Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Arfgap1'

570481

Institutional Source

Beutler Lab

Gene Symbol

Arfgap1

Ensembl Gene

ENSMUSG00000027575

Gene Name

ADP-ribosylation factor GTPase activating protein 1

Synonyms

ARF1 GAP

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180967225-180982526 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180971076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 8 (K8E)

Ref Sequence

ENSEMBL: ENSMUSP00000104490 (fasta)

Gene Model

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

AlphaFold

Q9EPJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029092
AA Change: K8E

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029092
Gene: ENSMUSG00000027575
AA Change: K8E

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

probably benign
Transcript: ENSMUST00000108859
AA Change: K8E

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104487
Gene: ENSMUSG00000027575
AA Change: K8E

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: K8E

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104488
Gene: ENSMUSG00000027575
AA Change: K8E

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

possibly damaging
Transcript: ENSMUST00000108861
AA Change: K8E

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104489
Gene: ENSMUSG00000027575
AA Change: K8E

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

possibly damaging
Transcript: ENSMUST00000108862
AA Change: K8E

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104490
Gene: ENSMUSG00000027575
AA Change: K8E

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: ENSMUST00000184394
AA Change: K8E

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138843
Gene: ENSMUSG00000027575
AA Change: K8E

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

probably benign
Transcript: ENSMUST00000185115
AA Change: K8E

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139222
Gene: ENSMUSG00000027575
AA Change: K8E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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, 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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Arfgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Arfgap1	APN	2	180972725	missense	probably benign	0.01
IGL01521:Arfgap1	APN	2	180971578	missense	probably damaging	1.00
IGL02118:Arfgap1	APN	2	180980444	missense	possibly damaging	0.89
R1858:Arfgap1	UTSW	2	180974088	missense	probably damaging	1.00
R2060:Arfgap1	UTSW	2	180972782	missense	probably benign
R2509:Arfgap1	UTSW	2	180974053	splice site	probably benign
R4423:Arfgap1	UTSW	2	180981076	missense	probably benign	0.00
R4424:Arfgap1	UTSW	2	180981076	missense	probably benign	0.00
R4425:Arfgap1	UTSW	2	180981076	missense	probably benign	0.00
R4569:Arfgap1	UTSW	2	180976373	splice site	probably benign
R5668:Arfgap1	UTSW	2	180974119	missense	possibly damaging	0.81
R5834:Arfgap1	UTSW	2	180981162	missense	probably benign	0.01
R5915:Arfgap1	UTSW	2	180978422	missense	possibly damaging	0.88
R6819:Arfgap1	UTSW	2	180971685	critical splice donor site	probably null
R7011:Arfgap1	UTSW	2	180972142	missense	probably damaging	1.00
R7017:Arfgap1	UTSW	2	180976304	splice site	probably null
R7069:Arfgap1	UTSW	2	180974120	missense	probably benign	0.01
R8104:Arfgap1	UTSW	2	180979229	critical splice donor site	probably null
R9110:Arfgap1	UTSW	2	180973537	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTCATTGAGAAGAGCCTCCTTG -3'
(R):5'- TCCTTAGCACAACCTGAGCG -3'

Sequencing Primer
(F):5'- AAGAGCCTCCTTGGTAAATGGCTC -3'
(R):5'- ACCTGAGCGATGCAACAG -3'

Posted On

2019-09-13