Incidental Mutation 'R0609:Arfgef3'
ID 54539
Institutional Source Beutler Lab
Gene Symbol Arfgef3
Ensembl Gene ENSMUSG00000019852
Gene Name ARFGEF family member 3
Synonyms B930094H20Rik, BIG3, D10Bwg1379e
MMRRC Submission 038798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R0609 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 18463759-18619506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18473179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1628 (T1628I)
Ref Sequence ENSEMBL: ENSMUSP00000149210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019999] [ENSMUST00000215836]
AlphaFold Q3UGY8
Predicted Effect probably benign
Transcript: ENSMUST00000019999
AA Change: T1628I

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: T1628I

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
AA Change: T1628I

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,533,418 (GRCm39) probably null Het
Abcb4 T A 5: 8,997,376 (GRCm39) C952S probably damaging Het
Adamtsl2 A G 2: 26,979,647 (GRCm39) D272G probably benign Het
Aim2 G A 1: 173,289,530 (GRCm39) D158N probably damaging Het
Aldh3b1 C T 19: 3,964,024 (GRCm39) R426H probably damaging Het
Apoc2 A G 7: 19,407,278 (GRCm39) S28P probably benign Het
Atp10a G A 7: 58,469,488 (GRCm39) probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Bmp8b T A 4: 123,015,692 (GRCm39) D226E probably benign Het
Brsk2 T C 7: 141,552,229 (GRCm39) Y618H probably damaging Het
Casp12 T A 9: 5,346,554 (GRCm39) F27Y probably damaging Het
Casp8 T A 1: 58,883,951 (GRCm39) N439K probably benign Het
Ccdc175 T A 12: 72,204,281 (GRCm39) K253N probably benign Het
Cdc42bpa A G 1: 179,867,744 (GRCm39) H193R probably damaging Het
Cdk17 T C 10: 93,052,334 (GRCm39) M105T probably benign Het
Cdon C A 9: 35,389,907 (GRCm39) P854T probably damaging Het
Cep44 A G 8: 56,997,187 (GRCm39) M117T possibly damaging Het
Cep89 A T 7: 35,134,955 (GRCm39) E674D probably damaging Het
Cit C T 5: 116,012,002 (GRCm39) A203V probably damaging Het
Clstn1 C A 4: 149,713,757 (GRCm39) probably null Het
Col7a1 T A 9: 108,787,215 (GRCm39) D565E unknown Het
Cpb1 T A 3: 20,316,638 (GRCm39) Y304F probably damaging Het
Cps1 T G 1: 67,211,961 (GRCm39) Y710D probably damaging Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dars1 A G 1: 128,333,118 (GRCm39) V102A probably benign Het
Dhx35 C T 2: 158,659,335 (GRCm39) T168I possibly damaging Het
Dnah5 T C 15: 28,327,925 (GRCm39) S2100P probably benign Het
Dst T C 1: 34,306,041 (GRCm39) probably null Het
Egflam A C 15: 7,283,004 (GRCm39) L351R possibly damaging Het
Elp2 T A 18: 24,759,213 (GRCm39) D523E probably benign Het
Exo5 C A 4: 120,778,881 (GRCm39) G328V probably damaging Het
Fut9 A G 4: 25,620,811 (GRCm39) M1T probably null Het
Galnt5 A G 2: 57,914,637 (GRCm39) N584S possibly damaging Het
Gbp3 T C 3: 142,273,533 (GRCm39) V360A probably damaging Het
Gdf6 G A 4: 9,859,977 (GRCm39) C353Y probably damaging Het
Hace1 A G 10: 45,524,965 (GRCm39) T244A probably damaging Het
Hr T C 14: 70,797,097 (GRCm39) I500T probably benign Het
Ifnl2 A T 7: 28,208,707 (GRCm39) L115Q probably damaging Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Inhbb A G 1: 119,345,146 (GRCm39) L381P probably damaging Het
Irx3 A T 8: 92,527,721 (GRCm39) S50T probably benign Het
Ivns1abp C T 1: 151,235,896 (GRCm39) T363I probably benign Het
Izumo1 A T 7: 45,272,323 (GRCm39) T35S probably benign Het
Kank4 A G 4: 98,665,342 (GRCm39) S651P probably damaging Het
Kit T C 5: 75,771,539 (GRCm39) V232A probably benign Het
Klhl11 T C 11: 100,354,540 (GRCm39) Y427C probably damaging Het
Laptm4b T A 15: 34,258,835 (GRCm39) N36K probably damaging Het
Lrrk1 T C 7: 65,916,363 (GRCm39) probably null Het
Mamdc4 G T 2: 25,454,205 (GRCm39) Q1042K probably benign Het
Mical2 A G 7: 111,920,647 (GRCm39) probably null Het
Ms4a3 C A 19: 11,608,725 (GRCm39) V176F possibly damaging Het
Myo3a T C 2: 22,338,324 (GRCm39) V427A probably benign Het
Myo3a A C 2: 22,401,110 (GRCm39) E626D possibly damaging Het
Nckap5 A T 1: 125,955,025 (GRCm39) L509* probably null Het
Ndufa5 A T 6: 24,519,248 (GRCm39) D64E possibly damaging Het
Nedd4l T C 18: 65,341,532 (GRCm39) Y753H probably damaging Het
Nynrin T C 14: 56,110,218 (GRCm39) V1775A probably damaging Het
Oplah A G 15: 76,187,192 (GRCm39) S570P probably benign Het
Or14c39 T C 7: 86,344,084 (GRCm39) V140A possibly damaging Het
Or2ag1b A T 7: 106,288,205 (GRCm39) H244Q probably damaging Het
Or4q3 T C 14: 50,583,383 (GRCm39) Y141C probably damaging Het
Or5t18 A G 2: 86,637,205 (GRCm39) L46S probably damaging Het
Or9r3 G A 10: 129,948,449 (GRCm39) S70F probably damaging Het
Osbpl11 C A 16: 33,054,814 (GRCm39) Y632* probably null Het
Osbpl5 A T 7: 143,248,558 (GRCm39) L644Q probably damaging Het
Pcdhb19 T C 18: 37,631,005 (GRCm39) W267R probably benign Het
Pkhd1l1 A C 15: 44,330,820 (GRCm39) S132R possibly damaging Het
Pramel23 A T 4: 143,425,073 (GRCm39) D123E probably benign Het
Ptpn13 T A 5: 103,704,011 (GRCm39) S1348T probably benign Het
Rc3h1 T A 1: 160,757,705 (GRCm39) W8R probably damaging Het
Rgs3 T G 4: 62,544,173 (GRCm39) V315G probably damaging Het
Rora T A 9: 69,269,151 (GRCm39) M82K probably damaging Het
Rph3al T C 11: 75,799,795 (GRCm39) I55V probably benign Het
Sag T C 1: 87,740,713 (GRCm39) V45A probably damaging Het
Scn3a T C 2: 65,366,854 (GRCm39) E56G probably damaging Het
Sec24c T G 14: 20,737,016 (GRCm39) V324G probably damaging Het
Sptbn1 A G 11: 30,088,979 (GRCm39) L748S probably damaging Het
Stard9 A T 2: 120,536,787 (GRCm39) D4186V probably damaging Het
Stk39 T C 2: 68,196,511 (GRCm39) E306G probably damaging Het
Sycp1 C A 3: 102,806,165 (GRCm39) probably null Het
Taf2 A C 15: 54,923,446 (GRCm39) L277R probably damaging Het
Tasor C T 14: 27,183,707 (GRCm39) T722I probably benign Het
Tbc1d23 T A 16: 56,993,469 (GRCm39) I566F possibly damaging Het
Tekt5 T C 16: 10,179,168 (GRCm39) T400A possibly damaging Het
Tgfbrap1 T C 1: 43,099,301 (GRCm39) H401R probably benign Het
Tie1 T A 4: 118,333,344 (GRCm39) I841L possibly damaging Het
Tln1 T G 4: 43,544,645 (GRCm39) T1095P possibly damaging Het
Tmem147 A G 7: 30,427,527 (GRCm39) Y72H probably benign Het
Tnfaip2 A G 12: 111,419,941 (GRCm39) N691S probably benign Het
Trim24 G A 6: 37,934,718 (GRCm39) C811Y probably damaging Het
Trim30b T A 7: 104,007,183 (GRCm39) probably benign Het
Trpc4 T G 3: 54,102,189 (GRCm39) L29R probably damaging Het
Trpm6 A T 19: 18,803,226 (GRCm39) I890F probably damaging Het
Ttc23l C T 15: 10,504,622 (GRCm39) E442K probably benign Het
Tut7 A T 13: 59,947,596 (GRCm39) C506* probably null Het
Uggt2 A G 14: 119,332,748 (GRCm39) V62A probably damaging Het
Ugt1a6a C A 1: 88,066,606 (GRCm39) S137R probably benign Het
Unc13a A G 8: 72,111,111 (GRCm39) Y367H probably damaging Het
Vmn2r49 A G 7: 9,710,233 (GRCm39) I833T probably benign Het
Vmn2r7 T C 3: 64,623,900 (GRCm39) D231G probably benign Het
Ythdc2 A T 18: 44,997,424 (GRCm39) M994L probably benign Het
Zfp804a G A 2: 82,087,932 (GRCm39) S587N probably damaging Het
Zswim2 A G 2: 83,754,003 (GRCm39) I219T probably benign Het
Other mutations in Arfgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Arfgef3 APN 10 18,536,352 (GRCm39) missense probably benign 0.03
IGL00835:Arfgef3 APN 10 18,537,106 (GRCm39) missense probably benign
IGL00961:Arfgef3 APN 10 18,486,985 (GRCm39) missense probably damaging 1.00
IGL01400:Arfgef3 APN 10 18,528,454 (GRCm39) missense probably damaging 1.00
IGL01501:Arfgef3 APN 10 18,476,308 (GRCm39) missense possibly damaging 0.93
IGL01595:Arfgef3 APN 10 18,470,660 (GRCm39) missense possibly damaging 0.93
IGL01695:Arfgef3 APN 10 18,479,167 (GRCm39) missense probably benign 0.00
IGL01774:Arfgef3 APN 10 18,619,363 (GRCm39) missense possibly damaging 0.94
IGL02348:Arfgef3 APN 10 18,467,095 (GRCm39) missense probably benign 0.04
IGL02371:Arfgef3 APN 10 18,522,287 (GRCm39) missense probably benign
IGL02400:Arfgef3 APN 10 18,522,005 (GRCm39) missense probably damaging 1.00
IGL02630:Arfgef3 APN 10 18,537,140 (GRCm39) splice site probably benign
IGL02815:Arfgef3 APN 10 18,528,299 (GRCm39) missense probably damaging 1.00
IGL03178:Arfgef3 APN 10 18,488,973 (GRCm39) missense probably damaging 1.00
IGL03182:Arfgef3 APN 10 18,476,292 (GRCm39) missense probably damaging 1.00
IGL03267:Arfgef3 APN 10 18,467,630 (GRCm39) missense probably damaging 1.00
IGL03294:Arfgef3 APN 10 18,540,660 (GRCm39) missense probably damaging 0.97
IGL03410:Arfgef3 APN 10 18,476,238 (GRCm39) missense probably damaging 1.00
Bow-wow UTSW 10 18,522,478 (GRCm39) nonsense probably null
R0098:Arfgef3 UTSW 10 18,465,390 (GRCm39) missense probably damaging 1.00
R0098:Arfgef3 UTSW 10 18,465,390 (GRCm39) missense probably damaging 1.00
R0141:Arfgef3 UTSW 10 18,473,155 (GRCm39) missense probably damaging 1.00
R0164:Arfgef3 UTSW 10 18,523,663 (GRCm39) missense possibly damaging 0.77
R0164:Arfgef3 UTSW 10 18,523,663 (GRCm39) missense possibly damaging 0.77
R0241:Arfgef3 UTSW 10 18,474,962 (GRCm39) missense probably damaging 1.00
R0334:Arfgef3 UTSW 10 18,468,029 (GRCm39) missense probably damaging 0.98
R0352:Arfgef3 UTSW 10 18,537,135 (GRCm39) missense probably benign 0.17
R0415:Arfgef3 UTSW 10 18,488,875 (GRCm39) splice site probably benign
R0417:Arfgef3 UTSW 10 18,479,259 (GRCm39) missense probably damaging 1.00
R0442:Arfgef3 UTSW 10 18,553,563 (GRCm39) splice site probably benign
R0507:Arfgef3 UTSW 10 18,467,369 (GRCm39) missense probably damaging 1.00
R0573:Arfgef3 UTSW 10 18,475,036 (GRCm39) missense probably damaging 1.00
R0582:Arfgef3 UTSW 10 18,487,038 (GRCm39) missense probably damaging 1.00
R0826:Arfgef3 UTSW 10 18,465,414 (GRCm39) missense probably damaging 0.98
R0919:Arfgef3 UTSW 10 18,465,483 (GRCm39) missense possibly damaging 0.89
R0980:Arfgef3 UTSW 10 18,467,866 (GRCm39) missense possibly damaging 0.82
R1027:Arfgef3 UTSW 10 18,467,123 (GRCm39) missense probably benign 0.02
R1140:Arfgef3 UTSW 10 18,473,096 (GRCm39) missense possibly damaging 0.77
R1491:Arfgef3 UTSW 10 18,522,302 (GRCm39) missense probably damaging 1.00
R1493:Arfgef3 UTSW 10 18,506,627 (GRCm39) missense probably damaging 0.96
R1529:Arfgef3 UTSW 10 18,488,970 (GRCm39) nonsense probably null
R1564:Arfgef3 UTSW 10 18,467,452 (GRCm39) missense probably damaging 1.00
R1654:Arfgef3 UTSW 10 18,500,896 (GRCm39) missense probably null 0.15
R1868:Arfgef3 UTSW 10 18,537,135 (GRCm39) missense probably benign 0.17
R1876:Arfgef3 UTSW 10 18,473,104 (GRCm39) missense probably damaging 1.00
R1908:Arfgef3 UTSW 10 18,528,511 (GRCm39) missense possibly damaging 0.80
R2211:Arfgef3 UTSW 10 18,467,993 (GRCm39) missense possibly damaging 0.54
R2316:Arfgef3 UTSW 10 18,492,701 (GRCm39) missense probably benign 0.19
R2393:Arfgef3 UTSW 10 18,473,535 (GRCm39) missense possibly damaging 0.88
R2407:Arfgef3 UTSW 10 18,553,614 (GRCm39) missense possibly damaging 0.63
R3076:Arfgef3 UTSW 10 18,479,278 (GRCm39) missense probably damaging 0.99
R3077:Arfgef3 UTSW 10 18,479,278 (GRCm39) missense probably damaging 0.99
R3963:Arfgef3 UTSW 10 18,468,025 (GRCm39) missense probably damaging 1.00
R4201:Arfgef3 UTSW 10 18,495,530 (GRCm39) missense probably benign 0.01
R4241:Arfgef3 UTSW 10 18,500,912 (GRCm39) missense probably damaging 1.00
R4244:Arfgef3 UTSW 10 18,506,168 (GRCm39) missense probably damaging 1.00
R4395:Arfgef3 UTSW 10 18,473,457 (GRCm39) missense probably damaging 1.00
R4455:Arfgef3 UTSW 10 18,483,423 (GRCm39) missense probably benign 0.18
R4480:Arfgef3 UTSW 10 18,476,348 (GRCm39) missense probably damaging 1.00
R4499:Arfgef3 UTSW 10 18,484,091 (GRCm39) missense possibly damaging 0.95
R4589:Arfgef3 UTSW 10 18,521,947 (GRCm39) missense probably damaging 1.00
R4635:Arfgef3 UTSW 10 18,510,603 (GRCm39) missense probably damaging 1.00
R4776:Arfgef3 UTSW 10 18,529,995 (GRCm39) missense probably benign
R4801:Arfgef3 UTSW 10 18,467,654 (GRCm39) missense probably benign 0.00
R4802:Arfgef3 UTSW 10 18,467,654 (GRCm39) missense probably benign 0.00
R4807:Arfgef3 UTSW 10 18,522,385 (GRCm39) missense probably benign
R4828:Arfgef3 UTSW 10 18,528,441 (GRCm39) missense probably damaging 0.99
R4861:Arfgef3 UTSW 10 18,483,479 (GRCm39) missense probably benign 0.01
R4861:Arfgef3 UTSW 10 18,483,479 (GRCm39) missense probably benign 0.01
R4917:Arfgef3 UTSW 10 18,492,638 (GRCm39) missense probably damaging 0.99
R4918:Arfgef3 UTSW 10 18,492,638 (GRCm39) missense probably damaging 0.99
R4922:Arfgef3 UTSW 10 18,467,934 (GRCm39) missense probably damaging 0.97
R4929:Arfgef3 UTSW 10 18,506,599 (GRCm39) missense probably benign 0.00
R4937:Arfgef3 UTSW 10 18,465,454 (GRCm39) missense probably damaging 0.98
R5290:Arfgef3 UTSW 10 18,476,208 (GRCm39) missense probably damaging 1.00
R5410:Arfgef3 UTSW 10 18,486,985 (GRCm39) missense probably damaging 0.99
R5807:Arfgef3 UTSW 10 18,523,546 (GRCm39) splice site probably null
R5832:Arfgef3 UTSW 10 18,506,168 (GRCm39) missense probably damaging 1.00
R5887:Arfgef3 UTSW 10 18,483,413 (GRCm39) nonsense probably null
R6272:Arfgef3 UTSW 10 18,522,711 (GRCm39) missense probably benign 0.00
R6302:Arfgef3 UTSW 10 18,528,589 (GRCm39) missense probably damaging 0.97
R6397:Arfgef3 UTSW 10 18,483,413 (GRCm39) nonsense probably null
R6495:Arfgef3 UTSW 10 18,486,950 (GRCm39) critical splice donor site probably null
R6707:Arfgef3 UTSW 10 18,496,903 (GRCm39) missense probably benign 0.11
R6814:Arfgef3 UTSW 10 18,470,767 (GRCm39) missense probably damaging 1.00
R6830:Arfgef3 UTSW 10 18,540,637 (GRCm39) critical splice donor site probably null
R6870:Arfgef3 UTSW 10 18,522,478 (GRCm39) nonsense probably null
R6941:Arfgef3 UTSW 10 18,501,203 (GRCm39) missense possibly damaging 0.66
R7094:Arfgef3 UTSW 10 18,522,187 (GRCm39) missense probably damaging 1.00
R7179:Arfgef3 UTSW 10 18,475,015 (GRCm39) missense probably damaging 1.00
R7204:Arfgef3 UTSW 10 18,522,210 (GRCm39) missense probably damaging 1.00
R7247:Arfgef3 UTSW 10 18,501,139 (GRCm39) missense probably benign 0.00
R7249:Arfgef3 UTSW 10 18,506,583 (GRCm39) missense possibly damaging 0.62
R7318:Arfgef3 UTSW 10 18,506,211 (GRCm39) missense possibly damaging 0.89
R7391:Arfgef3 UTSW 10 18,522,007 (GRCm39) missense probably benign 0.05
R7527:Arfgef3 UTSW 10 18,522,377 (GRCm39) missense probably benign
R7618:Arfgef3 UTSW 10 18,522,029 (GRCm39) missense probably damaging 1.00
R7779:Arfgef3 UTSW 10 18,470,771 (GRCm39) missense probably damaging 0.99
R7851:Arfgef3 UTSW 10 18,468,034 (GRCm39) missense probably damaging 1.00
R8112:Arfgef3 UTSW 10 18,528,379 (GRCm39) missense possibly damaging 0.96
R8133:Arfgef3 UTSW 10 18,486,951 (GRCm39) critical splice donor site probably null
R8242:Arfgef3 UTSW 10 18,505,824 (GRCm39) missense probably benign 0.25
R8369:Arfgef3 UTSW 10 18,465,477 (GRCm39) missense probably benign 0.34
R8396:Arfgef3 UTSW 10 18,528,280 (GRCm39) critical splice donor site probably null
R8553:Arfgef3 UTSW 10 18,479,278 (GRCm39) missense probably damaging 0.99
R8798:Arfgef3 UTSW 10 18,522,799 (GRCm39) missense probably damaging 1.00
R8821:Arfgef3 UTSW 10 18,528,491 (GRCm39) missense possibly damaging 0.95
R8831:Arfgef3 UTSW 10 18,528,491 (GRCm39) missense possibly damaging 0.95
R8918:Arfgef3 UTSW 10 18,511,453 (GRCm39) missense probably benign 0.01
R8929:Arfgef3 UTSW 10 18,479,203 (GRCm39) missense probably damaging 1.00
R9001:Arfgef3 UTSW 10 18,522,476 (GRCm39) missense probably benign 0.32
R9077:Arfgef3 UTSW 10 18,500,899 (GRCm39) missense possibly damaging 0.81
R9258:Arfgef3 UTSW 10 18,465,387 (GRCm39) missense probably damaging 1.00
R9267:Arfgef3 UTSW 10 18,475,028 (GRCm39) missense probably damaging 1.00
R9358:Arfgef3 UTSW 10 18,492,628 (GRCm39) missense probably damaging 1.00
R9388:Arfgef3 UTSW 10 18,505,877 (GRCm39) missense probably benign 0.35
R9389:Arfgef3 UTSW 10 18,479,271 (GRCm39) missense probably damaging 1.00
R9563:Arfgef3 UTSW 10 18,522,275 (GRCm39) missense probably damaging 1.00
R9713:Arfgef3 UTSW 10 18,528,556 (GRCm39) missense probably damaging 1.00
X0026:Arfgef3 UTSW 10 18,528,374 (GRCm39) missense probably damaging 1.00
Z1176:Arfgef3 UTSW 10 18,510,600 (GRCm39) missense probably benign 0.26
Z1176:Arfgef3 UTSW 10 18,484,106 (GRCm39) missense probably damaging 0.97
Z1176:Arfgef3 UTSW 10 18,467,185 (GRCm39) missense probably damaging 1.00
Z1177:Arfgef3 UTSW 10 18,503,376 (GRCm39) missense probably damaging 1.00
Z1177:Arfgef3 UTSW 10 18,483,524 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTAGCTCCTGGAGTGCCCAAC -3'
(R):5'- CACCCTCAAGCCAGTGAAGGTAAG -3'

Sequencing Primer
(F):5'- GGAGTGCCCAACACCCAC -3'
(R):5'- AGGCTTGGTCAGTCTGAACAC -3'
Posted On 2013-07-11