Mutagenetix > Incidental Mutation

Incidental Mutation 'R4175:Arfgef1'

318245

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

041013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4175 (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 10229861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1280 (H1280R)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

AlphaFold

G3X9K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000088615
AA Change: H1280R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: H1280R

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

0.4089

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (46/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd63	T	C	2: 118,533,100 (GRCm39)	M274V	probably benign	Het
Ano6	A	T	15: 95,860,050 (GRCm39)	D724V	probably damaging	Het
Apobec3	A	G	15: 79,779,653 (GRCm39)	N43S	probably damaging	Het
Cbfa2t3	C	T	8: 123,370,057 (GRCm39)	V139M	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clmp	A	T	9: 40,682,432 (GRCm39)	N72I	probably benign	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Creb3l1	A	G	2: 91,813,520 (GRCm39)	F506L	probably benign	Het
Ctbp1	A	G	5: 33,424,250 (GRCm39)	S47P	probably damaging	Het
Dus1l	G	A	11: 120,686,506 (GRCm39)	R12C	possibly damaging	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Epb41l4b	A	G	4: 57,076,556 (GRCm39)	V326A	probably damaging	Het
Fhdc1	T	C	3: 84,364,294 (GRCm39)		probably benign	Het
Gm27013	T	A	6: 130,654,110 (GRCm39)	T451S	probably benign	Het
Ifi208	A	T	1: 173,510,267 (GRCm39)	M141L	probably benign	Het
Inpp5e	A	G	2: 26,290,937 (GRCm39)	S377P	probably damaging	Het
Kat2a	A	G	11: 100,596,092 (GRCm39)	L822P	probably damaging	Het
Kcnip2	G	C	19: 45,800,654 (GRCm39)	T24S	probably benign	Het
Med17	A	G	9: 15,178,765 (GRCm39)	Y469H	possibly damaging	Het
Mindy3	C	T	2: 12,410,676 (GRCm39)	C77Y	probably damaging	Het
Mmp1a	A	G	9: 7,467,236 (GRCm39)	T271A	probably benign	Het
Ncor2	A	T	5: 125,128,020 (GRCm39)	S118T	probably damaging	Het
Or5ak24	A	T	2: 85,260,962 (GRCm39)	D70E	probably damaging	Het
Osmr	A	T	15: 6,882,027 (GRCm39)	V39D	probably damaging	Het
Pcdh15	G	A	10: 74,467,829 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,763,889 (GRCm39)	K836E	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pik3r1	A	T	13: 101,838,240 (GRCm39)	L272H	probably damaging	Het
Pik3r1	G	A	13: 101,838,241 (GRCm39)	L272F	probably benign	Het
Prrc2b	G	GCT	2: 32,108,820 (GRCm39)		probably benign	Het
Ptprq	T	G	10: 107,547,778 (GRCm39)	I207L	probably benign	Het
Rasa2	G	T	9: 96,442,830 (GRCm39)	T531K	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a6	G	A	9: 108,731,416 (GRCm39)		probably benign	Het
Slc7a13	G	A	4: 19,819,492 (GRCm39)	G231R	probably null	Het
Slco3a1	T	A	7: 73,968,302 (GRCm39)	N473Y	probably damaging	Het
Tapt1	G	A	5: 44,334,447 (GRCm39)	L515F	probably benign	Het
Tmem145	T	C	7: 25,008,218 (GRCm39)	I253T	probably benign	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Unc13a	A	G	8: 72,120,368 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,173,970 (GRCm39)	V101A	probably benign	Het
Zfp36l3	T	C	X: 52,777,840 (GRCm39)	T125A	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
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'- GTAAGTCTAAAAGCCATACTACAGTC -3'
(R):5'- CAGATTCCAAAAGGATTTCTTACGAC -3'

Sequencing Primer
(F):5'- TACTACAGTCATAATCTTACTGCACC -3'
(R):5'- ACTTATTATGTTCTATGCCAAGGGG -3'

Posted On

2015-06-10