Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Gbf1'

207969

Institutional Source

Beutler Lab

Gene Symbol

Gbf1

Ensembl Gene

ENSMUSG00000025224

Gene Name

golgi-specific brefeldin A-resistance factor 1

Synonyms

1700083E03Rik

MMRRC Submission

039873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46140948-46274949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46260476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1130 (S1130A)

Ref Sequence

ENSEMBL: ENSMUSP00000026254 (fasta)

Gene Model

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

AlphaFold

Q6DFZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026254
AA Change: S1130A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: S1130A

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

possibly damaging
Transcript: ENSMUST00000176992
AA Change: S1076A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: S1076A

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

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 88,295,121 (GRCm39)	Y86*	probably null	Het
Aadac	A	G	3: 59,947,118 (GRCm39)	E272G	probably damaging	Het
Abcc8	A	T	7: 45,816,326 (GRCm39)	D271E	probably benign	Het
Acan	T	C	7: 78,748,783 (GRCm39)	F1185L	probably benign	Het
Adam1a	A	T	5: 121,657,683 (GRCm39)	C537S	probably damaging	Het
Ago2	A	G	15: 72,995,814 (GRCm39)	V395A	probably benign	Het
Alox15	A	G	11: 70,241,578 (GRCm39)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,407,632 (GRCm39)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,631,981 (GRCm39)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,703,960 (GRCm39)	Y329*	probably null	Het
Atm	A	T	9: 53,379,312 (GRCm39)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,464,669 (GRCm39)	S129A	probably benign	Het
Brat1	A	G	5: 140,704,264 (GRCm39)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,253,866 (GRCm39)	S128T	probably benign	Het
Cd300lg	A	T	11: 101,937,032 (GRCm39)		probably benign	Het
Cdc34b	C	A	11: 94,633,303 (GRCm39)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,308,626 (GRCm39)	V1767E	probably benign	Het
Cep350	T	C	1: 155,829,397 (GRCm39)	D169G	probably benign	Het
Col7a1	A	T	9: 108,798,633 (GRCm39)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,448,298 (GRCm39)	L724P	probably damaging	Het
Crb1	T	A	1: 139,164,750 (GRCm39)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,653,012 (GRCm39)	D415V	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,478,298 (GRCm39)	D237G	probably benign	Het
Dhx9	T	C	1: 153,341,499 (GRCm39)	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,224,524 (GRCm39)	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,956,643 (GRCm39)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,043,088 (GRCm39)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm39)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,075,781 (GRCm39)	L35P	probably damaging	Het
Efcab5	A	T	11: 76,994,132 (GRCm39)	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,500,617 (GRCm39)	R697P	probably damaging	Het
Emsy	T	A	7: 98,250,028 (GRCm39)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,387,485 (GRCm39)	I227M	probably damaging	Het
Epn1	T	A	7: 5,092,997 (GRCm39)	V103E	probably damaging	Het
Esrra	T	C	19: 6,889,378 (GRCm39)	D337G	probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,202,384 (GRCm39)	I230T	probably damaging	Het
Fbxl16	A	G	17: 26,035,420 (GRCm39)	I6V	probably benign	Het
Fgf23	T	C	6: 127,050,156 (GRCm39)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,711,561 (GRCm39)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm39)	E449G	probably benign	Het
Gipc3	T	C	10: 81,177,099 (GRCm39)	E157G	probably damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm6625	A	C	8: 89,873,462 (GRCm39)		noncoding transcript	Het
Gpx4	A	G	10: 79,891,870 (GRCm39)		probably benign	Het
Grb10	A	G	11: 11,896,029 (GRCm39)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,587,931 (GRCm39)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,086,795 (GRCm39)		probably benign	Het
H2bc27	A	T	11: 58,839,928 (GRCm39)	I55F	possibly damaging	Het
Haus8	G	A	8: 71,708,767 (GRCm39)		probably benign	Het
Hip1	G	A	5: 135,463,995 (GRCm39)		probably null	Het
Hspbap1	T	A	16: 35,639,134 (GRCm39)		probably null	Het
Htr2b	T	A	1: 86,027,151 (GRCm39)	I452F	possibly damaging	Het
Hydin	T	A	8: 111,296,440 (GRCm39)	H3656Q	probably benign	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Lamb3	A	T	1: 193,016,924 (GRCm39)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,364,070 (GRCm39)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,369,667 (GRCm39)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,580,405 (GRCm39)	M40I	probably damaging	Het
Mia2	A	T	12: 59,217,037 (GRCm39)		probably benign	Het
Miip	A	C	4: 147,947,549 (GRCm39)	F204V	probably damaging	Het
Mmp21	T	C	7: 133,278,882 (GRCm39)	R323G	probably benign	Het
Mta3	T	A	17: 84,062,980 (GRCm39)		probably benign	Het
Myh1	A	G	11: 67,104,456 (GRCm39)	K1004R	probably benign	Het
Myh14	T	A	7: 44,281,853 (GRCm39)	I810F	probably damaging	Het
Nbas	A	C	12: 13,463,598 (GRCm39)	D1295A	probably damaging	Het
Niban3	T	C	8: 72,056,413 (GRCm39)	M371T	possibly damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm39)	V67G	probably benign	Het
Oas1f	C	A	5: 120,993,492 (GRCm39)	Q235K	probably damaging	Het
Or12d17	T	A	17: 37,777,938 (GRCm39)	S280R	probably damaging	Het
Or13a27	T	A	7: 139,925,900 (GRCm39)	M1L	probably benign	Het
Or1p1	G	T	11: 74,180,039 (GRCm39)	C189F	probably damaging	Het
Or52ae9	T	C	7: 103,390,381 (GRCm39)	N22S	probably benign	Het
Or7e166	C	T	9: 19,624,386 (GRCm39)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pde1b	A	G	15: 103,433,767 (GRCm39)		probably null	Het
Pdilt	T	C	7: 119,088,607 (GRCm39)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,943,507 (GRCm39)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 85,301,552 (GRCm39)	M144K	probably benign	Het
Prkdc	T	C	16: 15,625,922 (GRCm39)	L3316S	probably benign	Het
Prm2	T	A	16: 10,609,455 (GRCm39)		probably benign	Het
Prmt7	T	C	8: 106,963,640 (GRCm39)	V240A	probably benign	Het
Prx	C	A	7: 27,218,313 (GRCm39)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,402,194 (GRCm39)	V131A	probably benign	Het
Ric1	T	A	19: 29,578,213 (GRCm39)		probably null	Het
Rnf150	A	T	8: 83,590,639 (GRCm39)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm39)	R298W	probably damaging	Het
Rp1	T	A	1: 4,417,455 (GRCm39)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,514,357 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,440,510 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,909 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,487,409 (GRCm39)		probably benign	Het
Shc3	C	T	13: 51,615,424 (GRCm39)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,146,950 (GRCm39)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,868,837 (GRCm39)	I376V	probably benign	Het
Slmap	A	T	14: 26,143,729 (GRCm39)	F719L	probably benign	Het
Smgc	A	G	15: 91,743,956 (GRCm39)	N573D	possibly damaging	Het
Spx	G	A	6: 142,359,805 (GRCm39)		probably null	Het
Srrt	C	G	5: 137,295,207 (GRCm39)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,607,560 (GRCm39)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,378,408 (GRCm39)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,726,194 (GRCm39)	A174T	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim33	T	C	3: 103,231,956 (GRCm39)		probably benign	Het
Tspan31	A	G	10: 126,905,327 (GRCm39)	V40A	probably damaging	Het
Uevld	A	G	7: 46,594,975 (GRCm39)		probably benign	Het
Vcl	G	T	14: 21,059,063 (GRCm39)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,793,183 (GRCm39)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,077,531 (GRCm39)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,843,622 (GRCm39)	T1968A	probably benign	Het
Vtn	A	G	11: 78,391,393 (GRCm39)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,900,245 (GRCm39)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,719,091 (GRCm39)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm39)	P123L	probably benign	Het
Zfp318	T	C	17: 46,716,981 (GRCm39)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 81,896,406 (GRCm39)	D416G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GATGTGACCCTATGAGCTGAAG -3'
(R):5'- TCTCTAACACGATCCTTAGCAGC -3'

Sequencing Primer
(F):5'- CCCTATGAGCTGAAGAGTGTAATC -3'
(R):5'- AGAAAGCAGCATCTTCTTCGTC -3'

Posted On

2014-06-23