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

045436-MU

Accession Numbers

Essential gene?

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

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180609018-180624319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180612869 bp (GRCm39)

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
Abraxas2	T	C	7: 132,476,578 (GRCm39)	F106S	probably damaging	Het
Acsf3	A	G	8: 123,512,685 (GRCm39)	T369A	probably benign	Het
Adgrf5	G	A	17: 43,739,335 (GRCm39)		probably null	Het
Aff1	T	A	5: 103,994,958 (GRCm39)	I1052K	probably benign	Het
Akap8	T	C	17: 32,535,549 (GRCm39)	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,111,653 (GRCm39)	M166L	probably benign	Het
Allc	T	A	12: 28,613,408 (GRCm39)	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,996,084 (GRCm39)	L297F	probably damaging	Het
Bckdhb	T	A	9: 83,892,379 (GRCm39)	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,452,355 (GRCm39)		probably null	Het
Cd44	G	T	2: 102,664,607 (GRCm39)	N531K	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cr2	A	G	1: 194,837,594 (GRCm39)	V792A	probably benign	Het
Cstf3	T	C	2: 104,439,301 (GRCm39)	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,536,208 (GRCm39)	E151G	probably benign	Het
Dbr1	T	C	9: 99,464,602 (GRCm39)	F127S		Het
Ddit4	A	T	10: 59,787,317 (GRCm39)	D6E	probably damaging	Het
Disc1	G	C	8: 125,891,841 (GRCm39)	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,965 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,971,404 (GRCm39)	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,889,944 (GRCm39)	R608G	probably damaging	Het
Efcab5	G	C	11: 77,028,387 (GRCm39)	P315A	probably benign	Het
Eif4a2	A	G	16: 22,932,012 (GRCm39)	Y392C	possibly damaging	Het
F5	G	T	1: 164,020,277 (GRCm39)	K917N	probably benign	Het
Fig4	T	C	10: 41,127,752 (GRCm39)	M571V	probably benign	Het
Flot2	T	A	11: 77,948,802 (GRCm39)	I259N	probably damaging	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gpr152	T	C	19: 4,192,963 (GRCm39)	V168A	possibly damaging	Het
H1f0	G	A	15: 78,913,103 (GRCm39)	G61D	probably damaging	Het
Ihh	T	A	1: 74,987,492 (GRCm39)	K183M	probably damaging	Het
Itga2	A	G	13: 114,973,738 (GRCm39)	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,196,827 (GRCm39)	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,779,310 (GRCm39)	L120R	probably damaging	Het
Krt14	C	A	11: 100,095,926 (GRCm39)	E211*	probably null	Het
Lars2	T	C	9: 123,256,545 (GRCm39)	L350P	probably damaging	Het
Lrba	T	C	3: 86,259,209 (GRCm39)	I1408T	probably damaging	Het
Lrrc27	A	G	7: 138,806,022 (GRCm39)	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,285,626 (GRCm39)	R617L	probably benign	Het
M1ap	A	G	6: 82,958,930 (GRCm39)	D187G	probably benign	Het
Marchf1	A	T	8: 66,921,051 (GRCm39)	K243*	probably null	Het
Med16	C	T	10: 79,739,031 (GRCm39)	V252M	probably damaging	Het
Micu3	T	C	8: 40,801,999 (GRCm39)	S189P	probably benign	Het
Mier2	C	A	10: 79,376,132 (GRCm39)	M264I	unknown	Het
Mindy4	A	T	6: 55,278,010 (GRCm39)	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,953,320 (GRCm39)	Q534*	probably null	Het
Mroh9	C	T	1: 162,903,858 (GRCm39)		probably null	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mta3	T	A	17: 84,015,870 (GRCm39)	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,491,476 (GRCm39)	H147L	probably damaging	Het
Nfam1	T	C	15: 82,894,640 (GRCm39)	K155R	probably benign	Het
Nlrp6	A	T	7: 140,501,191 (GRCm39)		probably benign	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or5d37	A	T	2: 87,923,542 (GRCm39)	F246Y	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Or6d13	A	G	6: 116,517,495 (GRCm39)	E27G	probably benign	Het
Or9g4	A	G	2: 85,505,189 (GRCm39)	F102S		Het
P4ha1	A	G	10: 59,186,240 (GRCm39)	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,288,723 (GRCm39)	D636E	probably benign	Het
Polr2a	A	G	11: 69,631,886 (GRCm39)	L1060P	possibly damaging	Het
Prr35	A	T	17: 26,165,685 (GRCm39)	V534D	probably damaging	Het
Ptgdr2	C	A	19: 10,918,319 (GRCm39)	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,925,853 (GRCm39)	R121S	probably benign	Het
Rasa2	T	C	9: 96,426,408 (GRCm39)	S813G	probably benign	Het
Rassf5	T	C	1: 131,106,273 (GRCm39)	K411E	possibly damaging	Het
Reep4	T	C	14: 70,783,987 (GRCm39)	Y35H	probably damaging	Het
Ror1	A	T	4: 100,283,140 (GRCm39)	M402L	probably benign	Het
Slc32a1	A	G	2: 158,456,326 (GRCm39)	E327G	probably damaging	Het
Spen	C	T	4: 141,206,696 (GRCm39)	E644K	unknown	Het
Tars3	C	G	7: 65,308,672 (GRCm39)	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,184,934 (GRCm39)	I92T	probably damaging	Het
Tifab	A	G	13: 56,324,120 (GRCm39)	S108P	probably damaging	Het
Traf1	T	C	2: 34,838,245 (GRCm39)	N198D	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Trim54	T	A	5: 31,294,505 (GRCm39)	D344E	probably benign	Het
Ttc28	A	T	5: 111,373,903 (GRCm39)	H1113L	probably damaging	Het
Vcam1	T	A	3: 115,908,211 (GRCm39)	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,104,219 (GRCm39)	T281S	probably benign	Het
Whrn	C	T	4: 63,350,196 (GRCm39)	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,777,151 (GRCm39)	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839 (GRCm39)	N2073K	probably benign	Het
Zgpat	T	A	2: 181,022,228 (GRCm39)	V163D		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
R4424: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
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'- CTCATTGAGAAGAGCCTCCTTG -3'
(R):5'- TCCTTAGCACAACCTGAGCG -3'

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

Posted On

2019-09-13