Mutagenetix > Incidental Mutations

Incidental Mutation 'R0234:Agap1'

59000

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

038475-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R0234 (G1)

Quality Score

100

Status

Not validated

Chromosome

Chromosomal Location

89454806-89897617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89671212 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 331 (K331E)

Ref Sequence

ENSEMBL: ENSMUSP00000027521 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027521
AA Change: K331E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: K331E

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

possibly damaging
Transcript: ENSMUST00000074945
AA Change: K197E

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: K197E

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

noncoding transcript
Transcript: ENSMUST00000186098

Predicted Effect

probably damaging
Transcript: ENSMUST00000190096
AA Change: K331E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: K331E

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,194,303		probably null	Het
A3galt2	A	G	4: 128,767,148	R197G	possibly damaging	Het
Acacb	A	T	5: 114,209,817	H983L	probably damaging	Het
Adal	T	A	2: 121,148,317	D139E	probably benign	Het
Adam6b	G	A	12: 113,490,610	R349H	probably damaging	Het
Alyref	T	C	11: 120,598,307	D11G	probably damaging	Het
B3gat1	A	G	9: 26,756,081	E203G	probably damaging	Het
Bsn	T	C	9: 108,116,396	E719G	possibly damaging	Het
Cap2	G	C	13: 46,638,022		probably null	Het
Ccni	A	G	5: 93,202,327	V31A	probably benign	Het
Cfap54	A	T	10: 92,899,160	L2343*	probably null	Het
Clns1a	T	A	7: 97,714,032	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
D430042O09Rik	T	C	7: 125,795,385	V211A	probably benign	Het
Dsp	A	G	13: 38,187,893	N940S	probably benign	Het
Erbb2	T	C	11: 98,436,439	V1181A	probably benign	Het
Exoc4	T	C	6: 33,862,087	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,463,464	V330A	possibly damaging	Het
Fam71a	T	C	1: 191,162,908	S513G	probably benign	Het
Fbf1	A	C	11: 116,155,034	F245V	probably damaging	Het
Fut10	T	A	8: 31,236,197	F327I	probably damaging	Het
Galnt1	C	T	18: 24,254,633	P144S	probably damaging	Het
Ghrhr	A	T	6: 55,379,186	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331	C1864S	probably damaging	Het
Hist1h1c	T	C	13: 23,739,123	I92T	probably benign	Het
Hps1	T	C	19: 42,762,553	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,310,069		probably benign	Het
Irgc1	C	A	7: 24,433,328	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,828,280	R590*	probably null	Het
Lmln	T	C	16: 33,066,324	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,365,617	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,312,873	D119E	probably benign	Het
Mrc1	A	G	2: 14,279,894	T565A	possibly damaging	Het
Muc6	A	C	7: 141,649,674	N473K	possibly damaging	Het
Myocd	A	T	11: 65,187,240	D448E	probably benign	Het
Neil2	T	A	14: 63,183,526	I239F	probably damaging	Het
Npnt	A	G	3: 132,914,414	F123S	possibly damaging	Het
Olfr1164	T	A	2: 88,093,022	R305*	probably null	Het
Olfr117	T	A	17: 37,660,106	I76F	probably damaging	Het
Olfr1309	T	C	2: 111,983,300	Y258C	probably damaging	Het
Olfr1501	C	T	19: 13,838,538	V212M	possibly damaging	Het
Olfr683	T	C	7: 105,144,074	D73G	probably damaging	Het
Olfr686	C	A	7: 105,203,614	C243F	probably damaging	Het
Olfr933	A	C	9: 38,976,251		probably null	Het
Pcnx3	T	C	19: 5,672,618	T941A	probably benign	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,575,079	Y864*	probably null	Het
Plcb4	T	C	2: 135,982,075	I844T	probably benign	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,384,501	F165I	probably damaging	Het
Prr5	T	A	15: 84,703,121	F357L	probably damaging	Het
Rasgrf1	A	T	9: 90,009,366	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,885,364	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,955,901	E602V	probably damaging	Het
Rimklb	T	C	6: 122,456,333	N343S	probably benign	Het
Rrp12	A	G	19: 41,871,760	L1008P	probably damaging	Het
Sec63	C	T	10: 42,798,798	R226C	probably damaging	Het
Sirpa	T	C	2: 129,615,468	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,250,800	V405L	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,183,261	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,926,791		probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc5a5	A	T	8: 70,889,633	M258K	probably damaging	Het
Spry4	A	G	18: 38,590,089	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,529,067	D460G	possibly damaging	Het
Syn3	T	A	10: 86,448,886	I117F	possibly damaging	Het
Tead4	C	T	6: 128,243,402	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,450,322	N546K	probably benign	Het
Tnn	T	A	1: 160,088,466	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,758,704	G62D	probably damaging	Het
Trf	T	C	9: 103,226,879		probably null	Het
Ubr5	T	C	15: 37,968,493	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Wipf3	T	G	6: 54,496,501	L458R	probably damaging	Het
Zfp236	T	C	18: 82,629,994	K966R	probably damaging	Het
Zfp27	T	A	7: 29,894,107	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,234,260	H496R	probably damaging	Het
Zfp467	A	T	6: 48,438,755	V321E	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
R0400:Agap1	UTSW	1	89843250	splice site	probably benign
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
R7932:Agap1	UTSW	1	89630419	missense	probably damaging	0.99
RF015:Agap1	UTSW	1	89634263	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTTCCTGGACGGTCCATTG -3'
(R):5'- TAGAGCTGCTGTCGCATTTCCC -3'

Sequencing Primer
(F):5'- TCTCTTTGGAATGATGAGTCAGAGC -3'
(R):5'- TCACAGGAACCCCTTCTAATTGATG -3'

Posted On

2013-07-11