Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02346:Gbf1'

289289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbf1

Ensembl Gene

ENSMUSG00000025224

Gene Name

golgi-specific brefeldin A-resistance factor 1

Synonyms

1700083E03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46274369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1859 (E1859G)

Ref Sequence

ENSEMBL: ENSMUSP00000026254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026254] [ENSMUST00000175747] [ENSMUST00000176992]

AlphaFold

Q6DFZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026254
AA Change: E1859G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: E1859G

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000176576

Predicted Effect

probably damaging
Transcript: ENSMUST00000176992
AA Change: E1801G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: E1801G

Domain	Start	End	E-Value	Type
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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,376,760 (GRCm39)	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,750,919 (GRCm39)	V531A	probably benign	Het
Ano3	A	T	2: 110,601,271 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,257,875 (GRCm39)	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,884,762 (GRCm39)		probably benign	Het
Atp13a5	T	A	16: 29,146,554 (GRCm39)	K247*	probably null	Het
Col9a1	C	T	1: 24,262,690 (GRCm39)	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 126,868,805 (GRCm39)	V223A	probably benign	Het
Eml1	T	C	12: 108,503,700 (GRCm39)	S766P	possibly damaging	Het
Fam13b	G	T	18: 34,595,158 (GRCm39)	A402E	probably benign	Het
Gad2	A	G	2: 22,519,951 (GRCm39)		probably benign	Het
Gli3	T	G	13: 15,898,278 (GRCm39)	V786G	probably damaging	Het
Gm5592	A	G	7: 40,938,889 (GRCm39)	S724G	probably damaging	Het
Hgs	A	G	11: 120,373,377 (GRCm39)	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,147,579 (GRCm39)		probably benign	Het
Id4	C	A	13: 48,415,189 (GRCm39)	Y72*	probably null	Het
Il5ra	T	A	6: 106,719,619 (GRCm39)	E71D	probably benign	Het
Kcnh4	G	A	11: 100,647,768 (GRCm39)	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,967,291 (GRCm39)	I1699L	probably damaging	Het
Madd	A	G	2: 90,992,836 (GRCm39)	Y1048H	probably damaging	Het
Mix23	T	C	16: 35,912,205 (GRCm39)	V87A	probably damaging	Het
Nr2f1	C	A	13: 78,343,527 (GRCm39)	V246L	probably damaging	Het
Oas2	A	T	5: 120,874,153 (GRCm39)	I560N	probably benign	Het
Or1j17	A	T	2: 36,578,016 (GRCm39)	M1L	probably benign	Het
Or1m1	T	C	9: 18,666,065 (GRCm39)	I289V	probably damaging	Het
Or8g19	T	C	9: 39,055,939 (GRCm39)	L181P	probably damaging	Het
Pclo	A	G	5: 14,727,552 (GRCm39)		probably benign	Het
Pdss2	T	C	10: 43,221,639 (GRCm39)	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,104,510 (GRCm39)	T525I	probably benign	Het
Ralgps1	A	T	2: 33,047,782 (GRCm39)		probably null	Het
Rasal3	A	G	17: 32,618,323 (GRCm39)	W161R	probably damaging	Het
Sema5b	T	A	16: 35,470,125 (GRCm39)	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,670,514 (GRCm39)	M1L	probably benign	Het
Sptb	C	T	12: 76,667,788 (GRCm39)	D770N	probably damaging	Het
Tdp2	T	C	13: 25,025,335 (GRCm39)	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Vmn2r130	T	C	17: 23,280,501 (GRCm39)	V54A	possibly damaging	Het
Vmn2r9	T	A	5: 108,990,850 (GRCm39)	N837I	probably benign	Het
Wdr7	A	T	18: 63,998,407 (GRCm39)	E1118V	probably benign	Het
Wwox	A	G	8: 115,438,858 (GRCm39)	H308R	probably benign	Het
Zbtb41	C	A	1: 139,374,838 (GRCm39)	P766Q	probably damaging	Het

Other mutations in Gbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16