Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Agap1'

38096

Institutional Source

Beutler Lab

Gene Symbol

Agap1

Ensembl Gene

ENSMUSG00000055013

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Synonyms

Ggap1, Centg2

MMRRC Submission

038605-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89454806-89897617 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 89843250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096]

AlphaFold

Q8BXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000027521

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013

Domain	Start	End	E-Value	Type
Pfam:Ras	73	231	1.1e-18	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	590	1.36e-15	SMART
ArfGap	609	729	4.58e-51	SMART
ANK	768	797	1.83e-3	SMART
ANK	801	832	1.33e2	SMART
low complexity region	840	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074945

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013

Domain	Start	End	E-Value	Type
Pfam:Miro	73	181	5e-24	PFAM
Pfam:Ras	73	231	3e-19	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	537	7.93e-17	SMART
ArfGap	556	676	4.58e-51	SMART
ANK	715	744	1.83e-3	SMART
ANK	748	779	1.33e2	SMART
low complexity region	787	799	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190096

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013

Domain	Start	End	E-Value	Type
Pfam:Miro	73	181	5e-24	PFAM
Pfam:Ras	73	231	3e-19	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	537	7.93e-17	SMART
ArfGap	556	676	4.58e-51	SMART
ANK	715	744	1.83e-3	SMART
ANK	748	779	1.33e2	SMART
low complexity region	787	799	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,426,360	H169L	probably benign	Het
9130230L23Rik	T	C	5: 65,990,356	D28G	unknown	Het
Abca12	T	A	1: 71,259,776		probably benign	Het
Acsl5	T	C	19: 55,293,711	V573A	probably damaging	Het
Arid2	A	G	15: 96,356,925		probably benign	Het
B430305J03Rik	T	A	3: 61,364,135		probably benign	Het
Brsk2	T	C	7: 141,998,553	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,613,209	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,563,153		probably benign	Het
Cers3	T	C	7: 66,764,330	V88A	probably benign	Het
Cnnm1	A	T	19: 43,468,364	H614L	probably damaging	Het
Col1a1	T	A	11: 94,941,369		probably benign	Het
Cyp1b1	T	A	17: 79,713,587	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,563,718	M1T	probably null	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dclk2	A	T	3: 86,813,747		probably null	Het
Ddx58	A	G	4: 40,235,257	Y78H	probably benign	Het
Dnah17	A	G	11: 118,082,078	S2010P	probably damaging	Het
Dram2	T	C	3: 106,573,618	L246P	probably damaging	Het
Dus2	A	T	8: 106,048,677	T279S	probably benign	Het
Epn2	T	C	11: 61,532,696		probably null	Het
Esco2	C	A	14: 65,831,706	V52F	possibly damaging	Het
Fbp1	T	A	13: 62,865,068	T104S	probably benign	Het
Foxj2	A	T	6: 122,833,808	Q249L	possibly damaging	Het
Galnt7	T	C	8: 57,583,989	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,634,827	Y35H	probably benign	Het
Gipc2	A	G	3: 152,165,668	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,657,075		probably benign	Het
Hmcn2	A	G	2: 31,400,129	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,153,471	K471R	probably damaging	Het
Ireb2	G	A	9: 54,896,498	R491H	probably benign	Het
Isg20	A	G	7: 78,916,725	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,746,244	R100H	probably benign	Het
Lrp1b	T	C	2: 40,750,914	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,878,020	F287V	probably benign	Het
Mmrn1	A	C	6: 60,977,115	K793N	probably benign	Het
Muc16	A	G	9: 18,510,534	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,192,598		probably benign	Het
Nalcn	T	A	14: 123,290,960		probably benign	Het
Nfia	T	C	4: 98,063,136	V400A	probably damaging	Het
Nxph4	T	A	10: 127,526,258	T255S	possibly damaging	Het
Olfm5	G	A	7: 104,154,179	T359I	probably damaging	Het
Olfr141	A	G	2: 86,806,651	M116T	probably damaging	Het
Olfr393	T	C	11: 73,848,041	Y28C	probably benign	Het
Olfr907	A	G	9: 38,498,911	M81V	possibly damaging	Het
Olfr935	G	T	9: 38,995,198	P79Q	probably damaging	Het
Pak7	T	C	2: 136,097,579	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,475,895	F727L	probably benign	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,392,934	I1553N	probably benign	Het
Pink1	T	C	4: 138,317,918	T282A	probably damaging	Het
Prdm2	A	G	4: 143,111,670	F1706S	probably benign	Het
Pycr1	G	A	11: 120,641,526		probably benign	Het
Skint9	A	G	4: 112,414,001	S71P	probably damaging	Het
Smad1	A	G	8: 79,371,770		probably benign	Het
Snapc5	A	T	9: 64,180,507	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,362,650	L56P	probably damaging	Het
Stab2	A	C	10: 86,872,610	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,717,412		probably benign	Het
Tmem57	T	C	4: 134,828,116	K349E	probably benign	Het
Tph2	A	G	10: 115,080,120		probably benign	Het
Triml1	A	G	8: 43,141,040	V118A	probably benign	Het
Ttbk2	T	A	2: 120,750,242	T538S	probably benign	Het
Ttn	A	G	2: 76,715,272	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,648,192	Y158F	probably benign	Het
Usp7	A	T	16: 8,716,632		probably benign	Het
Vdr	A	G	15: 97,869,351	S179P	probably benign	Het
Vps13d	A	C	4: 145,065,827	S663A	probably benign	Het
Wdr62	T	A	7: 30,241,462	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,577,130	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,453,897	C439R	probably damaging	Het
Zfp507	T	A	7: 35,791,746	H704L	probably damaging	Het
Zzef1	G	A	11: 72,895,242	R2080K	probably damaging	Het

Other mutations in Agap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Agap1	APN	1	89663796	splice site	probably benign
IGL00310:Agap1	APN	1	89887670	missense	probably damaging	1.00
IGL01104:Agap1	APN	1	89726075	splice site	probably benign
IGL02227:Agap1	APN	1	89663775	missense	probably damaging	0.99
IGL02959:Agap1	APN	1	89843191	missense	possibly damaging	0.94
IGL03303:Agap1	APN	1	89665152	missense	probably damaging	1.00
K3955:Agap1	UTSW	1	89887604	missense	probably damaging	1.00
R0030:Agap1	UTSW	1	89888744	nonsense	probably null
R0234:Agap1	UTSW	1	89671212	missense	probably damaging	1.00
R0234:Agap1	UTSW	1	89671212	missense	probably damaging	1.00
R1104:Agap1	UTSW	1	89789240	missense	probably damaging	0.99
R1160:Agap1	UTSW	1	89843154	missense	probably damaging	0.98
R1439:Agap1	UTSW	1	89843186	missense	probably damaging	1.00
R1454:Agap1	UTSW	1	89837806	splice site	probably null
R1644:Agap1	UTSW	1	89663730	missense	probably damaging	0.97
R1984:Agap1	UTSW	1	89766323	missense	probably benign
R2141:Agap1	UTSW	1	89837755	missense	probably damaging	0.99
R3966:Agap1	UTSW	1	89834461	missense	probably damaging	0.99
R4195:Agap1	UTSW	1	89834539	missense	probably damaging	0.99
R4669:Agap1	UTSW	1	89837806	splice site	probably null
R4951:Agap1	UTSW	1	89609503	missense	probably damaging	1.00
R5525:Agap1	UTSW	1	89743773	missense	possibly damaging	0.86
R5843:Agap1	UTSW	1	89609550	missense	probably damaging	0.97
R5930:Agap1	UTSW	1	89843096	missense	probably damaging	1.00
R6030:Agap1	UTSW	1	89630434	missense	probably damaging	1.00
R6030:Agap1	UTSW	1	89630434	missense	probably damaging	1.00
R6879:Agap1	UTSW	1	89766455	missense	probably benign	0.25
R7027:Agap1	UTSW	1	89888722	missense	probably benign	0.00
R7207:Agap1	UTSW	1	89843099	missense	possibly damaging	0.91
R7268:Agap1	UTSW	1	89766348	missense	probably benign	0.02
R7289:Agap1	UTSW	1	89455431	start codon destroyed	probably null	0.01
R7689:Agap1	UTSW	1	89834466	missense	probably damaging	1.00
R7690:Agap1	UTSW	1	89843071	missense	probably benign	0.43
R7801:Agap1	UTSW	1	89630485	missense	probably damaging	1.00
R7849:Agap1	UTSW	1	89630419	missense	probably damaging	0.99
R8364:Agap1	UTSW	1	89887674	missense	probably damaging	1.00
R8491:Agap1	UTSW	1	89609572	missense	probably damaging	1.00
R9016:Agap1	UTSW	1	89766466	critical splice donor site	probably null
R9040:Agap1	UTSW	1	89743744	missense	probably damaging	0.98
R9254:Agap1	UTSW	1	89726019	missense	probably damaging	1.00
R9477:Agap1	UTSW	1	89837763	missense	probably benign
RF015:Agap1	UTSW	1	89634263	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCAGCAATCCACCATGTCTC -3'
(R):5'- AGGCGTTTGAATCATCTAGTCTGCTC -3'

Sequencing Primer
(F):5'- GAGCCCTCATGTGTATCGAG -3'
(R):5'- GAATCATCTAGTCTGCTCTGCAC -3'

Posted On

2013-05-23