Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Gbf1'

590575

Institutional Source

Beutler Lab

Gene Symbol

Gbf1

Ensembl Gene

ENSMUSG00000025224

Gene Name

golgi-specific brefeldin A-resistance factor 1

Synonyms

1700083E03Rik

MMRRC Submission

045724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46152509-46286510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46283672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1610 (D1610E)

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: D1610E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: D1610E

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

probably benign
Transcript: ENSMUST00000175747

Predicted Effect

probably damaging
Transcript: ENSMUST00000176992
AA Change: D1552E

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

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: D1552E

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

Meta Mutation Damage Score

0.1616

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,514,714	H936R	probably benign	Het
Afg3l1	C	A	8: 123,493,027	D431E	possibly damaging	Het
Agrn	T	C	4: 156,195,354	N120S	probably damaging	Het
Apob	A	G	12: 8,009,189	D2557G	probably damaging	Het
Atl2	A	G	17: 79,854,607	Y359H	probably damaging	Het
Banp	T	C	8: 122,024,036	S489P	possibly damaging	Het
Cage1	A	G	13: 38,022,847	C341R	probably damaging	Het
Cdh23	T	C	10: 60,305,152	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,435,773	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,445,086	F1515I	probably benign	Het
Crocc	T	A	4: 141,021,655	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,940	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,399,519		probably null	Het
Dnah8	G	A	17: 30,649,677	D362N	probably benign	Het
Elf5	G	T	2: 103,439,243	K56N	probably benign	Het
Emsy	G	A	7: 98,619,353	P508S	probably damaging	Het
Fam135a	T	C	1: 24,028,623	H1055R	probably benign	Het
Fh1	C	T	1: 175,614,913	V124I	probably benign	Het
Glp1r	A	G	17: 30,936,283	K415E	probably benign	Het
Glyr1	T	C	16: 5,018,497	D496G	probably damaging	Het
Herc2	A	G	7: 56,134,613	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,215,719	*230Q	probably null	Het
Ice1	A	G	13: 70,589,797	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,721,919	M271K	possibly damaging	Het
Klk1b22	T	G	7: 44,116,118		probably null	Het
Lig3	T	A	11: 82,783,478	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,912,135	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Mki67	A	T	7: 135,696,769	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,132,767	S282L	probably damaging	Het
Ndst2	A	G	14: 20,724,459		probably null	Het
Nlrp4a	C	G	7: 26,449,562	A198G	probably damaging	Het
Nup98	A	C	7: 102,154,035	S653A	probably benign	Het
Olfr1084	C	A	2: 86,639,169	D180Y	probably damaging	Het
Olfr1120	A	G	2: 87,357,758	I105V	probably benign	Het
Olfr116	G	T	17: 37,624,404	T77K	probably damaging	Het
Olfr60	A	G	7: 140,345,951	F13L	probably damaging	Het
Olfr632	G	A	7: 103,938,297	A306T	probably damaging	Het
Pclo	A	T	5: 14,520,895	D98V	probably damaging	Het
Peg3	A	T	7: 6,709,222	D1000E	probably benign	Het
Polr3h	A	G	15: 81,917,370	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,625,954	I346V	probably benign	Het
Rufy1	T	A	11: 50,410,609	K332M	probably damaging	Het
Scn1a	T	C	2: 66,287,758	M404V	possibly damaging	Het
Sept8	T	A	11: 53,537,917		probably null	Het
Sesn3	A	G	9: 14,308,615	D100G	probably damaging	Het
Setx	A	G	2: 29,177,549	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,763,542		probably null	Het
Slc25a23	C	T	17: 57,059,759		probably benign	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Slco3a1	G	A	7: 74,504,596	A76V	probably damaging	Het
Stradb	A	T	1: 58,994,408	D410V	probably benign	Het
Syne1	T	C	10: 5,172,949	D329G	probably damaging	Het
Syt4	A	C	18: 31,441,605	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,417,162	T141A	possibly damaging	Het
Trim34b	G	A	7: 104,335,352	A279T	probably damaging	Het
Trpm6	A	T	19: 18,867,961	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,816,210	M832K	probably benign	Het
Wdr90	A	G	17: 25,860,130	V246A	probably benign	Het
Xkr6	G	T	14: 63,606,974	D149Y	probably damaging	Het
Zfp108	A	G	7: 24,261,415	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,191,295	I552L	probably damaging	Het
Zfp426	A	T	9: 20,470,024	S556T	probably damaging	Het
Zfp954	G	A	7: 7,115,721	L275F	possibly damaging	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
R0255:Gbf1	UTSW	19	46254110	splice site	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
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'- AGTTCAGATCACAAGGCAGG -3'
(R):5'- TTACTCTCGAGTCCAGAGCC -3'

Sequencing Primer
(F):5'- TTCAGATCACAAGGCAGGAAGAGTG -3'
(R):5'- CTCCATAGCTAGGGGTTCATGAAATG -3'

Posted On

2019-10-24