Mutagenetix > Incidental Mutation

Incidental Mutation 'R1416:Arfgef1'

159554

Institutional Source

Beutler Lab

Gene Symbol

Arfgef1

Ensembl Gene

ENSMUSG00000067851

Gene Name

ADP ribosylation factor guanine nucleotide exchange factor 1

Synonyms

D730028O18Rik, D130059B05Rik, BIG1, P200, ARFGEP1

MMRRC Submission

039472-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10207796-10302895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10243164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1059 (T1059S)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

AlphaFold

G3X9K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000088615
AA Change: T1059S

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

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: T1059S

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 benign
Transcript: ENSMUST00000131556

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851

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

Meta Mutation Damage Score

0.0733

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,950,822 (GRCm39)	S49P	probably damaging	Het
Afm	T	C	5: 90,674,238 (GRCm39)	I250T	possibly damaging	Het
Alox5	G	A	6: 116,400,106 (GRCm39)	Q278*	probably null	Het
Anxa7	G	A	14: 20,512,775 (GRCm39)	R253C	probably damaging	Het
Arpp21	T	C	9: 112,008,197 (GRCm39)	E101G	probably damaging	Het
Bcr	A	T	10: 74,897,338 (GRCm39)	I161F	possibly damaging	Het
Ccdc141	T	C	2: 76,845,140 (GRCm39)	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,356 (GRCm39)	S233N	probably damaging	Het
Col5a1	T	G	2: 27,812,076 (GRCm39)	S53A	unknown	Het
Cplane1	C	T	15: 8,276,422 (GRCm39)	Q2689*	probably null	Het
Efnb2	A	G	8: 8,672,329 (GRCm39)		probably null	Het
Epb41l5	T	C	1: 119,477,606 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,390,397 (GRCm39)	F77S	probably damaging	Het
Ern1	C	T	11: 106,312,806 (GRCm39)		probably benign	Het
Eya3	T	C	4: 132,434,440 (GRCm39)		probably benign	Het
Icos	T	C	1: 61,033,802 (GRCm39)	L144P	probably damaging	Het
Ipo8	A	G	6: 148,690,591 (GRCm39)	V717A	probably benign	Het
Lrp12	T	C	15: 39,742,019 (GRCm39)	E232G	probably damaging	Het
Lrp1b	A	G	2: 40,888,228 (GRCm39)	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,701,633 (GRCm39)	F207I	possibly damaging	Het
Mtor	G	T	4: 148,575,871 (GRCm39)	E1342*	probably null	Het
Nrap	A	G	19: 56,315,725 (GRCm39)	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,418,423 (GRCm39)	V51A	probably damaging	Het
Or5an11	C	A	19: 12,246,258 (GRCm39)	F221L	probably benign	Het
Or5p5	T	C	7: 107,414,469 (GRCm39)	L228P	probably damaging	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Or8k27	T	C	2: 86,275,664 (GRCm39)	I221V	probably benign	Het
Or9m1b	T	A	2: 87,836,915 (GRCm39)	Y60F	probably damaging	Het
Otud6b	A	C	4: 14,818,473 (GRCm39)	L143V	probably damaging	Het
Pabir2	T	C	X: 52,335,023 (GRCm39)	*256W	probably null	Het
Pp2d1	T	C	17: 53,822,835 (GRCm39)	N77S	probably benign	Het
Ppp4r3c2	A	T	X: 88,797,283 (GRCm39)	M372L	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Raly	G	T	2: 154,699,273 (GRCm39)	G26*	probably null	Het
Rarb	T	C	14: 16,435,177 (GRCm38)	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617 (GRCm39)	E679G	possibly damaging	Het
Scap	T	C	9: 110,213,841 (GRCm39)	V1268A	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Shisa3	C	G	5: 67,768,777 (GRCm39)	P226A	probably benign	Het
Smox	C	T	2: 131,364,051 (GRCm39)	S481F	probably damaging	Het
Stard9	T	C	2: 120,531,453 (GRCm39)	V2570A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Sult4a1	C	T	15: 83,970,847 (GRCm39)	R186Q	probably benign	Het
Taf2	G	T	15: 54,901,806 (GRCm39)	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,954,484 (GRCm39)		probably benign	Het
Thbs4	G	T	13: 92,898,041 (GRCm39)	Q593K	probably benign	Het
Tigd3	T	C	19: 5,941,753 (GRCm39)	D459G	probably benign	Het
Tmem168	A	T	6: 13,591,400 (GRCm39)	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,339,875 (GRCm39)	V102F	probably damaging	Het
Tmem241	T	C	18: 12,126,631 (GRCm39)	T274A	probably benign	Het
Trip10	A	G	17: 57,557,800 (GRCm39)	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,799,239 (GRCm39)	V398A	probably benign	Het
Ubr3	A	G	2: 69,775,415 (GRCm39)	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,211,362 (GRCm39)	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,169,080 (GRCm39)	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,904 (GRCm39)	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,577,339 (GRCm39)	I400L	probably benign	Het
Vmn2r67	T	A	7: 84,800,824 (GRCm39)	I371F	probably benign	Het
Wdr64	A	G	1: 175,633,568 (GRCm39)	T940A	probably benign	Het
Zfp105	A	T	9: 122,759,742 (GRCm39)	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,605,166 (GRCm39)	H580Q	probably damaging	Het

Other mutations in Arfgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Arfgef1	APN	1	10,270,012 (GRCm39)	missense	probably benign
IGL00919:Arfgef1	APN	1	10,243,462 (GRCm39)	missense	probably damaging	1.00
IGL01022:Arfgef1	APN	1	10,244,301 (GRCm39)	missense	probably damaging	1.00
IGL01155:Arfgef1	APN	1	10,269,207 (GRCm39)	splice site	probably benign
IGL01288:Arfgef1	APN	1	10,283,436 (GRCm39)	missense	possibly damaging	0.67
IGL01397:Arfgef1	APN	1	10,229,796 (GRCm39)	missense	probably benign	0.40
IGL01433:Arfgef1	APN	1	10,223,657 (GRCm39)	missense	probably damaging	1.00
IGL01653:Arfgef1	APN	1	10,230,133 (GRCm39)	nonsense	probably null
IGL01669:Arfgef1	APN	1	10,229,840 (GRCm39)	missense	probably damaging	1.00
IGL01795:Arfgef1	APN	1	10,217,753 (GRCm39)	missense	probably benign	0.01
IGL01860:Arfgef1	APN	1	10,224,621 (GRCm39)	missense	probably damaging	1.00
IGL02137:Arfgef1	APN	1	10,283,338 (GRCm39)	missense	probably damaging	1.00
IGL02365:Arfgef1	APN	1	10,270,108 (GRCm39)	missense	probably benign	0.00
IGL02519:Arfgef1	APN	1	10,279,893 (GRCm39)	missense	probably benign	0.13
IGL02542:Arfgef1	APN	1	10,243,067 (GRCm39)	missense	probably benign	0.24
IGL02604:Arfgef1	APN	1	10,251,275 (GRCm39)	splice site	probably benign
IGL02743:Arfgef1	APN	1	10,270,054 (GRCm39)	missense	probably benign	0.00
IGL03225:Arfgef1	APN	1	10,224,543 (GRCm39)	missense	probably damaging	1.00
Collected	UTSW	1	10,251,163 (GRCm39)	missense	probably damaging	1.00
uncle_joe	UTSW	1	10,231,060 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Arfgef1	UTSW	1	10,250,058 (GRCm39)	missense	probably damaging	1.00
I2288:Arfgef1	UTSW	1	10,243,478 (GRCm39)	missense	probably damaging	1.00
I2289:Arfgef1	UTSW	1	10,243,478 (GRCm39)	missense	probably damaging	1.00
R0383:Arfgef1	UTSW	1	10,269,067 (GRCm39)	critical splice donor site	probably null
R0491:Arfgef1	UTSW	1	10,250,212 (GRCm39)	splice site	probably benign
R0636:Arfgef1	UTSW	1	10,270,076 (GRCm39)	missense	probably benign
R1006:Arfgef1	UTSW	1	10,210,706 (GRCm39)	missense	probably benign	0.00
R1212:Arfgef1	UTSW	1	10,286,784 (GRCm39)	missense	probably benign	0.05
R1233:Arfgef1	UTSW	1	10,254,315 (GRCm39)	missense	probably damaging	1.00
R1346:Arfgef1	UTSW	1	10,229,958 (GRCm39)	missense	probably benign	0.41
R1477:Arfgef1	UTSW	1	10,259,509 (GRCm39)	missense	probably damaging	1.00
R1581:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R1587:Arfgef1	UTSW	1	10,230,184 (GRCm39)	missense	probably damaging	0.99
R1602:Arfgef1	UTSW	1	10,275,115 (GRCm39)	missense	probably benign	0.01
R1745:Arfgef1	UTSW	1	10,243,480 (GRCm39)	missense	probably damaging	1.00
R1831:Arfgef1	UTSW	1	10,275,115 (GRCm39)	missense	probably benign	0.01
R1832:Arfgef1	UTSW	1	10,275,115 (GRCm39)	missense	probably benign	0.01
R1833:Arfgef1	UTSW	1	10,275,115 (GRCm39)	missense	probably benign	0.01
R1918:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R1919:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R2059:Arfgef1	UTSW	1	10,258,977 (GRCm39)	splice site	probably null
R2146:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R2148:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R2149:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R2150:Arfgef1	UTSW	1	10,270,103 (GRCm39)	missense	probably benign	0.02
R2373:Arfgef1	UTSW	1	10,244,367 (GRCm39)	missense	probably damaging	1.00
R2516:Arfgef1	UTSW	1	10,223,879 (GRCm39)	missense	possibly damaging	0.89
R3863:Arfgef1	UTSW	1	10,212,811 (GRCm39)	frame shift	probably null
R3916:Arfgef1	UTSW	1	10,259,668 (GRCm39)	missense	probably benign	0.01
R3948:Arfgef1	UTSW	1	10,212,811 (GRCm39)	frame shift	probably null
R3949:Arfgef1	UTSW	1	10,212,811 (GRCm39)	frame shift	probably null
R3977:Arfgef1	UTSW	1	10,279,859 (GRCm39)	missense	probably benign	0.01
R3978:Arfgef1	UTSW	1	10,279,859 (GRCm39)	missense	probably benign	0.01
R3979:Arfgef1	UTSW	1	10,279,859 (GRCm39)	missense	probably benign	0.01
R4086:Arfgef1	UTSW	1	10,233,984 (GRCm39)	missense	probably benign	0.06
R4175:Arfgef1	UTSW	1	10,229,861 (GRCm39)	missense	probably damaging	1.00
R4257:Arfgef1	UTSW	1	10,229,771 (GRCm39)	intron	probably benign
R4572:Arfgef1	UTSW	1	10,283,366 (GRCm39)	missense	probably damaging	1.00
R4652:Arfgef1	UTSW	1	10,243,487 (GRCm39)	missense	probably damaging	0.98
R4678:Arfgef1	UTSW	1	10,212,891 (GRCm39)	missense	probably benign	0.03
R4737:Arfgef1	UTSW	1	10,259,836 (GRCm39)	missense	possibly damaging	0.85
R4779:Arfgef1	UTSW	1	10,223,958 (GRCm39)	missense	probably damaging	1.00
R4818:Arfgef1	UTSW	1	10,286,772 (GRCm39)	missense	probably benign
R4898:Arfgef1	UTSW	1	10,229,798 (GRCm39)	missense	possibly damaging	0.75
R4979:Arfgef1	UTSW	1	10,283,334 (GRCm39)	missense	probably damaging	1.00
R5039:Arfgef1	UTSW	1	10,269,961 (GRCm39)	missense	probably benign	0.37
R5194:Arfgef1	UTSW	1	10,275,132 (GRCm39)	missense	probably benign	0.09
R5428:Arfgef1	UTSW	1	10,231,060 (GRCm39)	missense	probably damaging	1.00
R5533:Arfgef1	UTSW	1	10,269,952 (GRCm39)	critical splice donor site	probably null
R5547:Arfgef1	UTSW	1	10,231,201 (GRCm39)	missense	probably damaging	1.00
R5562:Arfgef1	UTSW	1	10,214,971 (GRCm39)	missense	probably damaging	1.00
R5635:Arfgef1	UTSW	1	10,259,085 (GRCm39)	missense	possibly damaging	0.81
R5697:Arfgef1	UTSW	1	10,231,063 (GRCm39)	missense	probably benign	0.03
R5704:Arfgef1	UTSW	1	10,229,808 (GRCm39)	missense	probably damaging	0.98
R5722:Arfgef1	UTSW	1	10,209,109 (GRCm39)	missense	probably benign	0.04
R5793:Arfgef1	UTSW	1	10,279,753 (GRCm39)	missense	probably benign	0.01
R5835:Arfgef1	UTSW	1	10,230,964 (GRCm39)	missense	probably damaging	1.00
R5870:Arfgef1	UTSW	1	10,251,163 (GRCm39)	missense	probably damaging	1.00
R5990:Arfgef1	UTSW	1	10,243,146 (GRCm39)	missense	probably damaging	0.99
R6290:Arfgef1	UTSW	1	10,259,036 (GRCm39)	missense	possibly damaging	0.91
R6460:Arfgef1	UTSW	1	10,283,285 (GRCm39)	missense	probably damaging	1.00
R6613:Arfgef1	UTSW	1	10,264,621 (GRCm39)	missense	possibly damaging	0.95
R6802:Arfgef1	UTSW	1	10,259,677 (GRCm39)	missense	probably benign	0.35
R6967:Arfgef1	UTSW	1	10,223,904 (GRCm39)	missense	probably damaging	0.99
R6967:Arfgef1	UTSW	1	10,223,903 (GRCm39)	missense	probably damaging	1.00
R6968:Arfgef1	UTSW	1	10,223,904 (GRCm39)	missense	probably damaging	0.99
R6968:Arfgef1	UTSW	1	10,223,903 (GRCm39)	missense	probably damaging	1.00
R6969:Arfgef1	UTSW	1	10,223,904 (GRCm39)	missense	probably damaging	0.99
R6969:Arfgef1	UTSW	1	10,223,903 (GRCm39)	missense	probably damaging	1.00
R6970:Arfgef1	UTSW	1	10,223,904 (GRCm39)	missense	probably damaging	0.99
R6970:Arfgef1	UTSW	1	10,223,903 (GRCm39)	missense	probably damaging	1.00
R7092:Arfgef1	UTSW	1	10,223,901 (GRCm39)	missense	probably damaging	1.00
R7251:Arfgef1	UTSW	1	10,269,200 (GRCm39)	missense	possibly damaging	0.81
R7334:Arfgef1	UTSW	1	10,254,685 (GRCm39)	missense	probably damaging	1.00
R7399:Arfgef1	UTSW	1	10,251,122 (GRCm39)	missense	probably benign	0.00
R7631:Arfgef1	UTSW	1	10,302,694 (GRCm39)	missense	probably benign	0.00
R7699:Arfgef1	UTSW	1	10,264,636 (GRCm39)	missense	possibly damaging	0.78
R7700:Arfgef1	UTSW	1	10,264,636 (GRCm39)	missense	possibly damaging	0.78
R7772:Arfgef1	UTSW	1	10,227,235 (GRCm39)	missense	possibly damaging	0.96
R7968:Arfgef1	UTSW	1	10,243,145 (GRCm39)	missense	probably damaging	1.00
R8195:Arfgef1	UTSW	1	10,243,478 (GRCm39)	missense	probably damaging	1.00
R8292:Arfgef1	UTSW	1	10,227,194 (GRCm39)	missense	probably benign	0.06
R8301:Arfgef1	UTSW	1	10,250,058 (GRCm39)	missense	probably damaging	1.00
R8341:Arfgef1	UTSW	1	10,224,553 (GRCm39)	missense	probably benign	0.37
R8410:Arfgef1	UTSW	1	10,229,867 (GRCm39)	missense	possibly damaging	0.94
R8411:Arfgef1	UTSW	1	10,286,759 (GRCm39)	missense	probably benign	0.01
R8793:Arfgef1	UTSW	1	10,212,832 (GRCm39)	missense	possibly damaging	0.95
R8903:Arfgef1	UTSW	1	10,211,838 (GRCm39)	missense	probably damaging	1.00
R8955:Arfgef1	UTSW	1	10,270,062 (GRCm39)	missense	probably benign	0.25
R9036:Arfgef1	UTSW	1	10,259,055 (GRCm39)	missense	probably benign	0.01
R9185:Arfgef1	UTSW	1	10,215,004 (GRCm39)	missense	probably damaging	1.00
R9252:Arfgef1	UTSW	1	10,243,122 (GRCm39)	nonsense	probably null
R9333:Arfgef1	UTSW	1	10,222,037 (GRCm39)	nonsense	probably null
R9335:Arfgef1	UTSW	1	10,228,236 (GRCm39)	missense	probably damaging	1.00
R9348:Arfgef1	UTSW	1	10,283,419 (GRCm39)	missense	probably benign	0.03
R9355:Arfgef1	UTSW	1	10,270,000 (GRCm39)	missense	probably benign	0.00
R9564:Arfgef1	UTSW	1	10,217,758 (GRCm39)	missense	probably benign	0.00
R9600:Arfgef1	UTSW	1	10,233,977 (GRCm39)	missense	probably benign	0.01
R9789:Arfgef1	UTSW	1	10,243,427 (GRCm39)	missense	probably damaging	1.00
V1662:Arfgef1	UTSW	1	10,243,478 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTGACAGAACAGTTTGCATGG -3'
(R):5'- ATCACGGTGGCTCACACTGATG -3'

Sequencing Primer
(F):5'- CTTGTCCAGTCTTAGAAGCAAGTG -3'
(R):5'- GGCATGAGGTAGAAACACTTTTAAC -3'

Posted On

2014-03-14