Mutagenetix > Incidental Mutations

Incidental Mutation 'R4979:Arfgef1'

384642

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

042574-MU

Accession Numbers

Genbank: NM_001102430.1

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4979 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10137571-10232670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10213109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 192 (T192A)

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: T192A

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

SMART Domains

Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: T192A

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: T192A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: T192A

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

Meta Mutation Damage Score

0.1241

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (79/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,001,811	E381K	probably damaging	Het
Abca1	T	C	4: 53,085,092		probably null	Het
Abca7	C	T	10: 80,004,783	Q870*	probably null	Het
Ambp	C	T	4: 63,152,651	V64M	probably benign	Het
Ank1	T	C	8: 23,132,196	V1542A	probably damaging	Het
Anln	T	C	9: 22,376,501	Y168C	probably benign	Het
Apoa4	T	A	9: 46,241,505	N29K	probably benign	Het
Atad2b	G	T	12: 5,034,513	D1420Y	probably damaging	Het
Baiap3	A	G	17: 25,246,362	W648R	possibly damaging	Het
Bank1	A	G	3: 136,254,901	L198P	probably damaging	Het
Bicd2	A	G	13: 49,379,464	K509E	possibly damaging	Het
Cacna1e	T	C	1: 154,413,993	D1821G	probably damaging	Het
Ccdc80	G	A	16: 45,116,287	V692M	possibly damaging	Het
Ccdc88a	C	T	11: 29,482,133	Q308*	probably null	Het
Ccl8	T	C	11: 82,116,147	V62A	probably damaging	Het
Clspn	C	A	4: 126,578,386	P951Q	probably damaging	Het
Cngb1	T	A	8: 95,259,157	I858F	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Ctc1	C	T	11: 69,033,502	A960V	probably damaging	Het
Ctnnd2	A	G	15: 31,009,075	E1106G	probably damaging	Het
Dido1	C	T	2: 180,660,813	R1766H	probably damaging	Het
Dnajc13	G	T	9: 104,186,723	N1341K	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
E2f8	G	A	7: 48,875,170		probably benign	Het
Entpd8	A	G	2: 25,082,955	D91G	possibly damaging	Het
Fam69a	A	T	5: 107,909,534	L386*	probably null	Het
Fars2	A	G	13: 36,204,581	R18G	possibly damaging	Het
Fcgbp	A	G	7: 28,117,570	S2486G	probably benign	Het
Fibin	C	T	2: 110,362,618	D60N	possibly damaging	Het
Fpgs	A	G	2: 32,687,367		probably benign	Het
Galnt15	A	G	14: 32,043,290	D303G	probably damaging	Het
Gli3	C	A	13: 15,724,464	T812K	possibly damaging	Het
Gpbar1	G	C	1: 74,279,245	A216P	probably benign	Het
Grin2d	A	G	7: 45,857,933	I448T	probably benign	Het
Il21	C	A	3: 37,232,504	S21I	probably damaging	Het
Iqce	G	T	5: 140,691,621	D148E	probably damaging	Het
Iqcg	T	A	16: 33,019,514	E354V	probably damaging	Het
Iws1	T	C	18: 32,093,267		probably benign	Het
Ly75	C	T	2: 60,375,894	G144S	probably damaging	Het
Marco	C	A	1: 120,494,225	M83I	probably benign	Het
Mettl6	A	T	14: 31,479,795	L185H	probably damaging	Het
Mppe1	C	T	18: 67,229,702	G154D	probably damaging	Het
Mrpl42	T	C	10: 95,490,375	E85G	probably benign	Het
Neb	A	G	2: 52,189,909	V5518A	probably damaging	Het
Olfr103	A	T	17: 37,336,868	F121L	probably benign	Het
Olfr1458	A	T	19: 13,102,689	I199N	probably damaging	Het
Olfr656	T	A	7: 104,618,605	F317I	probably null	Het
Olfr77	G	T	9: 19,920,359	S50I	probably benign	Het
Olfr8	T	A	10: 78,955,932	C242*	probably null	Het
Perm1	A	G	4: 156,217,577	T193A	probably benign	Het
Prkd2	T	A	7: 16,848,727	C172S	probably damaging	Het
Prr23a3	T	A	9: 98,865,378	D128E	possibly damaging	Het
Prss28	A	G	17: 25,309,737	Y51C	probably damaging	Het
Psmb1	A	T	17: 15,476,189	M85K	probably benign	Het
Rae1	T	A	2: 173,012,608		probably benign	Het
Rasal1	A	G	5: 120,678,676	D759G	probably benign	Het
Rcvrn	G	A	11: 67,695,420	G2R	probably damaging	Het
Robo3	C	T	9: 37,423,344	A597T	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907		probably benign	Homo
Sdcbp	T	A	4: 6,378,980	Y22*	probably null	Het
Sin3a	T	C	9: 57,118,076	F1069L	probably damaging	Het
Slitrk3	C	T	3: 73,049,796	V548I	possibly damaging	Het
Tbc1d22a	A	G	15: 86,391,086	H403R	probably damaging	Het
Tbr1	G	T	2: 61,805,249		probably null	Het
Tiam2	T	A	17: 3,505,710	D65E	probably damaging	Het
Tpcn2	A	G	7: 145,260,096	S488P	probably benign	Het
Trav9-2	T	C	14: 53,591,238	S22P	probably damaging	Het
Trim34a	T	A	7: 104,247,862	N44K	probably benign	Het
Unc79	C	G	12: 103,112,432	P1619A	probably benign	Het
Usp22	A	T	11: 61,157,216	V426E	probably damaging	Het
Vhl	A	T	6: 113,624,198	M20L	unknown	Het
Vmn1r215	G	A	13: 23,075,894	A35T	probably benign	Het
Vmn1r222	G	A	13: 23,232,432	L204F	possibly damaging	Het
Zfp871	A	T	17: 32,775,855	H115Q	probably damaging	Het
Zpr1	T	A	9: 46,278,342	F340L	probably benign	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
G1Funyon:Arfgef1	UTSW	1	10179833	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
R1745:Arfgef1	UTSW	1	10173255	missense	probably damaging	1.00
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
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
R7968:Arfgef1	UTSW	1	10172920	missense	probably damaging	1.00
R8195:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00
R8292:Arfgef1	UTSW	1	10156969	missense	probably benign	0.06
R8301:Arfgef1	UTSW	1	10179833	missense	probably damaging	1.00
R8341:Arfgef1	UTSW	1	10154328	missense	probably benign	0.37
R8410:Arfgef1	UTSW	1	10159642	missense	possibly damaging	0.94
R8411:Arfgef1	UTSW	1	10216534	missense	probably benign	0.01
R8793:Arfgef1	UTSW	1	10142607	missense	possibly damaging	0.95
R8903:Arfgef1	UTSW	1	10141613	missense	probably damaging	1.00
R8955:Arfgef1	UTSW	1	10199837	missense	probably benign	0.25
R9036:Arfgef1	UTSW	1	10188830	missense	probably benign	0.01
R9185:Arfgef1	UTSW	1	10144779	missense	probably damaging	1.00
R9252:Arfgef1	UTSW	1	10172897	nonsense	probably null
R9333:Arfgef1	UTSW	1	10151812	nonsense	probably null
R9335:Arfgef1	UTSW	1	10158011	missense	probably damaging	1.00
R9348:Arfgef1	UTSW	1	10213194	missense	probably benign	0.03
R9355:Arfgef1	UTSW	1	10199775	missense	probably benign	0.00
V1662:Arfgef1	UTSW	1	10173253	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCAAGGCAAGCAAGTC -3'
(R):5'- CATCACTACCTAAAGTGTCATTGTC -3'

Sequencing Primer
(F):5'- TTTCAAGGCAAGCAAGTCAGTAAAGC -3'
(R):5'- ACTTACCGCAGTGACATC -3'

Posted On

2016-05-10