Mutagenetix > Incidental Mutation

Incidental Mutation 'R9729:Arfgap3'

731259

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

Accession Numbers

Essential gene?

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

Stock #

R9729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83183940-83234448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83192366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 411 (R411H)

Ref Sequence

ENSEMBL: ENSMUSP00000064893 (fasta)

Gene Model

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

AlphaFold

Q9D8S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067215
AA Change: R411H

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

SMART Domains

Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: R411H

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 damaging
Transcript: ENSMUST00000226124
AA Change: R410H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226764

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,519 (GRCm39)	M273K	probably benign	Het
Aar2	A	G	2: 156,393,361 (GRCm39)	D250G	probably benign	Het
Acly	T	A	11: 100,407,711 (GRCm39)	Y213F	probably benign	Het
Adgrg5	G	A	8: 95,668,133 (GRCm39)	M399I		Het
Adhfe1	T	C	1: 9,623,634 (GRCm39)	L95P	probably damaging	Het
Ano7	G	A	1: 93,322,180 (GRCm39)	C396Y	probably damaging	Het
Apob	T	A	12: 8,066,125 (GRCm39)	Y4365N	probably damaging	Het
Bbs7	T	C	3: 36,661,818 (GRCm39)	Y127C	probably damaging	Het
Cadps2	T	C	6: 23,382,982 (GRCm39)	T793A	probably benign	Het
Casp8ap2	T	A	4: 32,643,807 (GRCm39)	V960E	possibly damaging	Het
Cd200l1	G	T	16: 45,264,237 (GRCm39)	T107N	possibly damaging	Het
Cdkl3	A	G	11: 51,895,770 (GRCm39)	T6A	probably benign	Het
Cdkn2aip	T	C	8: 48,166,654 (GRCm39)	D51G	probably benign	Het
Cdpf1	G	T	15: 85,692,527 (GRCm39)	S52*	probably null	Het
Celf5	T	A	10: 81,303,925 (GRCm39)	D177V	probably damaging	Het
Cep164	A	G	9: 45,682,897 (GRCm39)	V931A	probably damaging	Het
Cog6	T	C	3: 52,900,907 (GRCm39)	D457G	probably damaging	Het
Col4a2	G	T	8: 11,496,157 (GRCm39)	V1593L	probably benign	Het
Dlg5	C	G	14: 24,204,681 (GRCm39)	M1287I	probably benign	Het
Dmrt1	T	C	19: 25,523,362 (GRCm39)	S238P	probably benign	Het
Dpysl2	A	G	14: 67,099,927 (GRCm39)	M103T	probably benign	Het
Emsy	C	A	7: 98,262,256 (GRCm39)	A608S	probably benign	Het
Entr1	A	G	2: 26,278,645 (GRCm39)	F21S	unknown	Het
Entrep2	C	T	7: 64,806,056 (GRCm39)	G6S	probably benign	Het
Exoc5	A	T	14: 49,253,086 (GRCm39)	C576S	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,558 (GRCm39)	V214M	possibly damaging	Het
Fignl1	A	G	11: 11,752,219 (GRCm39)	S279P	probably benign	Het
Gimap1	A	G	6: 48,719,386 (GRCm39)	R71G	unknown	Het
Gm26727	A	T	2: 67,263,263 (GRCm39)	M88K	probably damaging	Het
Gm45861	T	A	8: 28,045,436 (GRCm39)	W1066R	unknown	Het
Gpr15	A	G	16: 58,538,249 (GRCm39)	L280S	possibly damaging	Het
Grin1	C	T	2: 25,187,422 (GRCm39)	W629*	probably null	Het
Grk5	C	T	19: 61,078,467 (GRCm39)	P508L	possibly damaging	Het
Hgf	A	T	5: 16,766,029 (GRCm39)	D55V	probably damaging	Het
Hipk1	T	A	3: 103,668,890 (GRCm39)	D502V	probably damaging	Het
Kmt2c	T	C	5: 25,489,758 (GRCm39)	K4394E	probably damaging	Het
Llgl2	A	G	11: 115,740,467 (GRCm39)	T388A	probably damaging	Het
Lsm14a	G	T	7: 34,088,898 (GRCm39)	S2R	probably damaging	Het
Madd	A	T	2: 91,000,544 (GRCm39)	M507K	possibly damaging	Het
Map2k3	G	T	11: 60,837,472 (GRCm39)	V191L		Het
Mapk8ip1	A	G	2: 92,217,060 (GRCm39)	S421P	probably damaging	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Myc	T	G	15: 61,859,935 (GRCm39)	C204G	probably damaging	Het
Nampt	A	G	12: 32,900,528 (GRCm39)	H491R	possibly damaging	Het
Noct	C	T	3: 51,157,267 (GRCm39)	Q202*	probably null	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or10b1	T	A	10: 78,355,949 (GRCm39)	F169Y	probably damaging	Het
Osbpl10	G	A	9: 115,052,804 (GRCm39)	V451M	probably damaging	Het
Osr2	T	A	15: 35,303,061 (GRCm39)	F312Y	probably benign	Het
Parp16	A	T	9: 65,137,097 (GRCm39)	I108F	possibly damaging	Het
Parp4	A	G	14: 56,885,888 (GRCm39)	T1656A	unknown	Het
Pnpla8	A	G	12: 44,330,657 (GRCm39)	I374V	probably benign	Het
Prss23	T	C	7: 89,159,931 (GRCm39)	N46S	probably benign	Het
Ptger2	T	C	14: 45,226,476 (GRCm39)	W19R	possibly damaging	Het
Rbl2	T	C	8: 91,805,527 (GRCm39)	S195P	probably damaging	Het
Rnf169	C	T	7: 99,575,477 (GRCm39)	V373I	probably damaging	Het
Sclt1	C	A	3: 41,629,837 (GRCm39)	E325*	probably null	Het
Sergef	C	T	7: 46,284,913 (GRCm39)	S43N	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc3a2	T	C	19: 8,685,370 (GRCm39)	D472G	probably damaging	Het
Slc43a3	T	C	2: 84,780,800 (GRCm39)	F342L	probably benign	Het
Slc44a4	A	T	17: 35,140,670 (GRCm39)	I288F	probably benign	Het
Snupn	T	A	9: 56,877,915 (GRCm39)	N151K	possibly damaging	Het
Srbd1	A	T	17: 86,437,550 (GRCm39)	D264E	probably benign	Het
Srpra	A	T	9: 35,125,569 (GRCm39)	T378S	probably benign	Het
Stat4	A	G	1: 52,141,762 (GRCm39)	D613G	possibly damaging	Het
Sycp2l	C	T	13: 41,326,132 (GRCm39)	P246L		Het
Tcf20	T	C	15: 82,736,037 (GRCm39)	R1805G	probably benign	Het
Tob1	T	A	11: 94,104,880 (GRCm39)	F139I	probably damaging	Het
Traj9	A	G	14: 54,446,871 (GRCm39)	T8A	unknown	Het
Trank1	G	T	9: 111,220,537 (GRCm39)	D2425Y	probably damaging	Het
Ttn	G	A	2: 76,738,071 (GRCm39)	S4202L	unknown	Het
Ttn	A	T	2: 76,577,267 (GRCm39)	M24542K	probably damaging	Het
Vcam1	T	C	3: 115,911,105 (GRCm39)	Y431C	probably damaging	Het
Vcpkmt	G	A	12: 69,627,936 (GRCm39)	R175C	probably damaging	Het
Vmn2r51	A	T	7: 9,839,479 (GRCm39)	D36E	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp831	T	C	2: 174,487,938 (GRCm39)	L871P	possibly damaging	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
R1459:Arfgap3	UTSW	15	83,191,138 (GRCm39)	missense	probably benign	0.15
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
Z1177:Arfgap3	UTSW	15	83,216,889 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCCTGTTCTCACATGGTC -3'
(R):5'- TTACACATGGAACCTGAGGTTG -3'

Sequencing Primer
(F):5'- ATGGTCCCCACAGCGAAG -3'
(R):5'- TGAGGTTGCCCCATAACTG -3'

Posted On

2022-10-06