Mutagenetix > Incidental Mutation

Incidental Mutation 'R8907:Agap3'

678430

Institutional Source

Beutler Lab

Gene Symbol

Agap3

Ensembl Gene

ENSMUSG00000023353

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

Synonyms

Centg3, MRIP-1, Crag

MMRRC Submission

068763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8907 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

24657175-24707045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24679629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 109 (I109T)

Ref Sequence

ENSEMBL: ENSMUSP00000142529 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024123

SMART Domains

Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353

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: ENSMUST00000199856
AA Change: I109T

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

SMART Domains

Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: I109T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,398 (GRCm39)	I73V	probably damaging	Het
Ahnak	G	A	19: 8,986,452 (GRCm39)	V2579M	probably benign	Het
Akap13	T	C	7: 75,260,444 (GRCm39)	S220P	probably benign	Het
Akap13	C	G	7: 75,260,456 (GRCm39)	P224A	probably damaging	Het
Alpk1	G	A	3: 127,474,642 (GRCm39)	Q454*	probably null	Het
Asrgl1	C	T	19: 9,090,506 (GRCm39)	G280D	probably damaging	Het
Atp6v0d1	TTCTTACCTC	T	8: 106,251,782 (GRCm39)		probably benign	Het
Atxn2l	T	A	7: 126,099,425 (GRCm39)	D204V	probably damaging	Het
B430306N03Rik	T	C	17: 48,628,100 (GRCm39)	Y177H	probably damaging	Het
Bcl2l14	G	A	6: 134,400,585 (GRCm39)	C2Y	probably damaging	Het
Bltp1	T	A	3: 37,002,295 (GRCm39)	Y1413*	probably null	Het
Bphl	A	T	13: 34,230,930 (GRCm39)	M125L	possibly damaging	Het
Cdh10	A	T	15: 19,013,521 (GRCm39)	N707I	probably damaging	Het
Ceacam1	T	A	7: 25,171,444 (GRCm39)	D340V	possibly damaging	Het
Cklf	G	A	8: 104,977,671 (GRCm39)	V8I	probably benign	Het
Cln5	A	G	14: 103,310,711 (GRCm39)	N126S	probably damaging	Het
Col5a2	A	T	1: 45,456,106 (GRCm39)	M327K	probably benign	Het
Col6a6	A	T	9: 105,644,528 (GRCm39)	F1253L	probably damaging	Het
Crb2	G	A	2: 37,685,395 (GRCm39)	S1169N	probably benign	Het
Cspg4	A	T	9: 56,790,967 (GRCm39)	D72V	probably damaging	Het
Ctnnd2	C	T	15: 30,905,873 (GRCm39)	P840L	probably damaging	Het
Eea1	T	C	10: 95,826,274 (GRCm39)	Y105H	probably damaging	Het
Epha4	A	C	1: 77,483,422 (GRCm39)	S196A	probably damaging	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Fcamr	G	T	1: 130,740,328 (GRCm39)	G249V	probably damaging	Het
Fdxacb1	C	T	9: 50,681,451 (GRCm39)	T124I	probably damaging	Het
Fmn1	T	G	2: 113,355,914 (GRCm39)	L883R	unknown	Het
Frmd4b	T	C	6: 97,273,046 (GRCm39)	N782S	probably damaging	Het
Frmpd2	T	G	14: 33,248,380 (GRCm39)	C621W	probably damaging	Het
Fsip2	T	A	2: 82,816,984 (GRCm39)	V4239D	probably benign	Het
Gcnt4	A	G	13: 97,083,844 (GRCm39)	Y380C	probably damaging	Het
Gm7298	T	C	6: 121,741,817 (GRCm39)	V413A	probably benign	Het
Gstp3	C	T	19: 4,108,145 (GRCm39)	V93M	possibly damaging	Het
Helz2	A	T	2: 180,874,920 (GRCm39)	M1858K	possibly damaging	Het
Ighv1-7	T	A	12: 114,502,353 (GRCm39)	K38M	probably damaging	Het
Klri1	T	C	6: 129,680,283 (GRCm39)	K124R	probably null	Het
Kmt2c	A	T	5: 25,514,609 (GRCm39)	F3078Y	probably damaging	Het
Map4k4	C	T	1: 40,058,770 (GRCm39)	P988L	probably damaging	Het
Mmrn1	G	A	6: 60,953,077 (GRCm39)	E453K	probably damaging	Het
Muc5b	T	A	7: 141,417,875 (GRCm39)	V3607E	probably benign	Het
Myo15a	T	A	11: 60,417,434 (GRCm39)	I3461N		Het
Ngef	G	A	1: 87,405,376 (GRCm39)	S678F	probably damaging	Het
Npc1l1	A	T	11: 6,178,157 (GRCm39)	S418T	probably benign	Het
Nprl2	A	G	9: 107,421,995 (GRCm39)	D257G	probably damaging	Het
Or4c113	A	T	2: 88,885,542 (GRCm39)	V76D	probably damaging	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Pcf11	T	C	7: 92,302,451 (GRCm39)	T1220A	probably benign	Het
Pkhd1	T	C	1: 20,187,785 (GRCm39)	I3508V	possibly damaging	Het
Ppargc1a	A	T	5: 51,647,570 (GRCm39)	S258T	probably damaging	Het
Prom1	A	G	5: 44,159,135 (GRCm39)	Y830H	probably damaging	Het
Ptprm	T	A	17: 67,051,732 (GRCm39)	H1001L	probably damaging	Het
Rab8b	A	G	9: 66,826,807 (GRCm39)	F37L	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Sdk1	A	T	5: 142,070,278 (GRCm39)	I1148F	probably damaging	Het
Sec62	A	G	3: 30,864,621 (GRCm39)	K162E	unknown	Het
Serpinb13	A	T	1: 106,928,519 (GRCm39)	I380F	probably damaging	Het
Sptb	T	C	12: 76,634,186 (GRCm39)	D2175G	probably benign	Het
St3gal6	T	C	16: 58,314,095 (GRCm39)	I13V	probably benign	Het
Tfpi2	A	T	6: 3,967,996 (GRCm39)	L48H	probably damaging	Het
Tmem121b	T	A	6: 120,469,707 (GRCm39)	I337F	probably damaging	Het
Tpbgl	T	C	7: 99,275,182 (GRCm39)	D225G	probably benign	Het
Trpa1	A	G	1: 14,959,664 (GRCm39)	V674A	probably benign	Het
Trpa1	A	G	1: 14,963,563 (GRCm39)	L553P	probably damaging	Het
Tyrp1	T	C	4: 80,755,798 (GRCm39)	V189A	probably damaging	Het
Vmn1r19	G	T	6: 57,381,991 (GRCm39)	M181I	probably benign	Het
Vmn2r10	T	C	5: 109,149,791 (GRCm39)	T418A	probably benign	Het
Zfp617	A	G	8: 72,686,927 (GRCm39)	Y419C	probably damaging	Het

Other mutations in Agap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Agap3	APN	5	24,703,107 (GRCm39)	missense	probably damaging	0.99
IGL00900:Agap3	APN	5	24,681,366 (GRCm39)	splice site	probably benign
IGL00966:Agap3	APN	5	24,706,000 (GRCm39)	splice site	probably benign
IGL02207:Agap3	APN	5	24,704,934 (GRCm39)	missense	probably benign
IGL02431:Agap3	APN	5	24,706,010 (GRCm39)	missense	probably damaging	1.00
IGL02601:Agap3	APN	5	24,688,369 (GRCm39)	missense	possibly damaging	0.67
IGL03090:Agap3	APN	5	24,706,204 (GRCm39)	missense	possibly damaging	0.91
IGL03131:Agap3	APN	5	24,682,130 (GRCm39)	missense	probably benign	0.16
IGL03247:Agap3	APN	5	24,692,820 (GRCm39)	missense	probably damaging	1.00
R0165:Agap3	UTSW	5	24,684,743 (GRCm39)	missense	probably damaging	0.98
R0344:Agap3	UTSW	5	24,656,200 (GRCm39)	unclassified	probably benign
R0496:Agap3	UTSW	5	24,706,241 (GRCm39)	missense	probably damaging	1.00
R0542:Agap3	UTSW	5	24,705,184 (GRCm39)	missense	possibly damaging	0.95
R1427:Agap3	UTSW	5	24,681,691 (GRCm39)	missense	probably benign	0.03
R1840:Agap3	UTSW	5	24,705,229 (GRCm39)	missense	probably damaging	1.00
R1903:Agap3	UTSW	5	24,698,011 (GRCm39)	missense	probably damaging	1.00
R2101:Agap3	UTSW	5	24,692,797 (GRCm39)	missense	probably damaging	1.00
R4601:Agap3	UTSW	5	24,681,406 (GRCm39)	missense	probably damaging	1.00
R4745:Agap3	UTSW	5	24,656,123 (GRCm39)	splice site	probably null
R4807:Agap3	UTSW	5	24,682,114 (GRCm39)	missense	probably damaging	1.00
R4808:Agap3	UTSW	5	24,706,243 (GRCm39)	missense	probably benign
R4916:Agap3	UTSW	5	24,683,011 (GRCm39)	missense	probably damaging	0.98
R5056:Agap3	UTSW	5	24,682,860 (GRCm39)	missense	probably damaging	1.00
R5094:Agap3	UTSW	5	24,656,319 (GRCm39)	unclassified	probably benign
R5646:Agap3	UTSW	5	24,688,395 (GRCm39)	missense	probably benign	0.01
R5937:Agap3	UTSW	5	24,682,815 (GRCm39)	missense	probably damaging	0.99
R6365:Agap3	UTSW	5	24,679,983 (GRCm39)	missense	probably benign	0.43
R6798:Agap3	UTSW	5	24,703,280 (GRCm39)	splice site	probably null
R6802:Agap3	UTSW	5	24,692,791 (GRCm39)	missense	possibly damaging	0.87
R6863:Agap3	UTSW	5	24,657,462 (GRCm39)	nonsense	probably null
R6863:Agap3	UTSW	5	24,657,461 (GRCm39)	missense	possibly damaging	0.63
R7039:Agap3	UTSW	5	24,688,399 (GRCm39)	missense	probably benign	0.01
R7111:Agap3	UTSW	5	24,706,396 (GRCm39)	missense	probably damaging	1.00
R7313:Agap3	UTSW	5	24,657,382 (GRCm39)	missense	probably benign	0.25
R7791:Agap3	UTSW	5	24,681,411 (GRCm39)	missense	probably damaging	1.00
R8124:Agap3	UTSW	5	24,683,128 (GRCm39)	missense	probably benign	0.02
R8293:Agap3	UTSW	5	24,692,883 (GRCm39)	missense	probably damaging	1.00
R9127:Agap3	UTSW	5	24,681,439 (GRCm39)	splice site	probably benign
R9694:Agap3	UTSW	5	24,682,139 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGCAGGCTCAAGTGGAG -3'
(R):5'- GCTACTCCATAGGGACGCTC -3'

Sequencing Primer
(F):5'- TGGACCTGCACAGCACCTC -3'
(R):5'- ACCTCCAGGAACGTCAT -3'

Posted On

2021-08-02