Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Arfgef1'

573998

Institutional Source

Beutler Lab

Gene Symbol

Arfgef1

Ensembl Gene

ENSMUSG00000067851

Gene Name

ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)

Synonyms

P200, ARFGEP1, BIG1, D130059B05Rik, D730028O18Rik

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10137571-10232670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10180897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 888 (T888S)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

AlphaFold

G3X9K3

Predicted Effect

probably benign
Transcript: ENSMUST00000088615
AA Change: T888S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: T888S

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
AA Change: T888S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: T888S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
C87499	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Olfr996	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Spert	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Arfgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Arfgef1	APN	1	10,199,787 (GRCm38)	missense	probably benign
IGL00919:Arfgef1	APN	1	10,173,237 (GRCm38)	missense	probably damaging	1.00
IGL01022:Arfgef1	APN	1	10,174,076 (GRCm38)	missense	probably damaging	1.00
IGL01155:Arfgef1	APN	1	10,198,982 (GRCm38)	splice site	probably benign
IGL01288:Arfgef1	APN	1	10,213,211 (GRCm38)	missense	possibly damaging	0.67
IGL01397:Arfgef1	APN	1	10,159,571 (GRCm38)	missense	probably benign	0.40
IGL01433:Arfgef1	APN	1	10,153,432 (GRCm38)	missense	probably damaging	1.00
IGL01653:Arfgef1	APN	1	10,159,908 (GRCm38)	nonsense	probably null
IGL01669:Arfgef1	APN	1	10,159,615 (GRCm38)	missense	probably damaging	1.00
IGL01795:Arfgef1	APN	1	10,147,528 (GRCm38)	missense	probably benign	0.01
IGL01860:Arfgef1	APN	1	10,154,396 (GRCm38)	missense	probably damaging	1.00
IGL02137:Arfgef1	APN	1	10,213,113 (GRCm38)	missense	probably damaging	1.00
IGL02365:Arfgef1	APN	1	10,199,883 (GRCm38)	missense	probably benign	0.00
IGL02519:Arfgef1	APN	1	10,209,668 (GRCm38)	missense	probably benign	0.13
IGL02542:Arfgef1	APN	1	10,172,842 (GRCm38)	missense	probably benign	0.24
IGL02604:Arfgef1	APN	1	10,181,050 (GRCm38)	splice site	probably benign
IGL02743:Arfgef1	APN	1	10,199,829 (GRCm38)	missense	probably benign	0.00
IGL03225:Arfgef1	APN	1	10,154,318 (GRCm38)	missense	probably damaging	1.00
Collected	UTSW	1	10,180,938 (GRCm38)	missense	probably damaging	1.00
uncle_joe	UTSW	1	10,160,835 (GRCm38)	missense	probably damaging	1.00
G1Funyon:Arfgef1	UTSW	1	10,179,833 (GRCm38)	missense	probably damaging	1.00
I2288:Arfgef1	UTSW	1	10,173,253 (GRCm38)	missense	probably damaging	1.00
I2289:Arfgef1	UTSW	1	10,173,253 (GRCm38)	missense	probably damaging	1.00
R0383:Arfgef1	UTSW	1	10,198,842 (GRCm38)	critical splice donor site	probably null
R0491:Arfgef1	UTSW	1	10,179,987 (GRCm38)	splice site	probably benign
R0636:Arfgef1	UTSW	1	10,199,851 (GRCm38)	missense	probably benign
R1006:Arfgef1	UTSW	1	10,140,481 (GRCm38)	missense	probably benign	0.00
R1212:Arfgef1	UTSW	1	10,216,559 (GRCm38)	missense	probably benign	0.05
R1233:Arfgef1	UTSW	1	10,184,090 (GRCm38)	missense	probably damaging	1.00
R1346:Arfgef1	UTSW	1	10,159,733 (GRCm38)	missense	probably benign	0.41
R1416:Arfgef1	UTSW	1	10,172,939 (GRCm38)	missense	probably damaging	1.00
R1477:Arfgef1	UTSW	1	10,189,284 (GRCm38)	missense	probably damaging	1.00
R1581:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R1587:Arfgef1	UTSW	1	10,159,959 (GRCm38)	missense	probably damaging	0.99
R1602:Arfgef1	UTSW	1	10,204,890 (GRCm38)	missense	probably benign	0.01
R1745:Arfgef1	UTSW	1	10,173,255 (GRCm38)	missense	probably damaging	1.00
R1831:Arfgef1	UTSW	1	10,204,890 (GRCm38)	missense	probably benign	0.01
R1832:Arfgef1	UTSW	1	10,204,890 (GRCm38)	missense	probably benign	0.01
R1833:Arfgef1	UTSW	1	10,204,890 (GRCm38)	missense	probably benign	0.01
R1918:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R1919:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R2059:Arfgef1	UTSW	1	10,188,752 (GRCm38)	splice site	probably null
R2146:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R2148:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R2149:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R2150:Arfgef1	UTSW	1	10,199,878 (GRCm38)	missense	probably benign	0.02
R2373:Arfgef1	UTSW	1	10,174,142 (GRCm38)	missense	probably damaging	1.00
R2516:Arfgef1	UTSW	1	10,153,654 (GRCm38)	missense	possibly damaging	0.89
R3863:Arfgef1	UTSW	1	10,142,586 (GRCm38)	frame shift	probably null
R3916:Arfgef1	UTSW	1	10,189,443 (GRCm38)	missense	probably benign	0.01
R3948:Arfgef1	UTSW	1	10,142,586 (GRCm38)	frame shift	probably null
R3949:Arfgef1	UTSW	1	10,142,586 (GRCm38)	frame shift	probably null
R3977:Arfgef1	UTSW	1	10,209,634 (GRCm38)	missense	probably benign	0.01
R3978:Arfgef1	UTSW	1	10,209,634 (GRCm38)	missense	probably benign	0.01
R3979:Arfgef1	UTSW	1	10,209,634 (GRCm38)	missense	probably benign	0.01
R4086:Arfgef1	UTSW	1	10,163,759 (GRCm38)	missense	probably benign	0.06
R4175:Arfgef1	UTSW	1	10,159,636 (GRCm38)	missense	probably damaging	1.00
R4257:Arfgef1	UTSW	1	10,159,546 (GRCm38)	intron	probably benign
R4572:Arfgef1	UTSW	1	10,213,141 (GRCm38)	missense	probably damaging	1.00
R4652:Arfgef1	UTSW	1	10,173,262 (GRCm38)	missense	probably damaging	0.98
R4678:Arfgef1	UTSW	1	10,142,666 (GRCm38)	missense	probably benign	0.03
R4737:Arfgef1	UTSW	1	10,189,611 (GRCm38)	missense	possibly damaging	0.85
R4779:Arfgef1	UTSW	1	10,153,733 (GRCm38)	missense	probably damaging	1.00
R4818:Arfgef1	UTSW	1	10,216,547 (GRCm38)	missense	probably benign
R4898:Arfgef1	UTSW	1	10,159,573 (GRCm38)	missense	possibly damaging	0.75
R4979:Arfgef1	UTSW	1	10,213,109 (GRCm38)	missense	probably damaging	1.00
R5039:Arfgef1	UTSW	1	10,199,736 (GRCm38)	missense	probably benign	0.37
R5194:Arfgef1	UTSW	1	10,204,907 (GRCm38)	missense	probably benign	0.09
R5428:Arfgef1	UTSW	1	10,160,835 (GRCm38)	missense	probably damaging	1.00
R5533:Arfgef1	UTSW	1	10,199,727 (GRCm38)	critical splice donor site	probably null
R5547:Arfgef1	UTSW	1	10,160,976 (GRCm38)	missense	probably damaging	1.00
R5562:Arfgef1	UTSW	1	10,144,746 (GRCm38)	missense	probably damaging	1.00
R5635:Arfgef1	UTSW	1	10,188,860 (GRCm38)	missense	possibly damaging	0.81
R5697:Arfgef1	UTSW	1	10,160,838 (GRCm38)	missense	probably benign	0.03
R5704:Arfgef1	UTSW	1	10,159,583 (GRCm38)	missense	probably damaging	0.98
R5722:Arfgef1	UTSW	1	10,138,884 (GRCm38)	missense	probably benign	0.04
R5793:Arfgef1	UTSW	1	10,209,528 (GRCm38)	missense	probably benign	0.01
R5835:Arfgef1	UTSW	1	10,160,739 (GRCm38)	missense	probably damaging	1.00
R5870:Arfgef1	UTSW	1	10,180,938 (GRCm38)	missense	probably damaging	1.00
R5990:Arfgef1	UTSW	1	10,172,921 (GRCm38)	missense	probably damaging	0.99
R6290:Arfgef1	UTSW	1	10,188,811 (GRCm38)	missense	possibly damaging	0.91
R6460:Arfgef1	UTSW	1	10,213,060 (GRCm38)	missense	probably damaging	1.00
R6613:Arfgef1	UTSW	1	10,194,396 (GRCm38)	missense	possibly damaging	0.95
R6802:Arfgef1	UTSW	1	10,189,452 (GRCm38)	missense	probably benign	0.35
R6967:Arfgef1	UTSW	1	10,153,679 (GRCm38)	missense	probably damaging	0.99
R6967:Arfgef1	UTSW	1	10,153,678 (GRCm38)	missense	probably damaging	1.00
R6968:Arfgef1	UTSW	1	10,153,679 (GRCm38)	missense	probably damaging	0.99
R6968:Arfgef1	UTSW	1	10,153,678 (GRCm38)	missense	probably damaging	1.00
R6969:Arfgef1	UTSW	1	10,153,679 (GRCm38)	missense	probably damaging	0.99
R6969:Arfgef1	UTSW	1	10,153,678 (GRCm38)	missense	probably damaging	1.00
R6970:Arfgef1	UTSW	1	10,153,679 (GRCm38)	missense	probably damaging	0.99
R6970:Arfgef1	UTSW	1	10,153,678 (GRCm38)	missense	probably damaging	1.00
R7092:Arfgef1	UTSW	1	10,153,676 (GRCm38)	missense	probably damaging	1.00
R7251:Arfgef1	UTSW	1	10,198,975 (GRCm38)	missense	possibly damaging	0.81
R7334:Arfgef1	UTSW	1	10,184,460 (GRCm38)	missense	probably damaging	1.00
R7631:Arfgef1	UTSW	1	10,232,469 (GRCm38)	missense	probably benign	0.00
R7699:Arfgef1	UTSW	1	10,194,411 (GRCm38)	missense	possibly damaging	0.78
R7700:Arfgef1	UTSW	1	10,194,411 (GRCm38)	missense	possibly damaging	0.78
R7772:Arfgef1	UTSW	1	10,157,010 (GRCm38)	missense	possibly damaging	0.96
R7968:Arfgef1	UTSW	1	10,172,920 (GRCm38)	missense	probably damaging	1.00
R8195:Arfgef1	UTSW	1	10,173,253 (GRCm38)	missense	probably damaging	1.00
R8292:Arfgef1	UTSW	1	10,156,969 (GRCm38)	missense	probably benign	0.06
R8301:Arfgef1	UTSW	1	10,179,833 (GRCm38)	missense	probably damaging	1.00
R8341:Arfgef1	UTSW	1	10,154,328 (GRCm38)	missense	probably benign	0.37
R8410:Arfgef1	UTSW	1	10,159,642 (GRCm38)	missense	possibly damaging	0.94
R8411:Arfgef1	UTSW	1	10,216,534 (GRCm38)	missense	probably benign	0.01
R8793:Arfgef1	UTSW	1	10,142,607 (GRCm38)	missense	possibly damaging	0.95
R8903:Arfgef1	UTSW	1	10,141,613 (GRCm38)	missense	probably damaging	1.00
R8955:Arfgef1	UTSW	1	10,199,837 (GRCm38)	missense	probably benign	0.25
R9036:Arfgef1	UTSW	1	10,188,830 (GRCm38)	missense	probably benign	0.01
R9185:Arfgef1	UTSW	1	10,144,779 (GRCm38)	missense	probably damaging	1.00
R9252:Arfgef1	UTSW	1	10,172,897 (GRCm38)	nonsense	probably null
R9333:Arfgef1	UTSW	1	10,151,812 (GRCm38)	nonsense	probably null
R9335:Arfgef1	UTSW	1	10,158,011 (GRCm38)	missense	probably damaging	1.00
R9348:Arfgef1	UTSW	1	10,213,194 (GRCm38)	missense	probably benign	0.03
R9355:Arfgef1	UTSW	1	10,199,775 (GRCm38)	missense	probably benign	0.00
R9564:Arfgef1	UTSW	1	10,147,533 (GRCm38)	missense	probably benign	0.00
R9600:Arfgef1	UTSW	1	10,163,752 (GRCm38)	missense	probably benign	0.01
R9789:Arfgef1	UTSW	1	10,173,202 (GRCm38)	missense	probably damaging	1.00
V1662:Arfgef1	UTSW	1	10,173,253 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAACACATGTCAATTACTTAGTG -3'
(R):5'- ATTCCCAAGCGAGCCCTTAC -3'

Sequencing Primer
(F):5'- TGTGTAGTCATTCACCATTTTAACAC -3'
(R):5'- GAGCCCTTACCCAGATGCAG -3'

Posted On

2019-09-13