Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Gbf1'

471258

Institutional Source

Beutler Lab

Gene Symbol

Gbf1

Ensembl Gene

ENSMUSG00000025224

Gene Name

golgi-specific brefeldin A-resistance factor 1

Synonyms

1700083E03Rik

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5957 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 46234660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135062 (fasta)

Gene Model

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

AlphaFold

Q6DFZ1

Predicted Effect

probably null
Transcript: ENSMUST00000026254

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224

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: ENSMUST00000175868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176355

Predicted Effect

probably null
Transcript: ENSMUST00000176992

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224

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

Predicted Effect

probably null
Transcript: ENSMUST00000176992

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177406

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,922 (GRCm39)	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,593,790 (GRCm39)	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,558,981 (GRCm39)	Y286*	probably null	Het
Arpp21	T	C	9: 112,014,754 (GRCm39)	T17A	probably benign	Het
Bnip2	T	C	9: 69,906,520 (GRCm39)	I147T	probably damaging	Het
Ccr8	T	C	9: 119,922,893 (GRCm39)	Y3H	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Cul7	G	A	17: 46,968,683 (GRCm39)	G553S	probably damaging	Het
Cyp21a1	A	G	17: 35,022,150 (GRCm39)	I206T	probably benign	Het
Dennd4b	A	G	3: 90,178,272 (GRCm39)	D488G	probably damaging	Het
Dip2b	T	C	15: 100,107,575 (GRCm39)	L1195P	probably benign	Het
Dmac2l	T	C	12: 69,790,558 (GRCm39)	V185A	probably benign	Het
Dock5	T	A	14: 68,095,443 (GRCm39)	H77L	probably benign	Het
Fbxw13	C	T	9: 109,021,734 (GRCm39)		probably null	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gm4846	T	C	1: 166,314,522 (GRCm39)	I374V	probably benign	Het
Gsk3b	C	A	16: 38,014,315 (GRCm39)	P258T	probably damaging	Het
Igsf5	T	C	16: 96,165,249 (GRCm39)	V8A	probably benign	Het
Il22	T	A	10: 118,041,071 (GRCm39)	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,545,896 (GRCm39)	*517Q	probably null	Het
Iqca1	T	A	1: 90,008,670 (GRCm39)	D450V	probably damaging	Het
Itga5	T	C	15: 103,259,856 (GRCm39)	D647G	probably benign	Het
Myh7	T	G	14: 55,226,535 (GRCm39)	N408T	probably damaging	Het
Mylk3	T	C	8: 86,055,266 (GRCm39)	M564V	probably damaging	Het
Nsd2	T	A	5: 34,012,947 (GRCm39)	M407K	probably damaging	Het
Odad2	T	C	18: 7,285,706 (GRCm39)	E219G	probably benign	Het
Oprd1	C	T	4: 131,871,474 (GRCm39)	V75I	probably benign	Het
Poli	G	A	18: 70,650,511 (GRCm39)	H310Y	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Ptch1	C	T	13: 63,672,929 (GRCm39)	R755H	probably damaging	Het
Pygl	A	T	12: 70,246,494 (GRCm39)	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,223,831 (GRCm39)	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,235,168 (GRCm39)	V555A	probably benign	Het
Slc8a2	C	A	7: 15,879,209 (GRCm39)	T565K	possibly damaging	Het
Snx14	T	C	9: 88,285,327 (GRCm39)	I446V	possibly damaging	Het
Syde1	T	C	10: 78,425,951 (GRCm39)	Y72C	probably damaging	Het
Trim37	C	T	11: 87,036,377 (GRCm39)	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,464,710 (GRCm39)	S530R	probably benign	Het
Vps13c	T	C	9: 67,862,253 (GRCm39)	S2957P	probably damaging	Het
Wdr41	T	C	13: 95,133,695 (GRCm39)		probably null	Het
Zyg11b	T	C	4: 108,102,210 (GRCm39)	K504E	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
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
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'- GCCCTCTAACTTCATTCAACAG -3'
(R):5'- AGAGTCCCAGGCAATCTTCTC -3'

Sequencing Primer
(F):5'- GACAAAAATGACCTTTTGCCAGG -3'
(R):5'- GAGTCCCAGGCAATCTTCTCTCTTC -3'

Posted On

2017-03-31