Incidental Mutation 'R5290:Arfgef3'
ID 424665
Institutional Source Beutler Lab
Gene Symbol Arfgef3
Ensembl Gene ENSMUSG00000019852
Gene Name ARFGEF family member 3
Synonyms B930094H20Rik, BIG3, D10Bwg1379e
MMRRC Submission 042873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5290 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 18463759-18619506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18476208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1537 (E1537G)
Ref Sequence ENSEMBL: ENSMUSP00000149210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019999] [ENSMUST00000215836]
AlphaFold Q3UGY8
Predicted Effect probably damaging
Transcript: ENSMUST00000019999
AA Change: E1537G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: E1537G

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 damaging
Transcript: ENSMUST00000215836
AA Change: E1537G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7826 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (70/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A T 16: 90,351,098 (GRCm39) noncoding transcript Het
2700049A03Rik C A 12: 71,235,565 (GRCm39) P1172T probably benign Het
Abi3bp T A 16: 56,462,838 (GRCm39) probably null Het
Apod T A 16: 31,129,884 (GRCm39) H24L probably damaging Het
B020004C17Rik T C 14: 57,254,036 (GRCm39) V53A possibly damaging Het
Ccdc113 C A 8: 96,267,424 (GRCm39) probably null Het
Cd7 T G 11: 120,928,936 (GRCm39) D105A probably damaging Het
Celsr3 C T 9: 108,720,357 (GRCm39) T2550M probably benign Het
Cibar1 T C 4: 12,171,195 (GRCm39) Q86R probably benign Het
Col6a5 C T 9: 105,823,282 (GRCm39) G25D unknown Het
Cps1 A G 1: 67,211,868 (GRCm39) M679V probably benign Het
Dnai4 A T 4: 102,906,730 (GRCm39) D694E probably benign Het
Dync1h1 A T 12: 110,581,502 (GRCm39) T316S probably benign Het
Edrf1 T C 7: 133,252,295 (GRCm39) Y449H probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flg2 A T 3: 93,127,873 (GRCm39) I2262L unknown Het
Flnc T C 6: 29,457,553 (GRCm39) L2417P probably damaging Het
Gabrp A T 11: 33,517,310 (GRCm39) Y121N probably damaging Het
Gdpd4 A G 7: 97,615,543 (GRCm39) T123A possibly damaging Het
Gpr162 C A 6: 124,838,232 (GRCm39) M139I probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gsn G A 2: 35,186,484 (GRCm39) S410N probably benign Het
Gtf2f2 T C 14: 76,135,089 (GRCm39) Y212C probably damaging Het
Hao2 C T 3: 98,784,493 (GRCm39) A291T probably damaging Het
Igkv1-133 A G 6: 67,702,563 (GRCm39) T94A possibly damaging Het
Irf2bp1 G A 7: 18,738,923 (GRCm39) A188T possibly damaging Het
Itpr1 T C 6: 108,383,106 (GRCm39) V1478A possibly damaging Het
Kdm5b T C 1: 134,549,837 (GRCm39) probably null Het
Kif5b A T 18: 6,234,882 (GRCm39) D49E probably damaging Het
Lmbr1l A G 15: 98,810,123 (GRCm39) W113R probably damaging Het
Lrp2 T C 2: 69,343,698 (GRCm39) D887G probably damaging Het
Lrrc14 T A 15: 76,598,143 (GRCm39) M291K probably benign Het
Lypd11 T C 7: 24,422,836 (GRCm39) E79G probably benign Het
Mgarp G A 3: 51,296,387 (GRCm39) A205V possibly damaging Het
Msl2 T C 9: 100,978,606 (GRCm39) probably null Het
Nfix G A 8: 85,440,406 (GRCm39) Q487* probably null Het
Notch4 T C 17: 34,784,263 (GRCm39) V22A probably benign Het
Npc1l1 T A 11: 6,172,221 (GRCm39) Q823L probably benign Het
Obox3 T C 7: 15,360,774 (GRCm39) K122E probably benign Het
Or10ab5 C T 7: 108,245,755 (GRCm39) M9I probably benign Het
Or2a12 A G 6: 42,904,972 (GRCm39) K269R probably damaging Het
Or8s10 T C 15: 98,336,213 (GRCm39) Y288H probably damaging Het
Plekhh3 T A 11: 101,057,397 (GRCm39) M287L possibly damaging Het
Prpf3 A T 3: 95,760,857 (GRCm39) I15K probably benign Het
Rpl12-ps1 G T 1: 36,997,423 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Setd2 T C 9: 110,446,899 (GRCm39) V2489A probably damaging Het
Slfn10-ps T A 11: 82,919,851 (GRCm39) noncoding transcript Het
Smad2 C T 18: 76,395,795 (GRCm39) P78L probably damaging Het
Spen G A 4: 141,201,127 (GRCm39) T2500I probably damaging Het
Stmnd1 A G 13: 46,453,074 (GRCm39) D250G probably benign Het
Tjp2 T G 19: 24,108,568 (GRCm39) E181D probably benign Het
Tmem131l T C 3: 83,806,572 (GRCm39) D1478G probably benign Het
Trim72 G T 7: 127,609,176 (GRCm39) R326L probably benign Het
Ttn A T 2: 76,727,584 (GRCm39) probably benign Het
Vmn1r177 A T 7: 23,565,498 (GRCm39) M126K probably damaging Het
Vmn1r57 A G 7: 5,224,319 (GRCm39) I281M probably damaging Het
Vmn2r108 C A 17: 20,691,665 (GRCm39) R286L probably benign Het
Wdr25 T C 12: 108,863,968 (GRCm39) S38P probably benign Het
Zfp937 T A 2: 150,080,229 (GRCm39) Y86* probably null Het
Zfr2 CTCAGACTGGTGTCAGAC CTCAGAC 10: 81,082,544 (GRCm39) probably null Het
Zswim1 C T 2: 164,667,845 (GRCm39) H366Y probably damaging 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
R0609:Arfgef3 UTSW 10 18,473,179 (GRCm39) missense probably benign 0.31
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
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'- TCTGCATACTCTGGCTATGAGG -3'
(R):5'- GGAATGGTAATTCTGACCCTCC -3'

Sequencing Primer
(F):5'- GCTGTGTATTTGAATAAGCCTTTCC -3'
(R):5'- AATGGTAATTCTGACCCTCCTCTTTC -3'
Posted On 2016-08-04