Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Arfgap3'

161996

Institutional Source

Beutler Lab

Gene Symbol

Arfgap3

Ensembl Gene

ENSMUSG00000054277

Gene Name

ADP-ribosylation factor GTPase activating protein 3

Synonyms

1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R1459 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

83183940-83234448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83191138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 12 (T12I)

Ref Sequence

ENSEMBL: ENSMUSP00000154365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067215] [ENSMUST00000226124] [ENSMUST00000226764]

AlphaFold

Q9D8S3

Predicted Effect

probably benign
Transcript: ENSMUST00000067215
AA Change: T460I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: T460I

Domain	Start	End	E-Value	Type
ArfGap	10	126	7.18e-44	SMART
Blast:ArfGap	160	200	2e-6	BLAST
low complexity region	220	237	N/A	INTRINSIC
low complexity region	348	362	N/A	INTRINSIC
low complexity region	459	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226124
AA Change: T459I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226411

Predicted Effect

probably benign
Transcript: ENSMUST00000226764
AA Change: T12I

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226816

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,450,578 (GRCm39)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,752,920 (GRCm39)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,968,662 (GRCm39)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,034,583 (GRCm39)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,344,102 (GRCm39)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,507,550 (GRCm39)		probably null	Het
Ankrd13c	T	A	3: 157,677,947 (GRCm39)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,711,174 (GRCm39)	A97S	probably benign	Het
Apaf1	T	C	10: 90,898,022 (GRCm39)	N245S	probably benign	Het
Apob	A	G	12: 8,056,047 (GRCm39)	T1510A	probably benign	Het
Apob	A	G	12: 8,061,937 (GRCm39)	D3473G	possibly damaging	Het
Bend4	A	G	5: 67,557,418 (GRCm39)	V466A	probably damaging	Het
Bend7	G	A	2: 4,749,239 (GRCm39)	E119K	probably damaging	Het
Capn5	G	T	7: 97,781,049 (GRCm39)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,679,510 (GRCm39)	I63V	probably benign	Het
Cd86	T	A	16: 36,449,350 (GRCm39)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,262,734 (GRCm39)		probably benign	Het
Cep20	G	A	16: 14,122,380 (GRCm39)	T128I	possibly damaging	Het
Cep95	C	T	11: 106,708,781 (GRCm39)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,112,810 (GRCm39)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,755,453 (GRCm39)	M356K	probably damaging	Het
Coq7	C	T	7: 118,109,260 (GRCm39)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,445 (GRCm39)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,820,750 (GRCm39)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,938,476 (GRCm39)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,769,744 (GRCm39)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,456,717 (GRCm39)	M624I	probably damaging	Het
Fbxo42	T	C	4: 140,895,073 (GRCm39)	V12A	probably benign	Het
Gabarapl1	T	A	6: 129,515,635 (GRCm39)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,552,902 (GRCm39)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,483,650 (GRCm39)		noncoding transcript	Het
Gnl3	G	A	14: 30,739,803 (GRCm39)	R12C	probably damaging	Het
Golga2	T	G	2: 32,187,807 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,062,878 (GRCm39)	R656S	probably benign	Het
Gsap	T	A	5: 21,412,236 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,210,240 (GRCm39)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,056,755 (GRCm39)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,869,937 (GRCm39)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,468,302 (GRCm39)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,367,683 (GRCm39)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,313,738 (GRCm39)	D2331V	probably damaging	Het
Lrp2	T	A	2: 69,290,821 (GRCm39)	E3546D	probably damaging	Het
Lzts2	T	A	19: 45,009,893 (GRCm39)	V9E	probably damaging	Het
Matr3	T	A	18: 35,717,709 (GRCm39)	D302E	probably benign	Het
Mcoln2	A	G	3: 145,897,979 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,704,811 (GRCm39)	D272G	probably damaging	Het
Mitf	A	G	6: 97,987,428 (GRCm39)	D337G	probably damaging	Het
Mrtfb	T	C	16: 13,219,433 (GRCm39)	V693A	possibly damaging	Het
Msh2	A	G	17: 87,985,771 (GRCm39)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,523,555 (GRCm39)	M642L	probably benign	Het
Noxa1	G	T	2: 24,982,558 (GRCm39)	Q86K	probably benign	Het
Nrap	T	C	19: 56,372,562 (GRCm39)	T48A	probably benign	Het
Nup160	T	A	2: 90,520,494 (GRCm39)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,056,699 (GRCm39)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,385,409 (GRCm39)	N281S	probably benign	Het
Pcnp	C	T	16: 55,844,703 (GRCm39)	E66K	possibly damaging	Het
Phf11	T	A	14: 59,482,227 (GRCm39)	E175D	probably damaging	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 106,108,431 (GRCm39)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,918,203 (GRCm39)	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,871,055 (GRCm39)	Y82F	probably damaging	Het
Prkd3	T	C	17: 79,278,796 (GRCm39)	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,893,240 (GRCm39)	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,740,173 (GRCm39)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,797,695 (GRCm39)		probably null	Het
Sipa1	A	G	19: 5,701,692 (GRCm39)	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,066,489 (GRCm39)	C383*	probably null	Het
Slc19a1	C	G	10: 76,878,369 (GRCm39)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,052,827 (GRCm39)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,196,837 (GRCm39)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,743,333 (GRCm39)	H225Y	possibly damaging	Het
Son	T	C	16: 91,452,230 (GRCm39)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,658,657 (GRCm39)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,696,714 (GRCm39)		probably benign	Het
Tatdn2	T	A	6: 113,687,031 (GRCm39)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,877,516 (GRCm39)	R44L	probably benign	Het
Tenm3	G	A	8: 48,689,006 (GRCm39)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,822,931 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,650,188 (GRCm39)	I120N	probably damaging	Het
Umodl1	T	A	17: 31,201,232 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,205,478 (GRCm39)	V662A	probably benign	Het
Ush2a	T	C	1: 188,595,048 (GRCm39)	S3827P	probably benign	Het
Vasn	T	A	16: 4,466,473 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,055,908 (GRCm39)	C743*	probably null	Het
Vmn2r79	C	A	7: 86,687,002 (GRCm39)	H794Q	probably benign	Het

Other mutations in Arfgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Arfgap3	APN	15	83,206,790 (GRCm39)	missense	probably benign	0.04
IGL01306:Arfgap3	APN	15	83,197,710 (GRCm39)	missense	possibly damaging	0.78
IGL01960:Arfgap3	APN	15	83,197,758 (GRCm39)	missense	probably benign	0.04
IGL03029:Arfgap3	APN	15	83,206,851 (GRCm39)	missense	probably damaging	1.00
IGL03036:Arfgap3	APN	15	83,191,127 (GRCm39)	missense	possibly damaging	0.91
IGL03328:Arfgap3	APN	15	83,227,282 (GRCm39)	missense	probably damaging	1.00
ANU23:Arfgap3	UTSW	15	83,197,710 (GRCm39)	missense	possibly damaging	0.78
R0103:Arfgap3	UTSW	15	83,206,922 (GRCm39)	splice site	probably benign
R0103:Arfgap3	UTSW	15	83,206,922 (GRCm39)	splice site	probably benign
R0125:Arfgap3	UTSW	15	83,227,340 (GRCm39)	missense	probably benign	0.01
R0243:Arfgap3	UTSW	15	83,214,714 (GRCm39)	splice site	probably benign
R0551:Arfgap3	UTSW	15	83,227,338 (GRCm39)	missense	probably damaging	1.00
R0557:Arfgap3	UTSW	15	83,187,386 (GRCm39)	missense	probably damaging	1.00
R0638:Arfgap3	UTSW	15	83,192,389 (GRCm39)	splice site	probably null
R1115:Arfgap3	UTSW	15	83,214,741 (GRCm39)	missense	probably benign	0.00
R1576:Arfgap3	UTSW	15	83,197,764 (GRCm39)	missense	possibly damaging	0.94
R1776:Arfgap3	UTSW	15	83,227,340 (GRCm39)	missense	probably benign	0.01
R1826:Arfgap3	UTSW	15	83,187,303 (GRCm39)	critical splice donor site	probably null
R2057:Arfgap3	UTSW	15	83,194,501 (GRCm39)	missense	probably benign
R2084:Arfgap3	UTSW	15	83,218,767 (GRCm39)	missense	probably damaging	0.96
R3407:Arfgap3	UTSW	15	83,206,808 (GRCm39)	missense	probably benign	0.00
R4072:Arfgap3	UTSW	15	83,187,330 (GRCm39)	missense	probably damaging	1.00
R4074:Arfgap3	UTSW	15	83,187,330 (GRCm39)	missense	probably damaging	1.00
R4206:Arfgap3	UTSW	15	83,206,869 (GRCm39)	missense	probably benign
R4449:Arfgap3	UTSW	15	83,218,759 (GRCm39)	missense	probably damaging	1.00
R5004:Arfgap3	UTSW	15	83,194,497 (GRCm39)	missense	possibly damaging	0.87
R5193:Arfgap3	UTSW	15	83,216,898 (GRCm39)	missense	probably benign	0.01
R5364:Arfgap3	UTSW	15	83,198,562 (GRCm39)	missense	probably damaging	1.00
R6142:Arfgap3	UTSW	15	83,234,328 (GRCm39)	missense	probably damaging	1.00
R6813:Arfgap3	UTSW	15	83,214,794 (GRCm39)	missense	probably benign	0.00
R7154:Arfgap3	UTSW	15	83,220,905 (GRCm39)	missense	probably damaging	1.00
R7422:Arfgap3	UTSW	15	83,191,150 (GRCm39)	missense	probably damaging	0.97
R7582:Arfgap3	UTSW	15	83,187,302 (GRCm39)	missense	possibly damaging	0.77
R7714:Arfgap3	UTSW	15	83,192,352 (GRCm39)	missense	probably benign	0.34
R8269:Arfgap3	UTSW	15	83,194,542 (GRCm39)	missense	probably benign	0.01
R9352:Arfgap3	UTSW	15	83,191,127 (GRCm39)	missense	possibly damaging	0.82
R9712:Arfgap3	UTSW	15	83,197,734 (GRCm39)	missense	probably benign	0.02
R9729:Arfgap3	UTSW	15	83,192,366 (GRCm39)	missense	probably damaging	1.00
Z1177:Arfgap3	UTSW	15	83,216,889 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAGGCTTAGGGTACTAGGGTGTG -3'
(R):5'- TCTTAAAACTGATGGGCTGAAGGGC -3'

Sequencing Primer
(F):5'- AGGGTACTAGGGTGTGGAATC -3'
(R):5'- acacatatacacatacatacacacac -3'

Posted On

2014-03-14