Mutagenetix > Incidental Mutation

Incidental Mutation 'R6460:Arfgef1'

517545

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

044595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6460 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10207796-10302895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10283285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 208 (R208H)

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: R208H

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

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: R208H

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

possibly damaging
Transcript: ENSMUST00000131556
AA Change: R208H

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: R208H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186813

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,862 (GRCm39)	H1528L	probably benign	Het
Ablim1	A	G	19: 57,068,271 (GRCm39)	S263P	possibly damaging	Het
Ahnak2	T	C	12: 112,750,610 (GRCm39)	E104G	probably null	Het
Apof	T	A	10: 128,105,086 (GRCm39)	M80K	probably damaging	Het
Arhgef33	A	G	17: 80,657,018 (GRCm39)		probably null	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
Cabcoco1	T	C	10: 68,352,211 (GRCm39)	K34E	probably damaging	Het
Col4a4	C	A	1: 82,444,253 (GRCm39)	G1338V	unknown	Het
Coq9	T	A	8: 95,579,814 (GRCm39)	D256E	probably damaging	Het
Dnajc18	A	T	18: 35,833,963 (GRCm39)	C41S	probably benign	Het
Dnajc6	A	G	4: 101,472,795 (GRCm39)	I307M	probably damaging	Het
Emg1	A	G	6: 124,688,870 (GRCm39)	V46A	probably damaging	Het
Eya3	A	G	4: 132,408,174 (GRCm39)	S157G	probably damaging	Het
Eya4	T	C	10: 23,027,910 (GRCm39)	N274S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	A	G	9: 15,878,296 (GRCm39)	V3395A	probably damaging	Het
Fchsd1	A	T	18: 38,092,897 (GRCm39)		probably null	Het
Gm4846	A	G	1: 166,325,082 (GRCm39)	V3A	probably benign	Het
Hecw2	T	A	1: 53,907,992 (GRCm39)		probably null	Het
Herc3	T	A	6: 58,867,108 (GRCm39)	I10N	probably damaging	Het
Hhatl	C	T	9: 121,618,588 (GRCm39)	R138H	probably benign	Het
Hspa9	A	T	18: 35,085,765 (GRCm39)	H35Q	probably benign	Het
Irgq	T	A	7: 24,233,115 (GRCm39)	S319T	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Ksr2	T	A	5: 117,894,449 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,036,559 (GRCm39)	I865V	probably damaging	Het
Map2k1	A	G	9: 64,094,577 (GRCm39)	L355P	probably damaging	Het
Muc16	A	G	9: 18,551,812 (GRCm39)	I4827T	probably benign	Het
Myh1	T	C	11: 67,112,202 (GRCm39)	V1752A	probably benign	Het
Nfatc2ip	A	G	7: 125,986,909 (GRCm39)	V282A	probably damaging	Het
Nrg1	T	A	8: 32,308,561 (GRCm39)	E485V	probably damaging	Het
Ofcc1	T	C	13: 40,441,455 (GRCm39)	D2G	probably damaging	Het
Or10d3	CAGAG	CAG	9: 39,462,088 (GRCm39)		probably null	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pom121	T	C	5: 135,420,537 (GRCm39)	K295E	unknown	Het
Rb1	A	C	14: 73,515,894 (GRCm39)	I294R	probably benign	Het
Schip1	C	A	3: 68,402,227 (GRCm39)	S101R	probably benign	Het
Sec24c	T	A	14: 20,740,868 (GRCm39)	Y629N	probably damaging	Het
Shkbp1	T	A	7: 27,049,963 (GRCm39)	H305L	probably benign	Het
Spag9	T	C	11: 93,959,801 (GRCm39)	I187T	probably damaging	Het
Srp72	C	A	5: 77,135,838 (GRCm39)	T256K	probably damaging	Het
Stk32c	T	A	7: 138,685,190 (GRCm39)	N320I	probably damaging	Het
Stxbp4	A	T	11: 90,497,811 (GRCm39)	S163T	probably benign	Het
Sycp1	T	G	3: 102,832,569 (GRCm39)	Y199S	probably damaging	Het
Tpk1	T	C	6: 43,445,961 (GRCm39)	D159G	probably benign	Het
Trav21-dv12	C	T	14: 54,114,191 (GRCm39)	H104Y	probably benign	Het
Trip4	A	T	9: 65,788,302 (GRCm39)	Y48N	probably damaging	Het
Trmt10b	A	G	4: 45,314,322 (GRCm39)	T255A	possibly damaging	Het
Ttn	G	A	2: 76,747,232 (GRCm39)	Q4606*	probably null	Het
Vcan	T	A	13: 89,838,806 (GRCm39)	K2246M	possibly damaging	Het
Zfp438	C	A	18: 5,213,603 (GRCm39)	G452C	probably damaging	Het
Zfp54	T	A	17: 21,654,004 (GRCm39)	I166N	probably benign	Het
Zfp735	T	C	11: 73,602,478 (GRCm39)	V474A	probably benign	Het
Zfp831	G	T	2: 174,488,360 (GRCm39)	G1012W	possibly 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
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'- TTGGCTAAAATACCACTTCACGAAC -3'
(R):5'- CTTACAGGCTTTACTTACCGCAG -3'

Sequencing Primer
(F):5'- CTTCACGAACACTTCCATGATG -3'
(R):5'- GGCTTTACTTACCGCAGTGACATC -3'

Posted On

2018-05-21