Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Arfgef1'

542086

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

045078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10207796-10302895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10223903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1465 (Q1465R)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

AlphaFold

G3X9K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000088615
AA Change: Q1465R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: Q1465R

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

Meta Mutation Damage Score

0.3089

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 102,919,798 (GRCm39)	L125F	possibly damaging	Het
Arhgef5	T	C	6: 43,252,276 (GRCm39)	V1009A	probably benign	Het
Asah2	A	T	19: 31,989,913 (GRCm39)	I489K	probably benign	Het
Bace1	A	G	9: 45,766,263 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc162	T	C	10: 41,549,840 (GRCm39)	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 48,166,922 (GRCm39)		probably benign	Het
Cep78	A	C	19: 15,959,102 (GRCm39)	F111V	probably benign	Het
Chd4	T	A	6: 125,085,281 (GRCm39)	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,896,683 (GRCm39)	C398Y	probably benign	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Cpne2	C	T	8: 95,275,130 (GRCm39)	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,339,746 (GRCm39)	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,389,722 (GRCm39)	E336V	probably benign	Het
Fbxw28	A	C	9: 109,159,856 (GRCm39)	S197A	probably benign	Het
Foxk2	T	C	11: 121,151,308 (GRCm39)	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hinfp	A	C	9: 44,209,282 (GRCm39)	S306A	probably benign	Het
Hspg2	T	A	4: 137,262,467 (GRCm39)	V1663E	probably damaging	Het
Inpp4b	T	C	8: 82,571,086 (GRCm39)	I125T	probably benign	Het
Jag2	C	T	12: 112,877,878 (GRCm39)	E592K	probably benign	Het
Krt23	T	A	11: 99,371,900 (GRCm39)	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,835,857 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,934,586 (GRCm39)	N152K	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mier2	G	A	10: 79,376,476 (GRCm39)		probably benign	Het
Mmp9	A	G	2: 164,794,860 (GRCm39)	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852 (GRCm39)	E335G	probably damaging	Het
Nlrp9b	T	A	7: 19,783,433 (GRCm39)	N925K	probably damaging	Het
Nr4a2	T	C	2: 56,998,758 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,329,499 (GRCm39)	I239V	probably benign	Het
Nsun2	A	G	13: 69,779,409 (GRCm39)	D562G	probably benign	Het
Odad2	T	C	18: 7,273,155 (GRCm39)		probably null	Het
Or1e31	A	G	11: 73,690,205 (GRCm39)	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,474,941 (GRCm39)	M1L	probably benign	Het
Pcdh10	T	A	3: 45,333,977 (GRCm39)	V97D	probably damaging	Het
Pde3a	T	C	6: 141,433,658 (GRCm39)	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,799,612 (GRCm39)	V722F	possibly damaging	Het
Rhoh	A	G	5: 66,049,862 (GRCm39)	D44G	possibly damaging	Het
Riox1	C	T	12: 83,998,147 (GRCm39)	R228C	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Saxo2	T	C	7: 82,292,969 (GRCm39)	T43A	probably damaging	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,568,648 (GRCm39)		probably null	Het
Snap25	T	C	2: 136,611,690 (GRCm39)	M64T	probably benign	Het
Spef2	T	C	15: 9,597,426 (GRCm39)	N1410S	probably benign	Het
Sstr2	T	C	11: 113,515,774 (GRCm39)	I231T	probably damaging	Het
Stam	A	T	2: 14,120,829 (GRCm39)	H78L	probably damaging	Het
Suox	C	T	10: 128,507,702 (GRCm39)	V109I	possibly damaging	Het
Syne1	T	C	10: 5,067,041 (GRCm39)	R7075G	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217 (GRCm39)	R482Q	probably benign	Het
Tnrc6a	T	C	7: 122,781,650 (GRCm39)	V1440A	probably benign	Het
Togaram2	A	G	17: 72,016,608 (GRCm39)	D655G	probably damaging	Het
Trgv2	A	T	13: 19,520,896 (GRCm39)	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,521,876 (GRCm39)	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,437,866 (GRCm39)	H206L	probably benign	Het
Zan	T	A	5: 137,460,075 (GRCm39)	Y1272F	unknown	Het
Zfp39	T	C	11: 58,782,306 (GRCm39)	H152R	probably benign	Het
Zfp41	T	A	15: 75,490,310 (GRCm39)	Y87*	probably null	Het
Zfp933	A	T	4: 147,910,654 (GRCm39)	L314H	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
R1416:Arfgef1	UTSW	1	10,243,164 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCGTGCTAACTGCTCATTGTC -3'
(R):5'- CTTATAGTTCAGGCTCTGTGGC -3'

Sequencing Primer
(F):5'- GCTAACTGCTCATTGTCTAGAAAAG -3'
(R):5'- AGAGAGGCTCGTTTTTCCTC -3'

Posted On

2018-11-28