Incidental Mutation 'R3821:Gbf1'
ID 274955
Institutional Source Beutler Lab
Gene Symbol Gbf1
Ensembl Gene ENSMUSG00000025224
Gene Name golgi-specific brefeldin A-resistance factor 1
Synonyms 1700083E03Rik
MMRRC Submission 040883-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3821 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46140948-46274949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46253246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 506 (I506T)
Ref Sequence ENSEMBL: ENSMUSP00000026254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026254] [ENSMUST00000176992]
AlphaFold Q6DFZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000026254
AA Change: I506T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: I506T

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 possibly damaging
Transcript: ENSMUST00000176992
AA Change: I452T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: I452T

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 0.7849 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Abcd2 C T 15: 91,058,908 (GRCm39) G512D probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Adamtsl3 G T 7: 82,255,687 (GRCm39) probably benign Het
Alox8 T A 11: 69,077,308 (GRCm39) I481F probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Arpin G A 7: 79,579,408 (GRCm39) R72C probably damaging Het
C6 A G 15: 4,819,066 (GRCm39) E466G probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Clgn A G 8: 84,147,106 (GRCm39) I353V probably null Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cramp1 G A 17: 25,193,756 (GRCm39) T908I probably damaging Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Ehd3 A T 17: 74,134,390 (GRCm39) I250F probably benign Het
Eml2 T C 7: 18,936,911 (GRCm39) V555A possibly damaging Het
Erbb4 A G 1: 68,345,072 (GRCm39) S550P probably damaging Het
Fchsd1 A G 18: 38,102,510 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Frem2 A T 3: 53,559,836 (GRCm39) L1557Q probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Hoxc9 A G 15: 102,890,596 (GRCm39) K171R probably benign Het
Hscb A T 5: 110,984,194 (GRCm39) D52E probably damaging Het
Htr1b A T 9: 81,514,487 (GRCm39) I40N probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Irs1 T C 1: 82,267,770 (GRCm39) T149A probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Itpr2 A T 6: 146,319,224 (GRCm39) H244Q probably damaging Het
Kcnma1 A G 14: 23,417,679 (GRCm39) I846T probably damaging Het
Kdm3a A T 6: 71,588,661 (GRCm39) D449E probably benign Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lhfpl4 A G 6: 113,171,069 (GRCm39) V39A probably benign Het
Marf1 A T 16: 13,960,418 (GRCm39) L542Q probably damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrpl19 C A 6: 81,938,987 (GRCm39) E272* probably null Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Or2a51 A G 6: 43,178,604 (GRCm39) T9A probably benign Het
Pcdhga10 A G 18: 37,880,995 (GRCm39) N252S probably damaging Het
Pcdhgb7 C A 18: 37,885,286 (GRCm39) T152K possibly damaging Het
Ptprb G T 10: 116,185,979 (GRCm39) R1678L probably benign Het
Ptprg A T 14: 12,226,375 (GRCm38) I1323L probably benign Het
Rab40b T A 11: 121,248,874 (GRCm39) N127I probably damaging Het
Scn10a A G 9: 119,467,699 (GRCm39) C814R probably benign Het
Sdhb C T 4: 140,706,399 (GRCm39) R279* probably null Het
Shroom4 C T X: 6,536,276 (GRCm39) Q1165* probably null Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc20a2 A G 8: 23,028,918 (GRCm39) I130V probably benign Het
Slitrk3 T C 3: 72,956,549 (GRCm39) Y741C possibly damaging Het
Tas1r1 G T 4: 152,119,138 (GRCm39) L144I probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Tmbim1 A G 1: 74,333,089 (GRCm39) V92A probably damaging Het
Tmem131 T A 1: 36,847,477 (GRCm39) H1207L probably damaging Het
Tmem209 G T 6: 30,505,959 (GRCm39) P116T probably damaging Het
Tmem8b C A 4: 43,689,745 (GRCm39) H800N probably damaging Het
Tnfsf8 A G 4: 63,779,127 (GRCm39) V57A probably benign Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpc6 A T 9: 8,610,279 (GRCm39) D249V probably damaging Het
Ubr3 G A 2: 69,824,157 (GRCm39) probably null Het
Ufc1 A G 1: 171,117,172 (GRCm39) probably benign Het
Unc5cl T C 17: 48,767,001 (GRCm39) L125P possibly damaging Het
Usb1 G A 8: 96,060,061 (GRCm39) S57N probably benign Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp831 T C 2: 174,485,816 (GRCm39) S164P possibly damaging 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
R1463:Gbf1 UTSW 19 46,259,984 (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
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'- GCCTTATGGGAGACAAAGCG -3'
(R):5'- CACAGTTCCTAGAGGTAGCAATAGTG -3'

Sequencing Primer
(F):5'- GACAAAGCGGGGAATATATTACTG -3'
(R):5'- TGCTCAGCACCTTGGACAG -3'
Posted On 2015-04-02