Incidental Mutation 'R0372:Gbf1'
ID 30569
Institutional Source Beutler Lab
Gene Symbol Gbf1
Ensembl Gene ENSMUSG00000025224
Gene Name golgi-specific brefeldin A-resistance factor 1
Synonyms 1700083E03Rik
MMRRC Submission 038578-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0372 (G1)
Quality Score 168
Status Validated
Chromosome 19
Chromosomal Location 46140948-46274949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46274143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1726 (P1726S)
Ref Sequence ENSEMBL: ENSMUSP00000135062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026254] [ENSMUST00000175747] [ENSMUST00000176992]
AlphaFold Q6DFZ1
Predicted Effect probably benign
Transcript: ENSMUST00000026254
AA Change: P1784S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: P1784S

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: ENSMUST00000175706
Predicted Effect probably benign
Transcript: ENSMUST00000175747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176525
Predicted Effect probably benign
Transcript: ENSMUST00000176992
AA Change: P1726S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: P1726S

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: ENSMUST00000176576
Meta Mutation Damage Score 0.0692 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency 97% (70/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T A 14: 64,210,931 (GRCm39) Q99L probably damaging Het
Abca2 A G 2: 25,327,365 (GRCm39) Y641C probably damaging Het
Abhd10 A G 16: 45,557,254 (GRCm39) probably null Het
Acan G T 7: 78,750,349 (GRCm39) A1707S probably benign Het
Ankrd61 T A 5: 143,827,993 (GRCm39) R284S probably benign Het
Ap3d1 T C 10: 80,559,401 (GRCm39) K258E probably damaging Het
Arl6ip6 T G 2: 53,092,933 (GRCm39) F153V probably damaging Het
Atp2c2 C A 8: 120,484,180 (GRCm39) F930L probably benign Het
Avl9 T C 6: 56,703,309 (GRCm39) probably null Het
Axin2 A G 11: 108,814,159 (GRCm39) S16G probably damaging Het
Axin2 T A 11: 108,814,936 (GRCm39) probably benign Het
Bbs7 A T 3: 36,656,981 (GRCm39) D282E probably benign Het
Ccny A T 18: 9,345,201 (GRCm39) V191D probably damaging Het
Cdk11b A G 4: 155,725,957 (GRCm39) probably benign Het
Chd1 T A 17: 17,607,552 (GRCm39) C367S probably benign Het
Cnnm4 G A 1: 36,537,091 (GRCm39) V472M probably damaging Het
Cpb2 T A 14: 75,479,817 (GRCm39) I8N probably benign Het
Dusp11 A G 6: 85,935,712 (GRCm39) probably benign Het
Elmo1 T C 13: 20,756,629 (GRCm39) probably null Het
Hal A G 10: 93,343,415 (GRCm39) probably benign Het
Hlcs T C 16: 93,939,766 (GRCm39) I671V possibly damaging Het
Ifnab A G 4: 88,609,071 (GRCm39) S132P probably benign Het
Ing5 T C 1: 93,740,142 (GRCm39) I70T probably damaging Het
Ints1 T C 5: 139,758,193 (GRCm39) N228S probably damaging Het
Itgb6 T A 2: 60,458,185 (GRCm39) I523F probably benign Het
Kat2b T C 17: 53,945,565 (GRCm39) F328S possibly damaging Het
Kbtbd3 A T 9: 4,316,950 (GRCm39) I34F possibly damaging Het
Klhl11 A T 11: 100,354,348 (GRCm39) I491N probably damaging Het
Lmo7 A T 14: 102,155,489 (GRCm39) probably benign Het
Lrp1 G T 10: 127,428,005 (GRCm39) P523T probably damaging Het
Lrp1b T A 2: 40,620,810 (GRCm39) D3556V probably benign Het
Lrp2 T A 2: 69,365,387 (GRCm39) H262L probably benign Het
Lrrc27 T A 7: 138,806,103 (GRCm39) I256K probably benign Het
Lrrc47 G A 4: 154,104,089 (GRCm39) R523K probably benign Het
Lrrc71 A T 3: 87,653,084 (GRCm39) S111T probably benign Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Mphosph10 G T 7: 64,038,603 (GRCm39) probably benign Het
Nlrp4a T C 7: 26,148,657 (GRCm39) probably benign Het
Nsd2 A T 5: 34,048,895 (GRCm39) M1140L probably damaging Het
Nt5dc3 T C 10: 86,661,155 (GRCm39) M440T possibly damaging Het
Oog4 A T 4: 143,164,259 (GRCm39) L424Q probably damaging Het
Or5h17 T C 16: 58,820,450 (GRCm39) V134A probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Papola T C 12: 105,785,097 (GRCm39) F410L probably benign Het
Pcdh10 A G 3: 45,333,932 (GRCm39) E82G probably damaging Het
Pcdh20 T C 14: 88,706,439 (GRCm39) Y287C probably damaging Het
Pld1 T A 3: 28,142,787 (GRCm39) probably null Het
Plekha8 G A 6: 54,593,743 (GRCm39) probably null Het
Ppbp C T 5: 90,917,202 (GRCm39) T93M possibly damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rab3gap2 C T 1: 184,994,891 (GRCm39) T810M possibly damaging Het
Rassf9 A G 10: 102,381,872 (GRCm39) N418S possibly damaging Het
Rnf20 C G 4: 49,650,176 (GRCm39) R582G possibly damaging Het
Serpine2 T C 1: 79,799,147 (GRCm39) I36V probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc24a2 A T 4: 87,145,529 (GRCm39) V175E probably damaging Het
Sned1 T C 1: 93,213,673 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 GCC G 2: 121,889,928 (GRCm39) probably null Het
Tecrl C T 5: 83,442,506 (GRCm39) C189Y probably damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Thnsl2 T C 6: 71,116,774 (GRCm39) Y126C probably damaging Het
Tll2 T C 19: 41,171,752 (GRCm39) probably null Het
Ubqln4 C T 3: 88,463,276 (GRCm39) S147L probably benign Het
Ugt2b5 A T 5: 87,288,117 (GRCm39) C17S probably benign Het
Vps41 A T 13: 19,026,417 (GRCm39) Q505L probably benign Het
Zfp386 T C 12: 116,018,436 (GRCm39) M35T possibly damaging Het
Zfp777 T C 6: 48,021,410 (GRCm39) M71V possibly damaging Het
Zfp938 A T 10: 82,063,662 (GRCm39) L34Q probably damaging Het
Zfp974 A T 7: 27,620,120 (GRCm39) probably null 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
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
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'- GCTTCCAACATTATAGCCTGGGAGAG -3'
(R):5'- ACTGAAGCAGAGTCTTGAACGCC -3'

Sequencing Primer
(F):5'- CCTGGGAGAGGACTAGGG -3'
(R):5'- CAGAGTCTTGAACGCCTGATAG -3'
Posted On 2013-04-24