Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Arfgef1'

652648

Institutional Source

Beutler Lab

Gene Symbol

Arfgef1

Ensembl Gene

ENSMUSG00000067851

Gene Name

ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)

Synonyms

P200, ARFGEP1, BIG1, D130059B05Rik, D730028O18Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001102430.1

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10137571-10232670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10216534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 50 (K50N)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]

AlphaFold

G3X9K3

Predicted Effect

probably benign
Transcript: ENSMUST00000088615
AA Change: K50N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: K50N

Domain	Start	End	E-Value	Type
Pfam:DCB	28	213	5.2e-45	PFAM
low complexity region	221	233	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC
Pfam:Sec7_N	416	575	1.3e-52	PFAM
Blast:Sec7	588	637	6e-24	BLAST
low complexity region	661	681	N/A	INTRINSIC
Sec7	692	879	1.15e-105	SMART
Blast:Sec7	897	933	6e-13	BLAST
Blast:Sec7	947	986	8e-18	BLAST
Pfam:DUF1981	1217	1300	3.6e-39	PFAM
low complexity region	1587	1602	N/A	INTRINSIC
low complexity region	1777	1782	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131556
AA Change: K50N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: K50N

Domain	Start	End	E-Value	Type
coiled coil region	207	234	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC
Pfam:Sec7_N	413	576	3.1e-59	PFAM
Blast:Sec7	588	637	2e-24	BLAST
low complexity region	661	681	N/A	INTRINSIC
Sec7	692	879	1.15e-105	SMART
Blast:Sec7	897	933	3e-13	BLAST
Blast:Sec7	947	986	2e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Arfgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Arfgef1	APN	1	10199787	missense	probably benign
IGL00919:Arfgef1	APN	1	10173237	missense	probably damaging	1.00
IGL01022:Arfgef1	APN	1	10174076	missense	probably damaging	1.00
IGL01155:Arfgef1	APN	1	10198982	splice site	probably benign
IGL01288:Arfgef1	APN	1	10213211	missense	possibly damaging	0.67
IGL01397:Arfgef1	APN	1	10159571	missense	probably benign	0.40
IGL01433:Arfgef1	APN	1	10153432	missense	probably damaging	1.00
IGL01653:Arfgef1	APN	1	10159908	nonsense	probably null
IGL01669:Arfgef1	APN	1	10159615	missense	probably damaging	1.00
IGL01795:Arfgef1	APN	1	10147528	missense	probably benign	0.01
IGL01860:Arfgef1	APN	1	10154396	missense	probably damaging	1.00
IGL02137:Arfgef1	APN	1	10213113	missense	probably damaging	1.00
IGL02365:Arfgef1	APN	1	10199883	missense	probably benign	0.00
IGL02519:Arfgef1	APN	1	10209668	missense	probably benign	0.13
IGL02542:Arfgef1	APN	1	10172842	missense	probably benign	0.24
IGL02604:Arfgef1	APN	1	10181050	splice site	probably benign
IGL02743:Arfgef1	APN	1	10199829	missense	probably benign	0.00
IGL03225:Arfgef1	APN	1	10154318	missense	probably damaging	1.00
Collected	UTSW	1	10180938	missense	probably damaging	1.00
uncle_joe	UTSW	1	10160835	missense	probably damaging	1.00
G1Funyon:Arfgef1	UTSW	1	10179833	missense	probably damaging	1.00
I2288:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
I2289:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
R0383:Arfgef1	UTSW	1	10198842	critical splice donor site	probably null
R0491:Arfgef1	UTSW	1	10179987	splice site	probably benign
R0636:Arfgef1	UTSW	1	10199851	missense	probably benign
R1006:Arfgef1	UTSW	1	10140481	missense	probably benign	0.00
R1212:Arfgef1	UTSW	1	10216559	missense	probably benign	0.05
R1233:Arfgef1	UTSW	1	10184090	missense	probably damaging	1.00
R1346:Arfgef1	UTSW	1	10159733	missense	probably benign	0.41
R1416:Arfgef1	UTSW	1	10172939	missense	probably damaging	1.00
R1477:Arfgef1	UTSW	1	10189284	missense	probably damaging	1.00
R1581:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R1587:Arfgef1	UTSW	1	10159959	missense	probably damaging	0.99
R1602:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1745:Arfgef1	UTSW	1	10173255	missense	probably damaging	1.00
R1831:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1832:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1833:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1918:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R1919:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2059:Arfgef1	UTSW	1	10188752	splice site	probably null
R2146:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2148:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2149:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2150:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2373:Arfgef1	UTSW	1	10174142	missense	probably damaging	1.00
R2516:Arfgef1	UTSW	1	10153654	missense	possibly damaging	0.89
R3863:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3916:Arfgef1	UTSW	1	10189443	missense	probably benign	0.01
R3948:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3949:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3977:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R3978:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R3979:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R4086:Arfgef1	UTSW	1	10163759	missense	probably benign	0.06
R4175:Arfgef1	UTSW	1	10159636	missense	probably damaging	1.00
R4257:Arfgef1	UTSW	1	10159546	intron	probably benign
R4572:Arfgef1	UTSW	1	10213141	missense	probably damaging	1.00
R4652:Arfgef1	UTSW	1	10173262	missense	probably damaging	0.98
R4678:Arfgef1	UTSW	1	10142666	missense	probably benign	0.03
R4737:Arfgef1	UTSW	1	10189611	missense	possibly damaging	0.85
R4779:Arfgef1	UTSW	1	10153733	missense	probably damaging	1.00
R4818:Arfgef1	UTSW	1	10216547	missense	probably benign
R4898:Arfgef1	UTSW	1	10159573	missense	possibly damaging	0.75
R4979:Arfgef1	UTSW	1	10213109	missense	probably damaging	1.00
R5039:Arfgef1	UTSW	1	10199736	missense	probably benign	0.37
R5194:Arfgef1	UTSW	1	10204907	missense	probably benign	0.09
R5428:Arfgef1	UTSW	1	10160835	missense	probably damaging	1.00
R5533:Arfgef1	UTSW	1	10199727	critical splice donor site	probably null
R5547:Arfgef1	UTSW	1	10160976	missense	probably damaging	1.00
R5562:Arfgef1	UTSW	1	10144746	missense	probably damaging	1.00
R5635:Arfgef1	UTSW	1	10188860	missense	possibly damaging	0.81
R5697:Arfgef1	UTSW	1	10160838	missense	probably benign	0.03
R5704:Arfgef1	UTSW	1	10159583	missense	probably damaging	0.98
R5722:Arfgef1	UTSW	1	10138884	missense	probably benign	0.04
R5793:Arfgef1	UTSW	1	10209528	missense	probably benign	0.01
R5835:Arfgef1	UTSW	1	10160739	missense	probably damaging	1.00
R5870:Arfgef1	UTSW	1	10180938	missense	probably damaging	1.00
R5990:Arfgef1	UTSW	1	10172921	missense	probably damaging	0.99
R6290:Arfgef1	UTSW	1	10188811	missense	possibly damaging	0.91
R6460:Arfgef1	UTSW	1	10213060	missense	probably damaging	1.00
R6613:Arfgef1	UTSW	1	10194396	missense	possibly damaging	0.95
R6802:Arfgef1	UTSW	1	10189452	missense	probably benign	0.35
R6967:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6967:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6968:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6968:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6969:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6969:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6970:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6970:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R7092:Arfgef1	UTSW	1	10153676	missense	probably damaging	1.00
R7251:Arfgef1	UTSW	1	10198975	missense	possibly damaging	0.81
R7334:Arfgef1	UTSW	1	10184460	missense	probably damaging	1.00
R7399:Arfgef1	UTSW	1	10180897	missense	probably benign	0.00
R7631:Arfgef1	UTSW	1	10232469	missense	probably benign	0.00
R7699:Arfgef1	UTSW	1	10194411	missense	possibly damaging	0.78
R7700:Arfgef1	UTSW	1	10194411	missense	possibly damaging	0.78
R7772:Arfgef1	UTSW	1	10157010	missense	possibly damaging	0.96
R7968:Arfgef1	UTSW	1	10172920	missense	probably damaging	1.00
R8195:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
R8292:Arfgef1	UTSW	1	10156969	missense	probably benign	0.06
R8301:Arfgef1	UTSW	1	10179833	missense	probably damaging	1.00
R8341:Arfgef1	UTSW	1	10154328	missense	probably benign	0.37
R8410:Arfgef1	UTSW	1	10159642	missense	possibly damaging	0.94
R8793:Arfgef1	UTSW	1	10142607	missense	possibly damaging	0.95
R8903:Arfgef1	UTSW	1	10141613	missense	probably damaging	1.00
R8955:Arfgef1	UTSW	1	10199837	missense	probably benign	0.25
R9036:Arfgef1	UTSW	1	10188830	missense	probably benign	0.01
R9185:Arfgef1	UTSW	1	10144779	missense	probably damaging	1.00
R9252:Arfgef1	UTSW	1	10172897	nonsense	probably null
R9333:Arfgef1	UTSW	1	10151812	nonsense	probably null
R9335:Arfgef1	UTSW	1	10158011	missense	probably damaging	1.00
R9348:Arfgef1	UTSW	1	10213194	missense	probably benign	0.03
R9355:Arfgef1	UTSW	1	10199775	missense	probably benign	0.00
R9564:Arfgef1	UTSW	1	10147533	missense	probably benign	0.00
R9600:Arfgef1	UTSW	1	10163752	missense	probably benign	0.01
R9789:Arfgef1	UTSW	1	10173202	missense	probably damaging	1.00
V1662:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGCCTTTATGCTGAAGTACAC -3'
(R):5'- CAAATGGACGAGATTGTGGCTAC -3'

Sequencing Primer
(F):5'- GCCTTTATGCTGAAGTACACTTTTG -3'
(R):5'- GAGAGTGGATGCTTTGGTAA -3'

Posted On

2020-10-20