Incidental Mutation 'R9576:Gbf1'
ID 722329
Institutional Source Beutler Lab
Gene Symbol Gbf1
Ensembl Gene ENSMUSG00000025224
Gene Name golgi-specific brefeldin A-resistance factor 1
Synonyms 1700083E03Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9576 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 46140948-46274949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46248122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 300 (T300S)
Ref Sequence ENSEMBL: ENSMUSP00000026254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026254] [ENSMUST00000176992]
AlphaFold Q6DFZ1
Predicted Effect probably benign
Transcript: ENSMUST00000026254
AA Change: T300S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: T300S

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
Predicted Effect probably benign
Transcript: ENSMUST00000176992
AA Change: T246S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: T246S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Aars1 T A 8: 111,768,296 (GRCm39) Y222* probably null Het
Abi2 G T 1: 60,449,008 (GRCm39) R16L possibly damaging Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Adgrv1 T C 13: 81,691,608 (GRCm39) T1660A probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arhgap26 T A 18: 39,253,207 (GRCm39) Y211* probably null Het
Ascc3 T C 10: 50,494,254 (GRCm39) Y230H possibly damaging Het
Btg4 C A 9: 51,030,436 (GRCm39) Q179K probably damaging Het
Ccdc150 G T 1: 54,407,544 (GRCm39) E1107* probably null Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd200r4 A G 16: 44,658,338 (GRCm39) T241A Het
Chd9 T A 8: 91,659,294 (GRCm39) S85T unknown Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Crygb T C 1: 65,119,686 (GRCm39) D98G probably benign Het
Ctbp2 A T 7: 132,616,198 (GRCm39) S246T probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Dpp10 A G 1: 123,269,409 (GRCm39) S667P probably damaging Het
Epha7 G A 4: 28,870,659 (GRCm39) C312Y probably damaging Het
Glp2r T C 11: 67,655,622 (GRCm39) K40R probably benign Het
H2-Q5 G A 17: 35,613,413 (GRCm39) V49M Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hc T A 2: 34,873,767 (GRCm39) T1656S probably benign Het
Hfm1 A T 5: 107,021,938 (GRCm39) I999N probably benign Het
Hoxc4 A T 15: 102,944,384 (GRCm39) E254V probably benign Het
Il5ra T C 6: 106,712,688 (GRCm39) N275S probably damaging Het
Itfg2 C A 6: 128,389,950 (GRCm39) A272S probably benign Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Jakmip3 A G 7: 138,621,988 (GRCm39) E296G probably damaging Het
Jchain T G 5: 88,673,976 (GRCm39) E56A probably damaging Het
Kcnh5 A T 12: 74,944,307 (GRCm39) S981T probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Klk1b4 A T 7: 43,860,477 (GRCm39) D165V probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo18a T A 11: 77,709,827 (GRCm39) I607N probably damaging Het
Nefh C T 11: 4,891,222 (GRCm39) E466K possibly damaging Het
Nudc T C 4: 133,262,989 (GRCm39) E118G probably benign Het
Or2aj6 A T 16: 19,442,961 (GRCm39) D296E probably damaging Het
Or56a3 T C 7: 104,735,760 (GRCm39) L279S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Plekha7 T C 7: 115,728,669 (GRCm39) Y1199C possibly damaging Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Prkag3 A T 1: 74,787,082 (GRCm39) W59R Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Skap1 T C 11: 96,472,030 (GRCm39) F101S probably benign Het
Slc16a8 T A 15: 79,136,182 (GRCm39) Q340L probably damaging Het
Slc2a12 A T 10: 22,578,004 (GRCm39) Q600L possibly damaging Het
Slc39a14 T G 14: 70,556,235 (GRCm39) D47A probably benign Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sos1 T C 17: 80,742,367 (GRCm39) M387V probably benign Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Tas1r3 C T 4: 155,946,822 (GRCm39) R261H probably benign Het
Tm7sf3 C A 6: 146,511,335 (GRCm39) G385W probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Usp13 A T 3: 32,969,135 (GRCm39) probably null Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn2r50 T C 7: 9,771,190 (GRCm39) Q837R probably benign Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P 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
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
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'- ACTCTAGAGGCGTTTATACATGAG -3'
(R):5'- AGGCTCAGGTTCCTACAGTGAC -3'

Sequencing Primer
(F):5'- ACATGAGCATTCAGTCTGAGC -3'
(R):5'- CTCAGGTTCCTACAGTGACATGTAG -3'
Posted On 2022-08-09