Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01469:Gbf1'

88216

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 #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46267803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1271 (E1271V)

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: E1271V

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

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: E1271V

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: ENSMUST00000176525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176576

Predicted Effect

probably damaging
Transcript: ENSMUST00000176992
AA Change: E1217V

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

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: E1217V

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
Aadacl4fm1	A	G	4: 144,255,192 (GRCm39)	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,325,796 (GRCm39)	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,471,401 (GRCm39)		probably null	Het
Ccdc107	A	G	4: 43,495,751 (GRCm39)	N218S	probably benign	Het
Cdh23	A	T	10: 60,433,504 (GRCm39)	M60K	probably benign	Het
Cenpe	A	G	3: 134,934,567 (GRCm39)	Q378R	probably damaging	Het
Dnaaf6rt	A	T	1: 31,262,510 (GRCm39)	D164V	probably damaging	Het
Dnah8	T	A	17: 30,902,688 (GRCm39)		probably benign	Het
Eif2b4	T	C	5: 31,345,111 (GRCm39)	D190G	probably benign	Het
Fmo5	A	G	3: 97,558,884 (GRCm39)	N448S	probably benign	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Ifitm6	A	T	7: 140,596,725 (GRCm39)	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,616,966 (GRCm39)		probably null	Het
Kng2	T	A	16: 22,818,577 (GRCm39)	K305I	probably damaging	Het
Lrp1	C	T	10: 127,420,283 (GRCm39)	R900Q	probably damaging	Het
Maml1	A	G	11: 50,157,353 (GRCm39)	M274T	probably damaging	Het
Med23	A	G	10: 24,758,495 (GRCm39)	E278G	probably damaging	Het
Myo1h	A	G	5: 114,499,330 (GRCm39)	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,257,093 (GRCm39)	S135R	probably benign	Het
Nrbf2	A	G	10: 67,105,919 (GRCm39)	L41P	probably damaging	Het
Or10a48	A	G	7: 108,424,534 (GRCm39)	V224A	probably benign	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Or1o11	T	A	17: 37,756,426 (GRCm39)	S5T	probably benign	Het
Or52e5	T	A	7: 104,719,595 (GRCm39)	M307K	probably benign	Het
Or6c6	A	G	10: 129,186,449 (GRCm39)	M6V	probably benign	Het
Otoa	T	C	7: 120,754,496 (GRCm39)		probably null	Het
Plxnb1	T	C	9: 108,934,483 (GRCm39)		probably benign	Het
Ppp1r42	A	T	1: 10,073,458 (GRCm39)		probably null	Het
Rad54l2	T	A	9: 106,599,957 (GRCm39)	K100M	probably damaging	Het
Rnf112	T	A	11: 61,342,167 (GRCm39)	T308S	possibly damaging	Het
Scaper	T	C	9: 55,767,051 (GRCm39)	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,744,697 (GRCm39)	I796L	possibly damaging	Het
Shank3	T	C	15: 89,405,477 (GRCm39)	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,055,366 (GRCm39)	T6A	probably benign	Het
Slc14a2	A	T	18: 78,198,781 (GRCm39)	I783N	probably damaging	Het
Stat1	A	G	1: 52,186,529 (GRCm39)	D447G	possibly damaging	Het
Tekt3	T	G	11: 62,964,294 (GRCm39)	I208S	probably damaging	Het
Tenm3	A	T	8: 48,689,458 (GRCm39)	V2043E	probably damaging	Het
Tgm3	T	C	2: 129,866,414 (GRCm39)	Y111H	probably damaging	Het
Tph2	T	A	10: 114,915,664 (GRCm39)	R459*	probably null	Het
Vmn2r109	T	C	17: 20,761,671 (GRCm39)	Y562C	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
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

2013-11-18