Incidental Mutation 'R1463:Gbf1'
ID 159280
Institutional Source Beutler Lab
Gene Symbol Gbf1
Ensembl Gene ENSMUSG00000025224
Gene Name golgi-specific brefeldin A-resistance factor 1
Synonyms 1700083E03Rik
MMRRC Submission 039517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1463 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46140948-46274949 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 46259984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026254] [ENSMUST00000176992]
AlphaFold Q6DFZ1
Predicted Effect probably benign
Transcript: ENSMUST00000026254
SMART Domains Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224

DomainStartEndE-ValueType
low complexity region 270 288 N/A INTRINSIC
Pfam:Sec7_N 400 551 3.4e-29 PFAM
Sec7 696 884 8.55e-91 SMART
low complexity region 1198 1216 N/A INTRINSIC
low complexity region 1281 1296 N/A INTRINSIC
low complexity region 1773 1793 N/A INTRINSIC
low complexity region 1802 1820 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176853
Predicted Effect probably benign
Transcript: ENSMUST00000176992
SMART Domains Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224

DomainStartEndE-ValueType
low complexity region 216 234 N/A INTRINSIC
Pfam:Sec7_N 343 498 1.5e-35 PFAM
Sec7 642 830 8.55e-91 SMART
low complexity region 1144 1162 N/A INTRINSIC
low complexity region 1227 1242 N/A INTRINSIC
low complexity region 1715 1735 N/A INTRINSIC
low complexity region 1744 1762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177406
Predicted Effect probably benign
Transcript: ENSMUST00000177512
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 97% (97/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,384 (GRCm39) I299N probably damaging Het
Abcc8 T C 7: 45,803,936 (GRCm39) T413A probably benign Het
Actc1 G A 2: 113,880,010 (GRCm39) S201F probably damaging Het
Adam30 G A 3: 98,069,841 (GRCm39) C558Y probably damaging Het
Adcy4 T A 14: 56,016,396 (GRCm39) I352F probably damaging Het
Adgrl4 A T 3: 151,216,233 (GRCm39) D472V probably damaging Het
Afap1l2 T A 19: 56,918,583 (GRCm39) M117L probably benign Het
AI597479 T C 1: 43,152,389 (GRCm39) V229A probably damaging Het
Ascc1 T C 10: 59,898,338 (GRCm39) V267A probably benign Het
Asxl3 A G 18: 22,649,810 (GRCm39) S600G possibly damaging Het
Atg14 T C 14: 47,786,451 (GRCm39) I268V probably benign Het
Bcas1 C T 2: 170,260,584 (GRCm39) V32I probably benign Het
Cacna1c G T 6: 118,570,955 (GRCm39) D2106E probably benign Het
Cacna1i A G 15: 80,263,255 (GRCm39) H1440R possibly damaging Het
Catsper2 G A 2: 121,236,927 (GRCm39) T240M probably damaging Het
Ccn4 T A 15: 66,791,120 (GRCm39) N307K possibly damaging Het
Cd163 A G 6: 124,288,406 (GRCm39) E279G probably damaging Het
Cdx2 C T 5: 147,243,470 (GRCm39) S108N probably benign Het
Cenpf A T 1: 189,386,936 (GRCm39) N1781K probably damaging Het
Cgref1 T A 5: 31,093,338 (GRCm39) probably benign Het
Clcn4 C T 7: 7,299,763 (GRCm39) W22* probably null Het
Cntn2 A G 1: 132,448,875 (GRCm39) probably null Het
Cntn5 C T 9: 9,673,801 (GRCm39) probably null Het
Cpeb3 A G 19: 37,116,500 (GRCm39) M377T probably benign Het
Cryge T A 1: 65,087,997 (GRCm39) R135* probably null Het
Ctdsp2 C A 10: 126,829,790 (GRCm39) probably benign Het
Ctsll3 G A 13: 60,949,089 (GRCm39) probably benign Het
Cuzd1 C A 7: 130,918,371 (GRCm39) G189C probably damaging Het
Dmbt1 T A 7: 130,711,366 (GRCm39) probably null Het
Dnai4 T A 4: 102,944,615 (GRCm39) L245F possibly damaging Het
Dnajc13 A T 9: 104,056,139 (GRCm39) S1587R probably damaging Het
Dock4 GCTCAGTGTATC GC 12: 40,866,324 (GRCm39) probably null Het
Dock6 T C 9: 21,743,202 (GRCm39) H701R probably damaging Het
Edem3 A G 1: 151,683,261 (GRCm39) T646A possibly damaging Het
Esrra A C 19: 6,889,823 (GRCm39) D160E probably benign Het
Fbn2 T C 18: 58,143,452 (GRCm39) T2868A probably benign Het
Galnt7 T A 8: 58,105,892 (GRCm39) M41L probably benign Het
Glyat A G 19: 12,625,467 (GRCm39) N63S probably damaging Het
Gm9376 A T 14: 118,504,894 (GRCm39) M109L probably benign Het
H2-M10.3 A G 17: 36,677,612 (GRCm39) V222A probably damaging Het
Ifna12 T G 4: 88,521,193 (GRCm39) D118A possibly damaging Het
Inpp5j T C 11: 3,451,147 (GRCm39) M501V probably benign Het
Itpr3 C T 17: 27,336,128 (GRCm39) probably benign Het
Ivns1abp A G 1: 151,237,291 (GRCm39) N527S probably benign Het
Kif13a T C 13: 47,083,088 (GRCm39) T4A possibly damaging Het
Kif3b T C 2: 153,172,073 (GRCm39) *748Q probably null Het
Klf8 C T X: 152,167,677 (GRCm39) Q241* probably null Het
Kras A T 6: 145,170,787 (GRCm39) probably benign Het
Lamc3 C A 2: 31,777,423 (GRCm39) T23K probably benign Het
Lrrc74b T A 16: 17,377,737 (GRCm39) H47L probably benign Het
Ly75 A G 2: 60,199,101 (GRCm39) probably null Het
Map3k21 G A 8: 126,668,876 (GRCm39) G821S probably benign Het
Mettl14 A G 3: 123,167,722 (GRCm39) probably benign Het
Mettl5 T C 2: 69,715,590 (GRCm39) probably benign Het
Mier3 A G 13: 111,848,289 (GRCm39) D301G probably damaging Het
Mipep T C 14: 61,025,595 (GRCm39) probably benign Het
Mmp21 T C 7: 133,277,588 (GRCm39) probably null Het
Msh4 A G 3: 153,563,207 (GRCm39) L723P probably damaging Het
Muc5b T C 7: 141,412,817 (GRCm39) V1921A unknown Het
Myo1e G A 9: 70,246,038 (GRCm39) E410K possibly damaging Het
Nav2 T G 7: 49,185,710 (GRCm39) I951S probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Or10j3 A G 1: 173,030,934 (GRCm39) K4E probably benign Het
Or2ab1 A G 11: 58,488,947 (GRCm39) R242G probably damaging Het
Or5a3 C T 19: 12,400,252 (GRCm39) T193I probably benign Het
Pacc1 T C 1: 191,060,486 (GRCm39) probably benign Het
Patl2 C T 2: 121,954,216 (GRCm39) V452M probably benign Het
Pcdh18 A G 3: 49,709,854 (GRCm39) V487A probably damaging Het
Pdzph1 C T 17: 59,239,440 (GRCm39) A963T probably damaging Het
Pkd1l1 C T 11: 8,866,302 (GRCm39) V518M probably damaging Het
Plcd3 A G 11: 102,969,199 (GRCm39) F256S probably damaging Het
Proc T C 18: 32,266,491 (GRCm39) D112G possibly damaging Het
Ptges2 T A 2: 32,290,874 (GRCm39) probably null Het
Pth2r A T 1: 65,402,436 (GRCm39) R312W probably damaging Het
Pttg1ip2 C A 5: 5,502,073 (GRCm39) probably benign Het
Rbbp6 C T 7: 122,591,676 (GRCm39) H546Y possibly damaging Het
Retreg2 A G 1: 75,123,164 (GRCm39) E364G probably damaging Het
Rxrb G A 17: 34,253,134 (GRCm39) C185Y probably damaging Het
Septin2 T A 1: 93,427,037 (GRCm39) N133K possibly damaging Het
Serpina3b T A 12: 104,104,969 (GRCm39) S382T probably benign Het
Serpinb9e T C 13: 33,439,099 (GRCm39) F175S probably benign Het
Slc19a2 C T 1: 164,084,766 (GRCm39) H219Y probably damaging Het
Slfn9 A T 11: 82,872,524 (GRCm39) D737E possibly damaging Het
Snx31 T C 15: 36,539,444 (GRCm39) E144G probably null Het
Sp2 A G 11: 96,854,282 (GRCm39) probably benign Het
Spag9 C T 11: 94,007,663 (GRCm39) L1117F probably damaging Het
Spata31e2 G T 1: 26,721,222 (GRCm39) Y1319* probably null Het
Syndig1l A T 12: 84,727,137 (GRCm39) probably benign Het
Sypl1 A T 12: 33,024,332 (GRCm39) probably benign Het
Tmem169 T C 1: 72,339,855 (GRCm39) M95T probably benign Het
Tnfrsf17 A G 16: 11,133,066 (GRCm39) Y48C possibly damaging Het
Ttn A T 2: 76,657,859 (GRCm39) probably benign Het
Uap1 G C 1: 169,977,952 (GRCm39) H366Q probably benign Het
Ulbp1 A G 10: 7,396,557 (GRCm39) probably benign Het
Urb2 T C 8: 124,757,647 (GRCm39) V1118A probably benign Het
Usp54 T C 14: 20,600,258 (GRCm39) N1493S probably benign Het
Vmn1r129 C A 7: 21,094,655 (GRCm39) V188F probably benign Het
Vmn1r226 A T 17: 20,907,994 (GRCm39) L75F probably benign Het
Yes1 T A 5: 32,809,046 (GRCm39) S137R probably benign Het
Zfp804b A G 5: 7,229,372 (GRCm39) probably benign Het
Other mutations in Gbf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Gbf1 APN 19 46,272,688 (GRCm39) critical splice acceptor site probably null
IGL00988:Gbf1 APN 19 46,272,559 (GRCm39) critical splice donor site probably null
IGL01352:Gbf1 APN 19 46,253,654 (GRCm39) missense probably damaging 1.00
IGL01432:Gbf1 APN 19 46,268,434 (GRCm39) missense probably damaging 1.00
IGL01469:Gbf1 APN 19 46,267,803 (GRCm39) missense probably damaging 1.00
IGL01870:Gbf1 APN 19 46,274,108 (GRCm39) missense probably benign 0.00
IGL02019:Gbf1 APN 19 46,267,731 (GRCm39) missense possibly damaging 0.93
IGL02061:Gbf1 APN 19 46,267,697 (GRCm39) missense possibly damaging 0.65
IGL02126:Gbf1 APN 19 46,240,556 (GRCm39) missense probably damaging 0.97
IGL02272:Gbf1 APN 19 46,258,242 (GRCm39) missense probably damaging 1.00
IGL02346:Gbf1 APN 19 46,274,369 (GRCm39) missense probably damaging 1.00
IGL02491:Gbf1 APN 19 46,250,979 (GRCm39) unclassified probably benign
IGL03003:Gbf1 APN 19 46,244,094 (GRCm39) missense probably damaging 1.00
IGL03130:Gbf1 APN 19 46,255,787 (GRCm39) missense possibly damaging 0.82
IGL03376:Gbf1 APN 19 46,250,960 (GRCm39) missense possibly damaging 0.94
PIT4651001:Gbf1 UTSW 19 46,151,982 (GRCm39) missense probably benign
R0107:Gbf1 UTSW 19 46,273,267 (GRCm39) missense probably benign
R0139:Gbf1 UTSW 19 46,250,231 (GRCm39) missense probably damaging 1.00
R0180:Gbf1 UTSW 19 46,274,161 (GRCm39) missense probably benign
R0255:Gbf1 UTSW 19 46,242,549 (GRCm39) splice site probably benign
R0317:Gbf1 UTSW 19 46,242,459 (GRCm39) missense probably benign
R0329:Gbf1 UTSW 19 46,260,709 (GRCm39) critical splice donor site probably null
R0372:Gbf1 UTSW 19 46,274,143 (GRCm39) missense probably benign
R0666:Gbf1 UTSW 19 46,250,983 (GRCm39) unclassified probably benign
R1701:Gbf1 UTSW 19 46,250,114 (GRCm39) missense probably damaging 1.00
R1848:Gbf1 UTSW 19 46,260,476 (GRCm39) missense possibly damaging 0.90
R1962:Gbf1 UTSW 19 46,255,658 (GRCm39) missense probably damaging 1.00
R1965:Gbf1 UTSW 19 46,260,003 (GRCm39) missense probably damaging 1.00
R1966:Gbf1 UTSW 19 46,260,003 (GRCm39) missense probably damaging 1.00
R2177:Gbf1 UTSW 19 46,254,109 (GRCm39) missense probably benign
R2238:Gbf1 UTSW 19 46,152,057 (GRCm39) missense probably benign
R2239:Gbf1 UTSW 19 46,152,057 (GRCm39) missense probably benign
R2520:Gbf1 UTSW 19 46,253,806 (GRCm39) missense probably benign
R3821:Gbf1 UTSW 19 46,253,246 (GRCm39) missense probably damaging 0.99
R4681:Gbf1 UTSW 19 46,268,989 (GRCm39) missense probably benign 0.41
R4695:Gbf1 UTSW 19 46,247,606 (GRCm39) nonsense probably null
R4785:Gbf1 UTSW 19 46,256,834 (GRCm39) missense possibly damaging 0.89
R5202:Gbf1 UTSW 19 46,256,893 (GRCm39) missense probably benign 0.13
R5359:Gbf1 UTSW 19 46,272,164 (GRCm39) critical splice donor site probably null
R5468:Gbf1 UTSW 19 46,272,735 (GRCm39) missense possibly damaging 0.92
R5593:Gbf1 UTSW 19 46,260,963 (GRCm39) missense possibly damaging 0.91
R5595:Gbf1 UTSW 19 46,272,861 (GRCm39) missense possibly damaging 0.74
R5796:Gbf1 UTSW 19 46,272,782 (GRCm39) missense probably benign 0.08
R5938:Gbf1 UTSW 19 46,256,891 (GRCm39) missense probably damaging 1.00
R5957:Gbf1 UTSW 19 46,234,660 (GRCm39) critical splice donor site probably null
R6059:Gbf1 UTSW 19 46,253,687 (GRCm39) missense probably damaging 1.00
R6120:Gbf1 UTSW 19 46,267,760 (GRCm39) missense possibly damaging 0.83
R6239:Gbf1 UTSW 19 46,248,135 (GRCm39) missense probably benign 0.00
R6252:Gbf1 UTSW 19 46,259,995 (GRCm39) missense probably benign 0.33
R6310:Gbf1 UTSW 19 46,268,444 (GRCm39) missense probably damaging 0.96
R6787:Gbf1 UTSW 19 46,260,211 (GRCm39) missense probably benign
R6805:Gbf1 UTSW 19 46,250,946 (GRCm39) missense probably damaging 1.00
R6855:Gbf1 UTSW 19 46,268,380 (GRCm39) missense probably benign 0.00
R7313:Gbf1 UTSW 19 46,268,793 (GRCm39) missense possibly damaging 0.94
R7414:Gbf1 UTSW 19 46,271,797 (GRCm39) nonsense probably null
R7646:Gbf1 UTSW 19 46,272,111 (GRCm39) missense probably damaging 1.00
R7650:Gbf1 UTSW 19 46,260,978 (GRCm39) missense probably damaging 1.00
R7789:Gbf1 UTSW 19 46,242,441 (GRCm39) missense probably damaging 1.00
R7801:Gbf1 UTSW 19 46,261,082 (GRCm39) missense probably benign 0.03
R8241:Gbf1 UTSW 19 46,234,576 (GRCm39) missense probably damaging 1.00
R8716:Gbf1 UTSW 19 46,272,460 (GRCm39) missense probably damaging 1.00
R8851:Gbf1 UTSW 19 46,256,922 (GRCm39) missense probably damaging 1.00
R9424:Gbf1 UTSW 19 46,248,122 (GRCm39) missense probably benign 0.00
R9435:Gbf1 UTSW 19 46,268,432 (GRCm39) missense probably benign 0.42
R9500:Gbf1 UTSW 19 46,258,389 (GRCm39) missense probably benign 0.01
R9567:Gbf1 UTSW 19 46,260,046 (GRCm39) missense
R9576:Gbf1 UTSW 19 46,248,122 (GRCm39) missense probably benign 0.00
R9642:Gbf1 UTSW 19 46,258,707 (GRCm39) missense probably benign 0.00
R9680:Gbf1 UTSW 19 46,271,837 (GRCm39) missense probably damaging 0.96
R9760:Gbf1 UTSW 19 46,244,137 (GRCm39) missense probably benign 0.02
Z1177:Gbf1 UTSW 19 46,247,581 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCACCTCTTAGAGGGGACACAGTAG -3'
(R):5'- TCAGGACCACTCAATGTCAGCCAG -3'

Sequencing Primer
(F):5'- gctcctgtctcagcctcc -3'
(R):5'- AGCTAAGAACTGTTGACTCTCC -3'
Posted On 2014-03-14