Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:Gbf1'

407436

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 #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

46152509-46286510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46255655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 142 (L142S)

Ref Sequence

ENSEMBL: ENSMUSP00000135062 (fasta)

Gene Model

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

AlphaFold

Q6DFZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026254
AA Change: L196S

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

SMART Domains

Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: L196S

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

unknown
Transcript: ENSMUST00000176574
AA Change: L31S

Predicted Effect

probably damaging
Transcript: ENSMUST00000176992
AA Change: L142S

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

SMART Domains

Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: L142S

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,743,772	P577L	probably damaging	Het
Aff3	A	T	1: 38,209,570	S819T	probably damaging	Het
Aftph	G	T	11: 20,726,982	S209*	probably null	Het
Astn1	T	A	1: 158,612,395	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,671,266	K29E	probably benign	Het
Ccdc93	T	C	1: 121,463,117	S273P	possibly damaging	Het
Cd200r3	G	T	16: 44,943,775	M1I	probably null	Het
Cd200r3	C	A	16: 44,943,776	H2N	probably benign	Het
Col7a1	G	A	9: 108,974,956		probably null	Het
Cyp3a41a	T	A	5: 145,705,830	M240L	probably benign	Het
D430042O09Rik	A	T	7: 125,851,960	I1088F	probably damaging	Het
Dcstamp	T	C	15: 39,754,510	V105A	possibly damaging	Het
Dmbt1	C	A	7: 131,082,679	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,336,819	M634K	probably benign	Het
Farp2	T	C	1: 93,567,418	Y138H	probably damaging	Het
Fga	T	C	3: 83,032,730	S564P	probably damaging	Het
Gm5422	T	C	10: 31,250,844		noncoding transcript	Het
Helz2	A	G	2: 181,240,253	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,433,486	T4204K	probably damaging	Het
Ift81	T	C	5: 122,594,662	I270V	probably benign	Het
Kif6	C	T	17: 49,753,871	R411*	probably null	Het
Klhl35	T	A	7: 99,470,343	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,504,697	D1531E	probably benign	Het
Muc5b	C	A	7: 141,863,614	D3432E	probably benign	Het
Nipbl	A	T	15: 8,350,314	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,964,862	V228L	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,374,910	A210V	possibly damaging	Het
Olfr364-ps1	T	C	2: 37,146,452	V80A	probably benign	Het
Olfr46	A	G	7: 140,610,370	Y60C	probably damaging	Het
Osbpl7	T	C	11: 97,050,695	Y15H	probably benign	Het
Pde8b	T	A	13: 95,041,957	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,984,812	S280T	probably benign	Het
Pkd1	T	A	17: 24,593,603		probably null	Het
Polh	A	T	17: 46,194,366	V108E	possibly damaging	Het
Prob1	A	G	18: 35,653,375	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,583	N1557K	probably damaging	Het
Rev1	A	C	1: 38,088,073	F369V	possibly damaging	Het
Rgma	A	G	7: 73,417,440	N148D	probably damaging	Het
Robo3	A	G	9: 37,419,291	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Sema6c	T	C	3: 95,169,614	L337P	probably damaging	Het
Shc4	A	T	2: 125,723,333	Y15*	probably null	Het
Slc4a9	T	C	18: 36,536,893	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,206,100	N864D	probably damaging	Het
Sspo	T	C	6: 48,455,087	L745P	probably damaging	Het
Syce1l	A	G	8: 113,654,067	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,316,438	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,661,887	D7G	probably benign	Het
Tmem109	A	C	19: 10,874,331	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,039,943	R333G	probably damaging	Het
Ttn	T	G	2: 76,781,611	S17316R	probably damaging	Het
Usp10	A	G	8: 119,954,810	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,515,562	F2716I	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
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
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

Posted On

2016-08-02