Incidental Mutation 'R2148:Arfgef1'
ID 233969
Institutional Source Beutler Lab
Gene Symbol Arfgef1
Ensembl Gene ENSMUSG00000067851
Gene Name ADP ribosylation factor guanine nucleotide exchange factor 1
Synonyms D730028O18Rik, D130059B05Rik, BIG1, P200, ARFGEP1
MMRRC Submission 040151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2148 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 10207796-10302895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10270103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 349 (A349T)
Ref Sequence ENSEMBL: ENSMUSP00000118805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]
AlphaFold G3X9K3
Predicted Effect probably benign
Transcript: ENSMUST00000088615
AA Change: A349T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: A349T

DomainStartEndE-ValueType
Pfam:DCB 28 213 5.2e-45 PFAM
low complexity region 221 233 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Pfam:Sec7_N 416 575 1.3e-52 PFAM
Blast:Sec7 588 637 6e-24 BLAST
low complexity region 661 681 N/A INTRINSIC
Sec7 692 879 1.15e-105 SMART
Blast:Sec7 897 933 6e-13 BLAST
Blast:Sec7 947 986 8e-18 BLAST
Pfam:DUF1981 1217 1300 3.6e-39 PFAM
low complexity region 1587 1602 N/A INTRINSIC
low complexity region 1777 1782 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131556
AA Change: A349T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: A349T

DomainStartEndE-ValueType
coiled coil region 207 234 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Pfam:Sec7_N 413 576 3.1e-59 PFAM
Blast:Sec7 588 637 2e-24 BLAST
low complexity region 661 681 N/A INTRINSIC
Sec7 692 879 1.15e-105 SMART
Blast:Sec7 897 933 3e-13 BLAST
Blast:Sec7 947 986 2e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192111
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Actn2 A T 13: 12,315,835 (GRCm39) M228K probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Ahi1 T G 10: 20,846,875 (GRCm39) V435G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign Het
Other mutations in Arfgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Arfgef1 APN 1 10,270,012 (GRCm39) missense probably benign
IGL00919:Arfgef1 APN 1 10,243,462 (GRCm39) missense probably damaging 1.00
IGL01022:Arfgef1 APN 1 10,244,301 (GRCm39) missense probably damaging 1.00
IGL01155:Arfgef1 APN 1 10,269,207 (GRCm39) splice site probably benign
IGL01288:Arfgef1 APN 1 10,283,436 (GRCm39) missense possibly damaging 0.67
IGL01397:Arfgef1 APN 1 10,229,796 (GRCm39) missense probably benign 0.40
IGL01433:Arfgef1 APN 1 10,223,657 (GRCm39) missense probably damaging 1.00
IGL01653:Arfgef1 APN 1 10,230,133 (GRCm39) nonsense probably null
IGL01669:Arfgef1 APN 1 10,229,840 (GRCm39) missense probably damaging 1.00
IGL01795:Arfgef1 APN 1 10,217,753 (GRCm39) missense probably benign 0.01
IGL01860:Arfgef1 APN 1 10,224,621 (GRCm39) missense probably damaging 1.00
IGL02137:Arfgef1 APN 1 10,283,338 (GRCm39) missense probably damaging 1.00
IGL02365:Arfgef1 APN 1 10,270,108 (GRCm39) missense probably benign 0.00
IGL02519:Arfgef1 APN 1 10,279,893 (GRCm39) missense probably benign 0.13
IGL02542:Arfgef1 APN 1 10,243,067 (GRCm39) missense probably benign 0.24
IGL02604:Arfgef1 APN 1 10,251,275 (GRCm39) splice site probably benign
IGL02743:Arfgef1 APN 1 10,270,054 (GRCm39) missense probably benign 0.00
IGL03225:Arfgef1 APN 1 10,224,543 (GRCm39) missense probably damaging 1.00
Collected UTSW 1 10,251,163 (GRCm39) missense probably damaging 1.00
uncle_joe UTSW 1 10,231,060 (GRCm39) missense probably damaging 1.00
G1Funyon:Arfgef1 UTSW 1 10,250,058 (GRCm39) missense probably damaging 1.00
I2288:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
I2289:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
R0383:Arfgef1 UTSW 1 10,269,067 (GRCm39) critical splice donor site probably null
R0491:Arfgef1 UTSW 1 10,250,212 (GRCm39) splice site probably benign
R0636:Arfgef1 UTSW 1 10,270,076 (GRCm39) missense probably benign
R1006:Arfgef1 UTSW 1 10,210,706 (GRCm39) missense probably benign 0.00
R1212:Arfgef1 UTSW 1 10,286,784 (GRCm39) missense probably benign 0.05
R1233:Arfgef1 UTSW 1 10,254,315 (GRCm39) missense probably damaging 1.00
R1346:Arfgef1 UTSW 1 10,229,958 (GRCm39) missense probably benign 0.41
R1416:Arfgef1 UTSW 1 10,243,164 (GRCm39) missense probably damaging 1.00
R1477:Arfgef1 UTSW 1 10,259,509 (GRCm39) missense probably damaging 1.00
R1581:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R1587:Arfgef1 UTSW 1 10,230,184 (GRCm39) missense probably damaging 0.99
R1602:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1745:Arfgef1 UTSW 1 10,243,480 (GRCm39) missense probably damaging 1.00
R1831:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1832:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1833:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1918:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R1919:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2059:Arfgef1 UTSW 1 10,258,977 (GRCm39) splice site probably null
R2146:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2149:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2150:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2373:Arfgef1 UTSW 1 10,244,367 (GRCm39) missense probably damaging 1.00
R2516:Arfgef1 UTSW 1 10,223,879 (GRCm39) missense possibly damaging 0.89
R3863:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3916:Arfgef1 UTSW 1 10,259,668 (GRCm39) missense probably benign 0.01
R3948:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3949:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3977:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R3978:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R3979:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R4086:Arfgef1 UTSW 1 10,233,984 (GRCm39) missense probably benign 0.06
R4175:Arfgef1 UTSW 1 10,229,861 (GRCm39) missense probably damaging 1.00
R4257:Arfgef1 UTSW 1 10,229,771 (GRCm39) intron probably benign
R4572:Arfgef1 UTSW 1 10,283,366 (GRCm39) missense probably damaging 1.00
R4652:Arfgef1 UTSW 1 10,243,487 (GRCm39) missense probably damaging 0.98
R4678:Arfgef1 UTSW 1 10,212,891 (GRCm39) missense probably benign 0.03
R4737:Arfgef1 UTSW 1 10,259,836 (GRCm39) missense possibly damaging 0.85
R4779:Arfgef1 UTSW 1 10,223,958 (GRCm39) missense probably damaging 1.00
R4818:Arfgef1 UTSW 1 10,286,772 (GRCm39) missense probably benign
R4898:Arfgef1 UTSW 1 10,229,798 (GRCm39) missense possibly damaging 0.75
R4979:Arfgef1 UTSW 1 10,283,334 (GRCm39) missense probably damaging 1.00
R5039:Arfgef1 UTSW 1 10,269,961 (GRCm39) missense probably benign 0.37
R5194:Arfgef1 UTSW 1 10,275,132 (GRCm39) missense probably benign 0.09
R5428:Arfgef1 UTSW 1 10,231,060 (GRCm39) missense probably damaging 1.00
R5533:Arfgef1 UTSW 1 10,269,952 (GRCm39) critical splice donor site probably null
R5547:Arfgef1 UTSW 1 10,231,201 (GRCm39) missense probably damaging 1.00
R5562:Arfgef1 UTSW 1 10,214,971 (GRCm39) missense probably damaging 1.00
R5635:Arfgef1 UTSW 1 10,259,085 (GRCm39) missense possibly damaging 0.81
R5697:Arfgef1 UTSW 1 10,231,063 (GRCm39) missense probably benign 0.03
R5704:Arfgef1 UTSW 1 10,229,808 (GRCm39) missense probably damaging 0.98
R5722:Arfgef1 UTSW 1 10,209,109 (GRCm39) missense probably benign 0.04
R5793:Arfgef1 UTSW 1 10,279,753 (GRCm39) missense probably benign 0.01
R5835:Arfgef1 UTSW 1 10,230,964 (GRCm39) missense probably damaging 1.00
R5870:Arfgef1 UTSW 1 10,251,163 (GRCm39) missense probably damaging 1.00
R5990:Arfgef1 UTSW 1 10,243,146 (GRCm39) missense probably damaging 0.99
R6290:Arfgef1 UTSW 1 10,259,036 (GRCm39) missense possibly damaging 0.91
R6460:Arfgef1 UTSW 1 10,283,285 (GRCm39) missense probably damaging 1.00
R6613:Arfgef1 UTSW 1 10,264,621 (GRCm39) missense possibly damaging 0.95
R6802:Arfgef1 UTSW 1 10,259,677 (GRCm39) missense probably benign 0.35
R6967:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6967:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6968:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6968:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6969:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6969:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6970:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6970:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R7092:Arfgef1 UTSW 1 10,223,901 (GRCm39) missense probably damaging 1.00
R7251:Arfgef1 UTSW 1 10,269,200 (GRCm39) missense possibly damaging 0.81
R7334:Arfgef1 UTSW 1 10,254,685 (GRCm39) missense probably damaging 1.00
R7399:Arfgef1 UTSW 1 10,251,122 (GRCm39) missense probably benign 0.00
R7631:Arfgef1 UTSW 1 10,302,694 (GRCm39) missense probably benign 0.00
R7699:Arfgef1 UTSW 1 10,264,636 (GRCm39) missense possibly damaging 0.78
R7700:Arfgef1 UTSW 1 10,264,636 (GRCm39) missense possibly damaging 0.78
R7772:Arfgef1 UTSW 1 10,227,235 (GRCm39) missense possibly damaging 0.96
R7968:Arfgef1 UTSW 1 10,243,145 (GRCm39) missense probably damaging 1.00
R8195:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
R8292:Arfgef1 UTSW 1 10,227,194 (GRCm39) missense probably benign 0.06
R8301:Arfgef1 UTSW 1 10,250,058 (GRCm39) missense probably damaging 1.00
R8341:Arfgef1 UTSW 1 10,224,553 (GRCm39) missense probably benign 0.37
R8410:Arfgef1 UTSW 1 10,229,867 (GRCm39) missense possibly damaging 0.94
R8411:Arfgef1 UTSW 1 10,286,759 (GRCm39) missense probably benign 0.01
R8793:Arfgef1 UTSW 1 10,212,832 (GRCm39) missense possibly damaging 0.95
R8903:Arfgef1 UTSW 1 10,211,838 (GRCm39) missense probably damaging 1.00
R8955:Arfgef1 UTSW 1 10,270,062 (GRCm39) missense probably benign 0.25
R9036:Arfgef1 UTSW 1 10,259,055 (GRCm39) missense probably benign 0.01
R9185:Arfgef1 UTSW 1 10,215,004 (GRCm39) missense probably damaging 1.00
R9252:Arfgef1 UTSW 1 10,243,122 (GRCm39) nonsense probably null
R9333:Arfgef1 UTSW 1 10,222,037 (GRCm39) nonsense probably null
R9335:Arfgef1 UTSW 1 10,228,236 (GRCm39) missense probably damaging 1.00
R9348:Arfgef1 UTSW 1 10,283,419 (GRCm39) missense probably benign 0.03
R9355:Arfgef1 UTSW 1 10,270,000 (GRCm39) missense probably benign 0.00
R9564:Arfgef1 UTSW 1 10,217,758 (GRCm39) missense probably benign 0.00
R9600:Arfgef1 UTSW 1 10,233,977 (GRCm39) missense probably benign 0.01
R9789:Arfgef1 UTSW 1 10,243,427 (GRCm39) missense probably damaging 1.00
V1662:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCAAGTTACTGGCAGACC -3'
(R):5'- TAGACCATGTTGGGAAGCATAC -3'

Sequencing Primer
(F):5'- TGGCAGACCATCCATTTCC -3'
(R):5'- CCATGTTGGGAAGCATACTAAATAG -3'
Posted On 2014-10-01