Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Agap3'

631636

Institutional Source

Beutler Lab

Gene Symbol

Agap3

Ensembl Gene

ENSMUSG00000023353

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

Synonyms

Crag, Centg3, MRIP-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R8124 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

24452177-24502047 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24478130 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 320 (I320N)

Ref Sequence

ENSEMBL: ENSMUSP00000024123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856] [ENSMUST00000212381]

Predicted Effect

probably benign
Transcript: ENSMUST00000024123
AA Change: I320N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: I320N

Domain	Start	End	E-Value	Type
low complexity region	4	59	N/A	INTRINSIC
Pfam:Ras	128	286	1.2e-18	PFAM
low complexity region	328	345	N/A	INTRINSIC
PH	403	642	2.76e-16	SMART
ArfGap	661	781	9.17e-51	SMART
ANK	820	849	2.43e1	SMART
ANK	853	885	9.17e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197513

Predicted Effect

probably damaging
Transcript: ENSMUST00000199856
AA Change: I503N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: I503N

Domain	Start	End	E-Value	Type
low complexity region	40	50	N/A	INTRINSIC
low complexity region	66	108	N/A	INTRINSIC
low complexity region	242	255	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
small_GTPase	307	473	3.2e-11	SMART
low complexity region	511	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212381
AA Change: I320N

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,209,135	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Ice2	T	A	9: 69,400,495	N20K	probably damaging	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,799,278		probably null	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,589,890	T301A	probably benign	Het

Other mutations in Agap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Agap3	APN	5	24498109	missense	probably damaging	0.99
IGL00900:Agap3	APN	5	24476368	splice site	probably benign
IGL00966:Agap3	APN	5	24501002	splice site	probably benign
IGL02207:Agap3	APN	5	24499936	missense	probably benign
IGL02431:Agap3	APN	5	24501012	missense	probably damaging	1.00
IGL02601:Agap3	APN	5	24483371	missense	possibly damaging	0.67
IGL03090:Agap3	APN	5	24501206	missense	possibly damaging	0.91
IGL03131:Agap3	APN	5	24477132	missense	probably benign	0.16
IGL03247:Agap3	APN	5	24487822	missense	probably damaging	1.00
R0165:Agap3	UTSW	5	24479745	missense	probably damaging	0.98
R0344:Agap3	UTSW	5	24451202	unclassified	probably benign
R0496:Agap3	UTSW	5	24501243	missense	probably damaging	1.00
R0542:Agap3	UTSW	5	24500186	missense	possibly damaging	0.95
R1427:Agap3	UTSW	5	24476693	missense	probably benign	0.03
R1840:Agap3	UTSW	5	24500231	missense	probably damaging	1.00
R1903:Agap3	UTSW	5	24493013	missense	probably damaging	1.00
R2101:Agap3	UTSW	5	24487799	missense	probably damaging	1.00
R4601:Agap3	UTSW	5	24476408	missense	probably damaging	1.00
R4745:Agap3	UTSW	5	24451125	splice site	probably null
R4807:Agap3	UTSW	5	24477116	missense	probably damaging	1.00
R4808:Agap3	UTSW	5	24501245	missense	probably benign
R4916:Agap3	UTSW	5	24478013	missense	probably damaging	0.98
R5056:Agap3	UTSW	5	24477862	missense	probably damaging	1.00
R5094:Agap3	UTSW	5	24451321	unclassified	probably benign
R5646:Agap3	UTSW	5	24483397	missense	probably benign	0.01
R5937:Agap3	UTSW	5	24477817	missense	probably damaging	0.99
R6365:Agap3	UTSW	5	24474985	missense	probably benign	0.43
R6798:Agap3	UTSW	5	24498282	splice site	probably null
R6802:Agap3	UTSW	5	24487793	missense	possibly damaging	0.87
R6863:Agap3	UTSW	5	24452463	missense	possibly damaging	0.63
R6863:Agap3	UTSW	5	24452464	nonsense	probably null
R7039:Agap3	UTSW	5	24483401	missense	probably benign	0.01
R7111:Agap3	UTSW	5	24501398	missense	probably damaging	1.00
R7313:Agap3	UTSW	5	24452384	missense	probably benign	0.25
R7791:Agap3	UTSW	5	24476413	missense	probably damaging	1.00
R8293:Agap3	UTSW	5	24487885	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTTGGGGAGCTGCCAACC -3'
(R):5'- GAGTTCACAAGAGCACGTGC -3'

Sequencing Primer
(F):5'- GAGCTGCCAACCTGGATTTTGAAC -3'
(R):5'- TCGTGACGAGGGAAGACAGTG -3'

Posted On

2020-06-30