Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Arfgef1'

451816

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

043329-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10207796-10302895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10229808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1298 (T1298A)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

AlphaFold

G3X9K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000088615
AA Change: T1298A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: T1298A

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

noncoding transcript
Transcript: ENSMUST00000128834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156563

Meta Mutation Damage Score

0.1135

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Acad10	A	G	5: 121,769,606 (GRCm39)	S617P	probably benign	Het
Ahi1	A	C	10: 20,950,326 (GRCm39)	M126L	probably benign	Het
Alk	T	C	17: 72,910,115 (GRCm39)	E197G	probably damaging	Het
Alyref2	A	T	1: 171,331,547 (GRCm39)	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,500,843 (GRCm39)	H876P	probably damaging	Het
Arhgap33	T	A	7: 30,219,045 (GRCm39)		probably benign	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,409,050 (GRCm39)	V1819E	unknown	Het
Asprv1	A	G	6: 86,605,532 (GRCm39)	N126S	probably damaging	Het
Atg16l2	T	C	7: 100,949,418 (GRCm39)	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,140,697 (GRCm39)	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,696,736 (GRCm39)	T272A	probably damaging	Het
Bpifa3	G	T	2: 153,979,562 (GRCm39)		probably null	Het
Bri3	T	C	5: 144,192,716 (GRCm39)	V80A	probably damaging	Het
Ccdc28a	T	A	10: 18,106,320 (GRCm39)	E2V	probably damaging	Het
Ccdc7a	T	A	8: 129,706,577 (GRCm39)		probably benign	Het
Cds2	G	A	2: 132,135,249 (GRCm39)	V47I	probably benign	Het
Cela2a	G	A	4: 141,553,299 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,548 (GRCm39)	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,882,217 (GRCm39)	A23P	possibly damaging	Het
Crym	C	A	7: 119,801,163 (GRCm39)		probably null	Het
Def6	T	G	17: 28,447,200 (GRCm39)	D610E	probably benign	Het
Dnajc15	T	C	14: 78,063,898 (GRCm39)	Y130C	probably damaging	Het
Dock8	G	A	19: 25,151,586 (GRCm39)	V1560I	probably damaging	Het
Eif4g3	T	C	4: 137,918,003 (GRCm39)	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,347,379 (GRCm39)	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,604,275 (GRCm39)	R229L	probably damaging	Het
Golga5	T	A	12: 102,455,707 (GRCm39)	H548Q	probably benign	Het
Gspt1	A	T	16: 11,046,057 (GRCm39)	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,316,454 (GRCm39)	D732V	probably damaging	Het
Hax1	T	A	3: 89,903,403 (GRCm39)	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,576,291 (GRCm39)	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,891,303 (GRCm39)	H300Q	probably benign	Het
Il12rb2	T	C	6: 67,269,197 (GRCm39)	N538S	possibly damaging	Het
Insr	G	A	8: 3,235,122 (GRCm39)	P124L	possibly damaging	Het
Irak3	C	A	10: 119,981,594 (GRCm39)	R437L	probably benign	Het
Jhy	C	T	9: 40,808,734 (GRCm39)	V676I	probably damaging	Het
Kcns3	G	A	12: 11,142,328 (GRCm39)	R124C	probably benign	Het
Lactb	G	A	9: 66,863,058 (GRCm39)	R519*	probably null	Het
Mdfic	G	A	6: 15,770,291 (GRCm39)	G94D	probably damaging	Het
Mospd3	A	G	5: 137,598,613 (GRCm39)	V42A	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mucl1	T	C	15: 103,785,663 (GRCm39)	I15V	probably benign	Het
Mug1	T	A	6: 121,828,392 (GRCm39)	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,180,185 (GRCm39)	S709T	probably benign	Het
Nol11	T	A	11: 107,064,195 (GRCm39)	E519V	probably benign	Het
Nrp2	A	T	1: 62,824,267 (GRCm39)	I791L	probably benign	Het
Nudt19	A	G	7: 35,250,972 (GRCm39)	Y256H	probably benign	Het
Nudt8	C	T	19: 4,050,777 (GRCm39)	R42C	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or6c213	T	A	10: 129,574,685 (GRCm39)	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,900,422 (GRCm39)	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,385,761 (GRCm39)	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,647,581 (GRCm39)		probably null	Het
Phip	T	C	9: 82,753,408 (GRCm39)	N1779D	probably damaging	Het
Postn	G	T	3: 54,279,527 (GRCm39)	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,049,619 (GRCm39)		probably benign	Het
Prrt2	C	T	7: 126,618,590 (GRCm39)	V292M	probably damaging	Het
Rpl18	T	C	7: 45,370,146 (GRCm39)	V138A	possibly damaging	Het
Rps14	G	A	18: 60,910,205 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,533,956 (GRCm39)		probably null	Het
Siah2	T	G	3: 58,583,821 (GRCm39)	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc25a39	T	A	11: 102,294,220 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,658,980 (GRCm39)	M539V	probably benign	Het
Smok2b	T	A	17: 13,455,231 (GRCm39)	C464S	probably damaging	Het
Spata31	G	A	13: 65,069,855 (GRCm39)	V668I	probably benign	Het
Tbxas1	C	A	6: 38,998,067 (GRCm39)	H212N	probably benign	Het
Tenm1	A	G	X: 42,163,572 (GRCm39)	V107A	possibly damaging	Het
Thada	C	T	17: 84,538,329 (GRCm39)	A1560T	probably benign	Het
Tmem241	G	C	18: 12,197,263 (GRCm39)	F65L	probably damaging	Het
Ttc16	C	G	2: 32,659,137 (GRCm39)	E321Q	probably damaging	Het
Ttn	A	T	2: 76,748,929 (GRCm39)	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,310,863 (GRCm39)	W437*	probably null	Het
Unc79	T	A	12: 102,968,202 (GRCm39)	Y143N	probably damaging	Het
Urb2	C	T	8: 124,764,921 (GRCm39)	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,317,370 (GRCm39)	I34V	probably benign	Het
Zfp513	C	T	5: 31,358,010 (GRCm39)	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,227,456 (GRCm39)	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,640,979 (GRCm39)		probably null	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
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'- TGTGCTGAAACTACTATTACAACAAT -3'
(R):5'- TTCTATGCCAAGGGGAAAAGTA -3'

Sequencing Primer
(F):5'- TGCACCTCATTTGCCAAC -3'
(R):5'- GAAAGAAATGGGTTGAGTTTTATGTG -3'

Posted On

2017-01-03