Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01352:Gbf1'

75391

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 #

IGL01352

Quality Score

Status

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46253654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 574 (H574R)

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: H574R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: H574R

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: ENSMUST00000130184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176853

Predicted Effect

probably damaging
Transcript: ENSMUST00000176992
AA Change: H520R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: H520R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177512

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,837,155 (GRCm39)	I1169V	probably benign	Het
B3gnt5	T	C	16: 19,587,963 (GRCm39)	S61P	probably damaging	Het
Bambi	G	A	18: 3,512,071 (GRCm39)	A152T	probably damaging	Het
Cacna1c	G	A	6: 118,633,518 (GRCm39)	Q930*	probably null	Het
Ccdc178	A	G	18: 22,152,031 (GRCm39)		probably benign	Het
Chit1	C	T	1: 134,076,228 (GRCm39)	T295M	probably damaging	Het
Cntnap5c	C	A	17: 58,600,896 (GRCm39)	N746K	probably benign	Het
Cyfip2	A	T	11: 46,156,823 (GRCm39)	F422I	probably benign	Het
Dsg3	A	G	18: 20,656,753 (GRCm39)	M208V	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Gm17654	T	G	14: 43,813,331 (GRCm39)	E186D	probably damaging	Het
Gm8165	T	C	14: 43,913,573 (GRCm39)	N97S	unknown	Het
Ilf3	C	T	9: 21,303,618 (GRCm39)	L160F	possibly damaging	Het
Krt84	T	A	15: 101,437,209 (GRCm39)	Q318L	probably damaging	Het
Lrp2	T	A	2: 69,333,870 (GRCm39)	H1457L	possibly damaging	Het
Lrrc37a	T	A	11: 103,390,181 (GRCm39)	D1748V	probably benign	Het
Mybl1	T	C	1: 9,741,904 (GRCm39)	E676G	probably damaging	Het
Myo10	C	A	15: 25,701,783 (GRCm39)	R53S	probably damaging	Het
Myorg	T	A	4: 41,499,469 (GRCm39)	R54*	probably null	Het
Nrap	A	G	19: 56,368,268 (GRCm39)	S205P	probably benign	Het
Or4c52	A	G	2: 89,846,063 (GRCm39)	D263G	probably damaging	Het
Or52z1	A	T	7: 103,437,285 (GRCm39)	Y66*	probably null	Het
Or8b1b	A	G	9: 38,376,030 (GRCm39)	N231S	probably benign	Het
Pkhd1	T	A	1: 20,619,939 (GRCm39)	M894L	probably benign	Het
Ptpn13	G	A	5: 103,634,641 (GRCm39)		probably null	Het
Pycard	T	C	7: 127,592,674 (GRCm39)	D9G	probably damaging	Het
Rbfox3	G	A	11: 118,396,439 (GRCm39)		probably benign	Het
Rnf122	C	T	8: 31,614,908 (GRCm39)	R71*	probably null	Het
Scel	T	A	14: 103,770,774 (GRCm39)	D69E	possibly damaging	Het
Spag6	T	G	2: 18,715,284 (GRCm39)	M21R	possibly damaging	Het
Stat5a	A	G	11: 100,771,898 (GRCm39)	D650G	probably damaging	Het
Tars3	T	C	7: 65,308,658 (GRCm39)	I276T	possibly damaging	Het
Tnfaip2	G	T	12: 111,412,053 (GRCm39)	E151D	probably damaging	Het
Trio	G	A	15: 27,901,315 (GRCm39)	T313I	probably benign	Het
Ubqln4	A	C	3: 88,471,775 (GRCm39)	M404L	probably benign	Het
Vps33b	T	A	7: 79,934,807 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,091,986 (GRCm39)	V451D	probably damaging	Het
Zfp341	G	T	2: 154,470,816 (GRCm39)	A278S	probably benign	Het
Zp3r	C	T	1: 130,547,093 (GRCm39)	A28T	possibly 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
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
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

2013-10-07