Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Gbf1'

185405

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 #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46267697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1236 (S1236A)

Ref Sequence

ENSEMBL: ENSMUSP00000026254 (fasta)

Gene Model

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

AlphaFold

Q6DFZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026254
AA Change: S1236A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: S1236A

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 benign
Transcript: ENSMUST00000176992
AA Change: S1182A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: S1182A

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Atp4a	A	G	7: 30,414,454 (GRCm39)	Y159C	probably damaging	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,094,319 (GRCm39)	P76S	probably benign	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Psmb10	T	C	8: 106,664,343 (GRCm39)	T38A	probably damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526 (GRCm39)	A740V	probably damaging	Het
Tra2a	A	G	6: 49,226,032 (GRCm39)	V136A	possibly damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	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
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

2014-05-07