Arfgef3 UTSW 10 18,603,455 (GRCm38) missense probably damaging 1.00
R9001:Arfgef3 UTSW 10 18,646,728 (GRCm38) missense probably benign 0.32
R9077:Arfgef3 UTSW 10 18,625,151 (GRCm38) missense possibly damaging 0.81
R9258:Arfgef3 UTSW 10 18,589,639 (GRCm38) missense probably damaging 1.00
R9267:Arfgef3 UTSW 10 18,599,280 (GRCm38) missense probably damaging 1.00
R9358:Arfgef3 UTSW 10 18,616,880 (GRCm38) missense probably damaging 1.00
R9388:Arfgef3 UTSW 10 18,630,129 (GRCm38) missense probably benign 0.35
R9389:Arfgef3 UTSW 10 18,603,523 (GRCm38) missense probably damaging 1.00
R9563:Arfgef3 UTSW 10 18,646,527 (GRCm38) missense probably damaging 1.00
R9713:Arfgef3 UTSW 10 18,652,808 (GRCm38) missense probably damaging 1.00
X0026:Arfgef3 UTSW 10 18,652,626 (GRCm38) missense probably damaging 1.00
Z1176:Arfgef3 UTSW 10 18,634,852 (GRCm38) missense probably benign 0.26
Z1176:Arfgef3 UTSW 10 18,608,358 (GRCm38) missense probably damaging 0.97
Z1176:Arfgef3 UTSW 10 18,591,437 (GRCm38) missense probably damaging 1.00
Z1177:Arfgef3 UTSW 10 18,627,628 (GRCm38) missense probably damaging 1.00
Z1177:Arfgef3 UTSW 10 18,607,776 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACAATACCCTTGGACACTGGGC -3'
(R):5'- ACCTCCATTGGTGAGCTGGTTGAG -3'

Sequencing Primer
(F):5'- CTGTCCTAAATGCTAGGGACCAG -3'
(R):5'- AGGTGTGCTCTGCACAG -3'
Posted On 2013-05-23