Mutagenetix > Incidental Mutations

Incidental Mutation 'R1745:Arfgef1'

193901

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

039777-MU

Accession Numbers

Genbank: NM_001102430.1

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10137571-10232670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10173255 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 1023 (I1023R)

Ref Sequence

ENSEMBL: ENSMUSP00000085986 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088615
AA Change: I1023R

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

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: I1023R

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 damaging
Transcript: ENSMUST00000131556
AA Change: I1023R

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

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: I1023R

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

Meta Mutation Damage Score

0.8231

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	G	11: 29,824,723	S245P	probably benign	Het
Abcc10	A	T	17: 46,312,433	V851E	probably benign	Het
Adam28	A	G	14: 68,633,171	I351T	probably benign	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Ap2a1	T	C	7: 44,906,945	E285G	probably damaging	Het
Atp2c2	G	A	8: 119,725,094	V133I	probably benign	Het
Bpifb6	A	G	2: 153,911,483	T401A	possibly damaging	Het
Capn3	G	A	2: 120,489,689	V283M	possibly damaging	Het
Chd6	A	T	2: 160,981,667	V1261E	probably damaging	Het
Col22a1	C	T	15: 72,006,787	A174T	probably damaging	Het
Crnn	T	C	3: 93,146,891	V27A	probably benign	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkd	T	C	1: 87,932,044		probably null	Het
Diaph3	A	G	14: 86,966,560	L554P	probably damaging	Het
Ephb4	A	T	5: 137,360,434	H293L	probably benign	Het
Erbin	G	T	13: 103,839,449	H646N	probably damaging	Het
Faiml	T	C	9: 99,234,458	N60D	probably benign	Het
Flot1	A	G	17: 35,824,660	E102G	probably damaging	Het
Fryl	G	A	5: 73,032,861		probably benign	Het
Gad1-ps	A	T	10: 99,445,524		noncoding transcript	Het
Gtf3c3	A	G	1: 54,434,212	S81P	probably damaging	Het
Hs1bp3	C	T	12: 8,321,690	Q91*	probably null	Het
Igf1r	T	C	7: 68,169,913	C324R	probably damaging	Het
Il23r	G	A	6: 67,466,291	T276I	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Kctd1	A	T	18: 15,063,206		probably benign	Het
Kmt2b	A	T	7: 30,585,850	M539K	possibly damaging	Het
Man2b1	T	A	8: 85,093,934	F617I	probably damaging	Het
Med15	G	A	16: 17,655,706		probably benign	Het
Myo9b	A	G	8: 71,354,047	K1543R	probably damaging	Het
N4bp2	A	G	5: 65,790,822	Y265C	probably benign	Het
N4bp2l2	A	T	5: 150,661,959	N185K	probably benign	Het
Nkx2-1	A	G	12: 56,533,744	M137T	probably benign	Het
Olfr638	A	G	7: 104,004,063	T269A	probably benign	Het
Prickle2	A	T	6: 92,376,593	Y631N	probably damaging	Het
Ptpro	A	G	6: 137,400,645	T698A	probably benign	Het
Rapgef3	T	C	15: 97,750,178	I690V	probably benign	Het
Rnf44	G	A	13: 54,682,192	R271W	probably damaging	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,400,913		probably null	Het
Ryr2	A	G	13: 11,790,267	Y904H	probably damaging	Het
Suz12	T	C	11: 80,022,096	L322P	probably damaging	Het
Tnfsf13	G	A	11: 69,685,147	A38V	probably benign	Het
Topbp1	G	A	9: 103,308,845	R62H	probably benign	Het
Tor1aip1	G	T	1: 156,030,434		probably null	Het
Trpv4	A	T	5: 114,633,154	V438E	probably damaging	Het
Tsku	A	T	7: 98,352,179	V315E	possibly damaging	Het
Ttc38	T	C	15: 85,833,172	L16P	probably damaging	Het
Vmn1r170	A	G	7: 23,606,334	I54V	probably damaging	Het
Vmn1r71	T	C	7: 10,748,269	D98G	probably benign	Het
Wdfy3	A	T	5: 101,948,929	D334E	probably damaging	Het
Zfhx3	T	A	8: 108,955,862	F3311Y	unknown	Het
Zswim9	A	G	7: 13,269,556	S123P	probably damaging	Het

Other mutations in Arfgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Arfgef1	APN	1	10199787	missense	probably benign
IGL00919:Arfgef1	APN	1	10173237	missense	probably damaging	1.00
IGL01022:Arfgef1	APN	1	10174076	missense	probably damaging	1.00
IGL01155:Arfgef1	APN	1	10198982	splice site	probably benign
IGL01288:Arfgef1	APN	1	10213211	missense	possibly damaging	0.67
IGL01397:Arfgef1	APN	1	10159571	missense	probably benign	0.40
IGL01433:Arfgef1	APN	1	10153432	missense	probably damaging	1.00
IGL01653:Arfgef1	APN	1	10159908	nonsense	probably null
IGL01669:Arfgef1	APN	1	10159615	missense	probably damaging	1.00
IGL01795:Arfgef1	APN	1	10147528	missense	probably benign	0.01
IGL01860:Arfgef1	APN	1	10154396	missense	probably damaging	1.00
IGL02137:Arfgef1	APN	1	10213113	missense	probably damaging	1.00
IGL02365:Arfgef1	APN	1	10199883	missense	probably benign	0.00
IGL02519:Arfgef1	APN	1	10209668	missense	probably benign	0.13
IGL02542:Arfgef1	APN	1	10172842	missense	probably benign	0.24
IGL02604:Arfgef1	APN	1	10181050	splice site	probably benign
IGL02743:Arfgef1	APN	1	10199829	missense	probably benign	0.00
IGL03225:Arfgef1	APN	1	10154318	missense	probably damaging	1.00
Collected	UTSW	1	10180938	missense	probably damaging	1.00
uncle_joe	UTSW	1	10160835	missense	probably damaging	1.00
I2288:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
I2289:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
R0383:Arfgef1	UTSW	1	10198842	critical splice donor site	probably null
R0491:Arfgef1	UTSW	1	10179987	splice site	probably benign
R0636:Arfgef1	UTSW	1	10199851	missense	probably benign
R1006:Arfgef1	UTSW	1	10140481	missense	probably benign	0.00
R1212:Arfgef1	UTSW	1	10216559	missense	probably benign	0.05
R1233:Arfgef1	UTSW	1	10184090	missense	probably damaging	1.00
R1346:Arfgef1	UTSW	1	10159733	missense	probably benign	0.41
R1416:Arfgef1	UTSW	1	10172939	missense	probably damaging	1.00
R1477:Arfgef1	UTSW	1	10189284	missense	probably damaging	1.00
R1581:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R1587:Arfgef1	UTSW	1	10159959	missense	probably damaging	0.99
R1602:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1831:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1832:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1833:Arfgef1	UTSW	1	10204890	missense	probably benign	0.01
R1918:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R1919:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2059:Arfgef1	UTSW	1	10188752	splice site	probably null
R2146:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2148:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2149:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2150:Arfgef1	UTSW	1	10199878	missense	probably benign	0.02
R2373:Arfgef1	UTSW	1	10174142	missense	probably damaging	1.00
R2516:Arfgef1	UTSW	1	10153654	missense	possibly damaging	0.89
R3863:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3916:Arfgef1	UTSW	1	10189443	missense	probably benign	0.01
R3948:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3949:Arfgef1	UTSW	1	10142586	frame shift	probably null
R3977:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R3978:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R3979:Arfgef1	UTSW	1	10209634	missense	probably benign	0.01
R4086:Arfgef1	UTSW	1	10163759	missense	probably benign	0.06
R4175:Arfgef1	UTSW	1	10159636	missense	probably damaging	1.00
R4257:Arfgef1	UTSW	1	10159546	intron	probably benign
R4572:Arfgef1	UTSW	1	10213141	missense	probably damaging	1.00
R4652:Arfgef1	UTSW	1	10173262	missense	probably damaging	0.98
R4678:Arfgef1	UTSW	1	10142666	missense	probably benign	0.03
R4737:Arfgef1	UTSW	1	10189611	missense	possibly damaging	0.85
R4779:Arfgef1	UTSW	1	10153733	missense	probably damaging	1.00
R4818:Arfgef1	UTSW	1	10216547	missense	probably benign
R4898:Arfgef1	UTSW	1	10159573	missense	possibly damaging	0.75
R4979:Arfgef1	UTSW	1	10213109	missense	probably damaging	1.00
R5039:Arfgef1	UTSW	1	10199736	missense	probably benign	0.37
R5194:Arfgef1	UTSW	1	10204907	missense	probably benign	0.09
R5428:Arfgef1	UTSW	1	10160835	missense	probably damaging	1.00
R5533:Arfgef1	UTSW	1	10199727	critical splice donor site	probably null
R5547:Arfgef1	UTSW	1	10160976	missense	probably damaging	1.00
R5562:Arfgef1	UTSW	1	10144746	missense	probably damaging	1.00
R5635:Arfgef1	UTSW	1	10188860	missense	possibly damaging	0.81
R5697:Arfgef1	UTSW	1	10160838	missense	probably benign	0.03
R5704:Arfgef1	UTSW	1	10159583	missense	probably damaging	0.98
R5722:Arfgef1	UTSW	1	10138884	missense	probably benign	0.04
R5793:Arfgef1	UTSW	1	10209528	missense	probably benign	0.01
R5835:Arfgef1	UTSW	1	10160739	missense	probably damaging	1.00
R5870:Arfgef1	UTSW	1	10180938	missense	probably damaging	1.00
R5990:Arfgef1	UTSW	1	10172921	missense	probably damaging	0.99
R6290:Arfgef1	UTSW	1	10188811	missense	possibly damaging	0.91
R6460:Arfgef1	UTSW	1	10213060	missense	probably damaging	1.00
R6613:Arfgef1	UTSW	1	10194396	missense	possibly damaging	0.95
R6802:Arfgef1	UTSW	1	10189452	missense	probably benign	0.35
R6967:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6967:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6968:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6968:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6969:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6969:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R6970:Arfgef1	UTSW	1	10153678	missense	probably damaging	1.00
R6970:Arfgef1	UTSW	1	10153679	missense	probably damaging	0.99
R7092:Arfgef1	UTSW	1	10153676	missense	probably damaging	1.00
R7251:Arfgef1	UTSW	1	10198975	missense	possibly damaging	0.81
R7334:Arfgef1	UTSW	1	10184460	missense	probably damaging	1.00
R7399:Arfgef1	UTSW	1	10180897	missense	probably benign	0.00
R7631:Arfgef1	UTSW	1	10232469	missense	probably benign	0.00
R7699:Arfgef1	UTSW	1	10194411	missense	possibly damaging	0.78
R7700:Arfgef1	UTSW	1	10194411	missense	possibly damaging	0.78
R7772:Arfgef1	UTSW	1	10157010	missense	possibly damaging	0.96
V1662:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTCAGGATCTACAGCACAGAAA -3'
(R):5'- GAATTGTCGGTTCAGGTTGTGTCTAGAA -3'

Sequencing Primer
(F):5'- TCTACAGCACAGAAAGAAAAAAAAAG -3'
(R):5'- AGCGCATAGACAGTTGGTTTAC -3'

Posted On

2014-05-23