Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Gbf1'

34723

Institutional Source

Beutler Lab

Gene Symbol

Gbf1

Ensembl Gene

ENSMUSG00000025224

Gene Name

golgi-specific brefeldin A-resistance factor 1

Synonyms

1700083E03Rik

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46152509-46286510 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 46254110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135062 (fasta)

Gene Model

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

AlphaFold

Q6DFZ1

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000176574

Predicted Effect

probably benign
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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,045	F119S	probably damaging	Het
1810011H11Rik	A	G	14: 32,808,363	K83E	possibly damaging	Het
Abca13	C	A	11: 9,581,545	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,634,711	M1329K	probably damaging	Het
Aoah	A	T	13: 20,979,540	K338*	probably null	Het
Ascc3	A	T	10: 50,645,058	T416S	probably benign	Het
Baz2a	A	G	10: 128,114,639	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,508,503	N351S	probably benign	Het
Cacna1s	T	G	1: 136,118,806	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,995,657	D357G	unknown	Het
Ccna1	T	C	3: 55,050,628	E152G	probably damaging	Het
Cct4	A	G	11: 22,999,073	D273G	probably damaging	Het
Cd9	A	G	6: 125,463,740	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh7	T	C	1: 109,994,306	S43P	probably benign	Het
Cep95	G	A	11: 106,811,271	V365M	probably benign	Het
Ces1c	T	C	8: 93,127,524	T128A	probably benign	Het
Chil5	A	G	3: 106,019,267	V82A	probably damaging	Het
Clmn	T	C	12: 104,781,764	D508G	probably benign	Het
Cog8	A	T	8: 107,049,145		probably benign	Het
Cst3	A	T	2: 148,875,169	V70E	probably damaging	Het
Ctcf	A	G	8: 105,664,039	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,508,877	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,141,025	D6E	probably benign	Het
Dhx34	A	G	7: 16,205,992	V655A	probably benign	Het
Dock10	T	C	1: 80,605,876	Y203C	probably damaging	Het
Dok7	A	T	5: 35,064,334	D26V	probably damaging	Het
Epha8	G	A	4: 136,940,286	H295Y	probably damaging	Het
Esf1	A	G	2: 140,148,923		probably benign	Het
Fam83c	A	G	2: 155,829,752	S588P	probably benign	Het
Fat3	G	A	9: 15,969,706		probably benign	Het
Fhdc1	T	C	3: 84,453,510		probably benign	Het
Frmd4b	A	G	6: 97,308,086	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727	T394A	probably damaging	Het
Glg1	G	T	8: 111,159,858	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,651,527		probably null	Het
Gm19345	T	C	7: 19,854,930		probably benign	Het
Gpr179	A	T	11: 97,336,066	D1754E	probably benign	Het
Hydin	A	G	8: 110,565,018	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,858,838	T16I	possibly damaging	Het
Insl5	A	G	4: 103,018,116	*146Q	probably null	Het
Iqce	A	T	5: 140,666,202	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 19,005,002	R189H	possibly damaging	Het
Itsn1	C	T	16: 91,806,090		probably benign	Het
Kansl3	A	T	1: 36,344,969	I724N	probably benign	Het
Kcna4	T	C	2: 107,296,562	I547T	probably damaging	Het
Klk1b4	A	T	7: 44,210,734	I91F	probably benign	Het
Lmbr1	A	G	5: 29,252,755	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,560,969	A150T	probably benign	Het
Lrrc2	A	G	9: 110,980,898	E334G	possibly damaging	Het
Lrrc7	G	A	3: 158,160,838	Q1077*	probably null	Het
Mapk8	A	T	14: 33,387,307		probably benign	Het
Mast1	T	A	8: 84,912,021	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,719,618	A272S	probably damaging	Het
Myo15b	T	C	11: 115,886,283	Y912H	probably damaging	Het
Nf1	T	G	11: 79,408,699		probably null	Het
Nme7	T	A	1: 164,345,375	D218E	probably damaging	Het
Nsun7	T	A	5: 66,289,408		probably benign	Het
Nxpe2	A	G	9: 48,340,570		probably null	Het
Olfr135	T	G	17: 38,208,395	I50R	probably benign	Het
Olfr394	A	G	11: 73,887,829	V181A	probably benign	Het
Olfr473	T	A	7: 107,934,168	V216D	probably damaging	Het
Olfr698	G	A	7: 106,752,989	T133I	probably benign	Het
P2ry1	T	C	3: 61,003,530	V30A	probably benign	Het
Pgm1	T	A	5: 64,112,043	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 109,638,754	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,512,363	S18T	probably benign	Het
Ppp1r32	C	T	19: 10,475,054	R364Q	probably damaging	Het
Pqlc1	C	T	18: 80,263,518	A101V	probably benign	Het
Prg4	C	T	1: 150,455,807		probably benign	Het
Prkab2	T	A	3: 97,667,412	Y241*	probably null	Het
Prmt7	A	G	8: 106,227,207		probably benign	Het
Proser3	T	A	7: 30,546,417	R80W	probably damaging	Het
Prr12	A	G	7: 45,049,991		probably benign	Het
Psmd1	A	T	1: 86,078,582	L223F	probably damaging	Het
Rab13	A	G	3: 90,223,781		probably benign	Het
Rgl1	C	T	1: 152,552,596	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954	V1036A	probably damaging	Het
Sae1	T	A	7: 16,370,322	K121*	probably null	Het
Sap130	C	T	18: 31,680,506	P539S	probably damaging	Het
Scube2	A	G	7: 109,824,872	L475P	probably damaging	Het
Sec16a	T	C	2: 26,431,186	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,038,020	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,904,334	Y202*	probably null	Het
Shprh	T	A	10: 11,186,391	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,609,865	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,843,912		probably benign	Het
Slc46a1	T	C	11: 78,470,799	F424L	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,664,621	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,554,300	S343T	probably benign	Het
Spcs3	C	A	8: 54,528,380	R60I	probably benign	Het
Ssfa2	T	A	2: 79,660,466	L976Q	probably damaging	Het
Tbc1d16	C	A	11: 119,147,575	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,642,904	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,789,587	A750E	possibly damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tmx3	T	C	18: 90,540,006	I394T	probably damaging	Het
Trank1	G	A	9: 111,366,024	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,657,946		probably benign	Het
Tsen54	T	C	11: 115,815,408	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,031,934	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,984,334	M75L	probably benign	Het
Zc3h7a	T	C	16: 11,140,737	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,336,550	C187R	probably damaging	Het
Zfp692	G	A	11: 58,310,403		probably benign	Het
Zmiz1	G	A	14: 25,654,495		probably benign	Het

Other mutations in Gbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gbf1	APN	19	46284249	critical splice acceptor site	probably null
IGL00988:Gbf1	APN	19	46284120	critical splice donor site	probably null
IGL01352:Gbf1	APN	19	46265215	missense	probably damaging	1.00
IGL01432:Gbf1	APN	19	46279995	missense	probably damaging	1.00
IGL01469:Gbf1	APN	19	46279364	missense	probably damaging	1.00
IGL01870:Gbf1	APN	19	46285669	missense	probably benign	0.00
IGL02019:Gbf1	APN	19	46279292	missense	possibly damaging	0.93
IGL02061:Gbf1	APN	19	46279258	missense	possibly damaging	0.65
IGL02126:Gbf1	APN	19	46252117	missense	probably damaging	0.97
IGL02272:Gbf1	APN	19	46269803	missense	probably damaging	1.00
IGL02346:Gbf1	APN	19	46285930	missense	probably damaging	1.00
IGL02491:Gbf1	APN	19	46262540	unclassified	probably benign
IGL03003:Gbf1	APN	19	46255655	missense	probably damaging	1.00
IGL03130:Gbf1	APN	19	46267348	missense	possibly damaging	0.82
IGL03376:Gbf1	APN	19	46262521	missense	possibly damaging	0.94
PIT4651001:Gbf1	UTSW	19	46163543	missense	probably benign
R0107:Gbf1	UTSW	19	46284828	missense	probably benign
R0139:Gbf1	UTSW	19	46261792	missense	probably damaging	1.00
R0180:Gbf1	UTSW	19	46285722	missense	probably benign
R0317:Gbf1	UTSW	19	46254020	missense	probably benign
R0329:Gbf1	UTSW	19	46272270	critical splice donor site	probably null
R0372:Gbf1	UTSW	19	46285704	missense	probably benign
R0666:Gbf1	UTSW	19	46262544	unclassified	probably benign
R1463:Gbf1	UTSW	19	46271545	unclassified	probably benign
R1701:Gbf1	UTSW	19	46261675	missense	probably damaging	1.00
R1848:Gbf1	UTSW	19	46272037	missense	possibly damaging	0.90
R1962:Gbf1	UTSW	19	46267219	missense	probably damaging	1.00
R1965:Gbf1	UTSW	19	46271564	missense	probably damaging	1.00
R1966:Gbf1	UTSW	19	46271564	missense	probably damaging	1.00
R2177:Gbf1	UTSW	19	46265670	missense	probably benign
R2238:Gbf1	UTSW	19	46163618	missense	probably benign
R2239:Gbf1	UTSW	19	46163618	missense	probably benign
R2520:Gbf1	UTSW	19	46265367	missense	probably benign
R3821:Gbf1	UTSW	19	46264807	missense	probably damaging	0.99
R4681:Gbf1	UTSW	19	46280550	missense	probably benign	0.41
R4695:Gbf1	UTSW	19	46259167	nonsense	probably null
R4785:Gbf1	UTSW	19	46268395	missense	possibly damaging	0.89
R5202:Gbf1	UTSW	19	46268454	missense	probably benign	0.13
R5359:Gbf1	UTSW	19	46283725	critical splice donor site	probably null
R5468:Gbf1	UTSW	19	46284296	missense	possibly damaging	0.92
R5593:Gbf1	UTSW	19	46272524	missense	possibly damaging	0.91
R5595:Gbf1	UTSW	19	46284422	missense	possibly damaging	0.74
R5796:Gbf1	UTSW	19	46284343	missense	probably benign	0.08
R5938:Gbf1	UTSW	19	46268452	missense	probably damaging	1.00
R5957:Gbf1	UTSW	19	46246221	critical splice donor site	probably null
R6059:Gbf1	UTSW	19	46265248	missense	probably damaging	1.00
R6120:Gbf1	UTSW	19	46279321	missense	possibly damaging	0.83
R6239:Gbf1	UTSW	19	46259696	missense	probably benign	0.00
R6252:Gbf1	UTSW	19	46271556	missense	probably benign	0.33
R6310:Gbf1	UTSW	19	46280005	missense	probably damaging	0.96
R6787:Gbf1	UTSW	19	46271772	missense	probably benign
R6805:Gbf1	UTSW	19	46262507	missense	probably damaging	1.00
R6855:Gbf1	UTSW	19	46279941	missense	probably benign	0.00
R7313:Gbf1	UTSW	19	46280354	missense	possibly damaging	0.94
R7414:Gbf1	UTSW	19	46283358	nonsense	probably null
R7646:Gbf1	UTSW	19	46283672	missense	probably damaging	1.00
R7650:Gbf1	UTSW	19	46272539	missense	probably damaging	1.00
R7789:Gbf1	UTSW	19	46254002	missense	probably damaging	1.00
R7801:Gbf1	UTSW	19	46272643	missense	probably benign	0.03
R8241:Gbf1	UTSW	19	46246137	missense	probably damaging	1.00
R8716:Gbf1	UTSW	19	46284021	missense	probably damaging	1.00
R8851:Gbf1	UTSW	19	46268483	missense	probably damaging	1.00
R9424:Gbf1	UTSW	19	46259683	missense	probably benign	0.00
R9435:Gbf1	UTSW	19	46279993	missense	probably benign	0.42
R9500:Gbf1	UTSW	19	46269950	missense	probably benign	0.01
R9567:Gbf1	UTSW	19	46271607	missense
R9576:Gbf1	UTSW	19	46259683	missense	probably benign	0.00
R9642:Gbf1	UTSW	19	46270268	missense	probably benign	0.00
R9680:Gbf1	UTSW	19	46283398	missense	probably damaging	0.96
R9760:Gbf1	UTSW	19	46255698	missense	probably benign	0.02
Z1177:Gbf1	UTSW	19	46259142	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACATAGCACAAGCAATGATGATGACG -3'
(R):5'- CTCCTGCCCTACAATAGTGGGTTGAG -3'

Sequencing Primer
(F):5'- gaagaagaagaagaagaagaagagg -3'
(R):5'- GGGTTGAGAACTCTATTCTAGCTTC -3'

Posted On

2013-05-09