Mutagenetix > Incidental Mutation

Incidental Mutation 'R4424:Arfgap1'

327251

Institutional Source

Beutler Lab

Gene Symbol

Arfgap1

Ensembl Gene

ENSMUSG00000027575

Gene Name

ADP-ribosylation factor GTPase activating protein 1

Synonyms

ARF1 GAP

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180609018-180624319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180622869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 327 (D327E)

Ref Sequence

ENSEMBL: ENSMUSP00000139222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029092] [ENSMUST00000108859] [ENSMUST00000108860] [ENSMUST00000108861] [ENSMUST00000108862] [ENSMUST00000185115] [ENSMUST00000184394]

AlphaFold

Q9EPJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000029092
AA Change: D317E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
AA Change: D317E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	310	327	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC
low complexity region	359	392	N/A	INTRINSIC
low complexity region	394	401	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094214

SMART Domains

Protein: ENSMUSP00000091767
Gene: ENSMUSG00000070461

Domain	Start	End	E-Value	Type
low complexity region	107	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108859
AA Change: D295E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
AA Change: D295E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	288	305	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
low complexity region	337	370	N/A	INTRINSIC
low complexity region	372	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108860
AA Change: D295E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
AA Change: D295E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	288	305	N/A	INTRINSIC
low complexity region	312	325	N/A	INTRINSIC
low complexity region	337	370	N/A	INTRINSIC
low complexity region	372	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108861
AA Change: D297E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
AA Change: D297E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	290	307	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
low complexity region	339	372	N/A	INTRINSIC
low complexity region	374	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108862
AA Change: D297E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
AA Change: D297E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	290	307	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
low complexity region	339	372	N/A	INTRINSIC
low complexity region	374	381	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136590

Predicted Effect

probably benign
Transcript: ENSMUST00000185115
AA Change: D327E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
AA Change: D327E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	320	337	N/A	INTRINSIC
low complexity region	344	357	N/A	INTRINSIC
low complexity region	369	402	N/A	INTRINSIC
low complexity region	404	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184394
AA Change: D305E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
AA Change: D305E

Domain	Start	End	E-Value	Type
ArfGap	7	124	2.4e-54	SMART
low complexity region	149	160	N/A	INTRINSIC
PDB:2M0W\|A	198	220	1e-6	PDB
low complexity region	298	315	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
low complexity region	347	380	N/A	INTRINSIC
low complexity region	382	389	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150507

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

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, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Dll3	T	C	7: 27,995,716 (GRCm39)	N362D	probably damaging	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hfe	A	T	13: 23,890,866 (GRCm39)	V91E	probably benign	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myh2	A	T	11: 67,083,551 (GRCm39)	Q1478L	probably benign	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Naprt	G	T	15: 75,764,605 (GRCm39)		probably null	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	probably damaging	Het

Other mutations in Arfgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Arfgap1	APN	2	180,614,518 (GRCm39)	missense	probably benign	0.01
IGL01521:Arfgap1	APN	2	180,613,371 (GRCm39)	missense	probably damaging	1.00
IGL02118:Arfgap1	APN	2	180,622,237 (GRCm39)	missense	possibly damaging	0.89
R1858:Arfgap1	UTSW	2	180,615,881 (GRCm39)	missense	probably damaging	1.00
R2060:Arfgap1	UTSW	2	180,614,575 (GRCm39)	missense	probably benign
R2509:Arfgap1	UTSW	2	180,615,846 (GRCm39)	splice site	probably benign
R4423:Arfgap1	UTSW	2	180,622,869 (GRCm39)	missense	probably benign	0.00
R4425:Arfgap1	UTSW	2	180,622,869 (GRCm39)	missense	probably benign	0.00
R4569:Arfgap1	UTSW	2	180,618,166 (GRCm39)	splice site	probably benign
R5668:Arfgap1	UTSW	2	180,615,912 (GRCm39)	missense	possibly damaging	0.81
R5834:Arfgap1	UTSW	2	180,622,955 (GRCm39)	missense	probably benign	0.01
R5915:Arfgap1	UTSW	2	180,620,215 (GRCm39)	missense	possibly damaging	0.88
R6819:Arfgap1	UTSW	2	180,613,478 (GRCm39)	critical splice donor site	probably null
R7011:Arfgap1	UTSW	2	180,613,935 (GRCm39)	missense	probably damaging	1.00
R7017:Arfgap1	UTSW	2	180,618,097 (GRCm39)	splice site	probably null
R7069:Arfgap1	UTSW	2	180,615,913 (GRCm39)	missense	probably benign	0.01
R7350:Arfgap1	UTSW	2	180,612,869 (GRCm39)	missense	possibly damaging	0.51
R8104:Arfgap1	UTSW	2	180,621,022 (GRCm39)	critical splice donor site	probably null
R9110:Arfgap1	UTSW	2	180,615,330 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCATAGAGCTGTTACAGGCATTTG -3'
(R):5'- TGTTGGATGCGGAACCTGAG -3'

Sequencing Primer
(F):5'- CTACACCTTGGTCAAATGTGGGC -3'
(R):5'- GGAACCTGAGCCCCAAACG -3'

Posted On

2015-07-07