Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Agap1'

546010

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

Accession Numbers

Is this an essential gene?

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

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89454806-89897617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89888722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 748 (H748R)

Ref Sequence

ENSEMBL: ENSMUSP00000140599 (fasta)

Gene Model

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

AlphaFold

Q8BXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000027521
AA Change: H801R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: H801R

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
AA Change: H614R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: H614R

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
AA Change: H748R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: H748R

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	G	2: 85,485,527	Y440H	probably damaging	Het
Acoxl	A	T	2: 128,010,083	M102L	probably benign	Het
Adcy10	A	G	1: 165,518,246	E288G	probably damaging	Het
Ahsg	T	C	16: 22,892,257	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,612,526	T394A	probably benign	Het
Apc	T	G	18: 34,312,076	V657G	probably damaging	Het
Arl2	T	C	19: 6,141,089	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,801,450	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,769,990	S320T	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
BC107364	T	G	3: 96,440,741	R77S	unknown	Het
Brox	G	A	1: 183,284,186	P206L	possibly damaging	Het
Ccrl2	T	C	9: 111,055,885	K182E	probably benign	Het
Cd19	A	G	7: 126,410,499	V465A	possibly damaging	Het
Chrdl2	A	T	7: 100,022,033	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063	P376S	probably benign	Het
Cobll1	A	G	2: 65,089,503	S1194P	probably benign	Het
Col6a4	T	C	9: 106,067,014	Y1087C	probably damaging	Het
Col9a2	G	A	4: 121,044,019		probably null	Het
Cyp4v3	A	G	8: 45,310,252	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,631,506	Y529F	probably benign	Het
Eif3b	C	T	5: 140,425,288	R165W	probably damaging	Het
Erlec1	C	A	11: 30,950,790	C126F	probably damaging	Het
Fat2	T	C	11: 55,269,433	T3285A	probably benign	Het
Fat2	G	A	11: 55,281,851	R2679*	probably null	Het
Fbxo31	T	C	8: 121,578,485	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,412,063	Y243H	probably damaging	Het
Flcn	C	T	11: 59,795,806	V374M	probably damaging	Het
Fndc5	A	G	4: 129,139,523	M128V	probably benign	Het
Gal3st1	A	G	11: 3,999,002	D403G	probably damaging	Het
Garem1	T	C	18: 21,129,994	N588D	probably benign	Het
Gas1	T	C	13: 60,176,233	T196A	probably damaging	Het
Gcn1l1	T	C	5: 115,616,546		probably null	Het
Gprc5d	T	G	6: 135,116,648	Q87P	probably damaging	Het
Grm1	A	G	10: 10,719,595	L763P	probably damaging	Het
Hivep2	G	T	10: 14,149,577	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,149,578	D2379Y	probably damaging	Het
Itgad	A	G	7: 128,182,989	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,906,485	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,414,916	S128G	probably benign	Het
Map3k9	T	C	12: 81,730,624	T528A	probably benign	Het
Mmp11	G	A	10: 75,932,396		probably benign	Het
Mycbpap	T	A	11: 94,514,614	I30F	probably damaging	Het
Nfya	T	C	17: 48,389,312	T335A	probably benign	Het
Npat	T	A	9: 53,569,916	S1008T	possibly damaging	Het
Olfr1145	A	G	2: 87,810,716	T299A	possibly damaging	Het
Olfr121	G	A	17: 37,752,409	C185Y	probably damaging	Het
Olfr494	A	T	7: 108,368,350	M287L	probably damaging	Het
Olfr818	C	T	10: 129,945,172	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,223,698	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,111	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,721,362	D270G	probably damaging	Het
Pde2a	A	C	7: 101,511,597	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,113,974	D873G	probably benign	Het
Pno1	A	T	11: 17,208,880	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,354,736	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,181,413		probably benign	Het
Psma5	A	G	3: 108,265,168	I67V	probably benign	Het
Reep6	G	A	10: 80,333,965		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,591,414		probably benign	Het
Scyl2	C	G	10: 89,645,461		probably null	Het
Sdk1	T	A	5: 142,096,726		probably null	Het
Senp5	C	A	16: 31,989,295	K380N	probably benign	Het
Slc22a14	A	T	9: 119,231,215		probably null	Het
Slc26a5	T	A	5: 21,816,974	T485S	possibly damaging	Het
Slc44a5	T	C	3: 154,253,719	I349T	probably benign	Het
Smarca5	T	C	8: 80,736,726	E71G	probably benign	Het
Smok2a	A	T	17: 13,225,779	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,217,272	D388G	probably benign	Het
Tank	T	C	2: 61,653,422	V404A	probably benign	Het
Tek	A	G	4: 94,865,510	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,733,674	C16Y	probably benign	Het
Tmc1	A	G	19: 20,940,903		probably null	Het
Tnc	A	G	4: 63,984,589	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,685,132		probably null	Het
Tnrc6c	T	A	11: 117,733,618	S919T	probably damaging	Het
Trim17	C	A	11: 58,968,616	Q219K	probably benign	Het
Trim5	T	A	7: 104,265,668	H389L	probably benign	Het
Trio	T	A	15: 27,805,654	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,035,801	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,362,244	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,404,490	Y9*	probably null	Het
Vmn2r50	T	A	7: 10,047,612	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,313,286	A484E	probably benign	Het
Vps13a	T	C	19: 16,664,664	T2200A	probably benign	Het
Wdr36	T	A	18: 32,841,905	H103Q	probably benign	Het
Zfp534	G	A	4: 147,675,210	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,770,372	S897N	probably benign	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
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
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'- CTTTCCTAACAACAGGTTCAGAGC -3'
(R):5'- ATCCCAGGTGTAGTGTTGGC -3'

Sequencing Primer
(F):5'- CAGGTTCAGAGCCTGGTCTAAAC -3'
(R):5'- TTGGCTGAGCTCAGATGACAC -3'

Posted On

2019-05-13