Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03328:Arfgap3'

416744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arfgap3

Ensembl Gene

ENSMUSG00000054277

Gene Name

ADP-ribosylation factor GTPase activating protein 3

Synonyms

1810035F16Rik, 1810004P07Rik, 9130416J18Rik, 0610009H19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

83183940-83234448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83227282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 43 (F43L)

Ref Sequence

ENSEMBL: ENSMUSP00000154712 (fasta)

Gene Model

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

AlphaFold

Q9D8S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067215
AA Change: F43L

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

SMART Domains

Protein: ENSMUSP00000064893
Gene: ENSMUSG00000054277
AA Change: F43L

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: F43L

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

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,211,355 (GRCm39)	M1556L	probably benign	Het
Aicda	T	G	6: 122,539,396 (GRCm39)	D187E	probably benign	Het
AW551984	T	C	9: 39,508,412 (GRCm39)	E368G	probably damaging	Het
Bbs4	T	C	9: 59,251,401 (GRCm39)	E33G	probably damaging	Het
Bcas1	T	A	2: 170,208,316 (GRCm39)	K437*	probably null	Het
Brwd1	A	T	16: 95,803,925 (GRCm39)	W2082R	probably damaging	Het
Card6	A	T	15: 5,134,927 (GRCm39)		probably benign	Het
Cd200r4	A	G	16: 44,653,882 (GRCm39)	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,619,148 (GRCm39)	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,370,374 (GRCm39)	F613C	probably damaging	Het
Clybl	G	T	14: 122,639,406 (GRCm39)	K323N	probably damaging	Het
Coa7	A	G	4: 108,195,479 (GRCm39)	D136G	probably damaging	Het
Col5a2	C	A	1: 45,415,306 (GRCm39)	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,993 (GRCm39)		probably benign	Het
Cyp4f17	T	G	17: 32,739,600 (GRCm39)	M174R	probably damaging	Het
Dnah10	A	T	5: 124,831,354 (GRCm39)	D794V	probably benign	Het
Eapp	A	G	12: 54,738,878 (GRCm39)	S87P	probably benign	Het
Efnb3	A	G	11: 69,448,031 (GRCm39)	I137T	probably damaging	Het
Eif4e	T	A	3: 138,259,488 (GRCm39)		probably benign	Het
Fam83b	T	A	9: 76,400,324 (GRCm39)	I260L	probably benign	Het
Fras1	A	G	5: 96,929,619 (GRCm39)	T4008A	probably damaging	Het
Fut8	A	T	12: 77,412,003 (GRCm39)	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,734,183 (GRCm39)	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685 (GRCm38)	*206C	probably null	Het
Gmip	G	A	8: 70,264,261 (GRCm39)	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,417,983 (GRCm39)		probably null	Het
Haao	C	T	17: 84,154,078 (GRCm39)	C23Y	probably damaging	Het
Hip1	A	T	5: 135,453,728 (GRCm39)	V400E	probably damaging	Het
Keg1	A	G	19: 12,696,461 (GRCm39)	N215S	probably damaging	Het
Lss	T	G	10: 76,376,785 (GRCm39)	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327 (GRCm39)	E77D	probably benign	Het
Myo3a	A	G	2: 22,468,210 (GRCm39)	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,403,677 (GRCm39)	E863G	possibly damaging	Het
Ncl	T	C	1: 86,280,319 (GRCm39)	Y496C	probably damaging	Het
Nefm	A	T	14: 68,358,739 (GRCm39)	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,834,096 (GRCm39)	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,168,643 (GRCm39)	E913*	probably null	Het
Nup205	T	C	6: 35,209,349 (GRCm39)	L1552P	probably damaging	Het
Or2t46	A	G	11: 58,472,539 (GRCm39)	N290D	probably damaging	Het
Or4c112	G	T	2: 88,854,199 (GRCm39)	Y49*	probably null	Het
Or52h7	T	A	7: 104,213,677 (GRCm39)	V83D	probably damaging	Het
Or7c70	C	T	10: 78,683,201 (GRCm39)	E183K	probably benign	Het
Osm	A	C	11: 4,188,426 (GRCm39)	I18L	unknown	Het
Otoa	T	A	7: 120,710,217 (GRCm39)	S254R	probably damaging	Het
Parp1	T	C	1: 180,427,155 (GRCm39)		probably benign	Het
Pcdh17	A	G	14: 84,770,551 (GRCm39)	I1010V	probably benign	Het
Peli2	A	T	14: 48,490,032 (GRCm39)		probably null	Het
Pkd1l3	T	G	8: 110,388,738 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,151,524 (GRCm39)		probably benign	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Potegl	A	T	2: 23,102,817 (GRCm39)	Y185F	possibly damaging	Het
Ptpn13	A	T	5: 103,664,214 (GRCm39)	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,350 (GRCm39)		probably null	Het
Rttn	T	G	18: 89,061,152 (GRCm39)	S1107A	probably benign	Het
Scn5a	G	T	9: 119,366,702 (GRCm39)	N328K	probably benign	Het
Sned1	G	A	1: 93,217,089 (GRCm39)	A1325T	probably benign	Het
St8sia4	T	A	1: 95,588,595 (GRCm39)	E80V	probably benign	Het
Stard7	T	C	2: 127,134,176 (GRCm39)		probably benign	Het
Suco	G	T	1: 161,647,990 (GRCm39)	P1099T	probably damaging	Het
Syn2	G	T	6: 115,251,221 (GRCm39)	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,780,041 (GRCm39)	I60L	probably benign	Het
Tomm70a	T	C	16: 56,965,150 (GRCm39)	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,564,102 (GRCm39)	D87V	probably benign	Het
Trgc4	A	G	13: 19,536,416 (GRCm39)	Y158C	unknown	Het
Trpm6	A	T	19: 18,815,446 (GRCm39)	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,273,499 (GRCm39)	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,525,220 (GRCm39)	T293S	probably 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
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
R9729:Arfgap3	UTSW	15	83,192,366 (GRCm39)	missense	probably damaging	1.00
Z1177:Arfgap3	UTSW	15	83,216,889 (GRCm39)	nonsense	probably null

Posted On

2016-08-02