Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03131:Agap3'

410318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agap3

Ensembl Gene

ENSMUSG00000023353

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

Synonyms

Crag, Centg3, MRIP-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

24452177-24502047 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24477132 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 392 (T392A)

Ref Sequence

ENSEMBL: ENSMUSP00000142529 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024123
AA Change: T209A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: T209A

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

noncoding transcript
Transcript: ENSMUST00000199250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199647

Predicted Effect

probably benign
Transcript: ENSMUST00000199856
AA Change: T392A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353
AA Change: T392A

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: T209A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,602	R135S	unknown	Het
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Abca12	A	T	1: 71,346,702	F252L	probably benign	Het
Abcd3	A	T	3: 121,781,991		probably benign	Het
Acvr2b	C	A	9: 119,431,284	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,564	C1564R	probably damaging	Het
Ano1	A	G	7: 144,603,585	F767L	possibly damaging	Het
Atg10	C	A	13: 90,937,293	R179I	probably null	Het
Bsph1	A	T	7: 13,473,087	K129N	probably damaging	Het
Calml4	A	G	9: 62,875,483	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,143,427	K153M	probably damaging	Het
Col4a2	G	A	8: 11,425,979	V672I	probably benign	Het
Crnkl1	T	C	2: 145,932,258	K95R	probably benign	Het
Crtap	T	C	9: 114,380,004	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,088,217	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,451,688	I369R	probably benign	Het
Dmc1	T	A	15: 79,568,691	I246L	probably benign	Het
Dock1	G	T	7: 134,874,183	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,870,183	T112M	probably damaging	Het
F5	A	T	1: 164,161,819	I97F	possibly damaging	Het
Fam208a	C	T	14: 27,461,179	Q532*	probably null	Het
Fasn	C	T	11: 120,810,724	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,281,511	V414A	probably benign	Het
Gpd2	T	C	2: 57,338,843		probably benign	Het
Gria4	T	G	9: 4,432,876	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,157,620	F885I	probably damaging	Het
Ifi209	C	T	1: 173,641,234	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,315,361	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,307,703	A120V	probably benign	Het
Mef2c	T	C	13: 83,662,375	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,307,692	L171I	probably benign	Het
Myf6	T	A	10: 107,494,271	Q145L	probably damaging	Het
Myh3	G	A	11: 67,091,109		probably benign	Het
Nbas	A	G	12: 13,279,416	I121V	probably benign	Het
Ncoa2	A	T	1: 13,177,174	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,161,915	D896N	possibly damaging	Het
Prss41	A	G	17: 23,842,524	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,517,559	T450S	probably benign	Het
Rab39	G	A	9: 53,686,561	R135C	probably damaging	Het
Radil	A	G	5: 142,495,342	V570A	probably damaging	Het
Sbno1	C	T	5: 124,388,605	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,882,878	K98*	probably null	Het
Serbp1	T	A	6: 67,281,823		probably null	Het
Serpinb3c	G	T	1: 107,271,727	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,231,234	D307A	probably benign	Het
Smarcad1	T	A	6: 65,074,953	S357T	probably damaging	Het
Spag17	G	A	3: 100,010,759	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,830,765	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,057,490	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,988,168	V227F	probably damaging	Het
Syt12	T	C	19: 4,456,854	T88A	probably benign	Het
Tlr12	A	G	4: 128,615,877	F860S	probably damaging	Het
Trdn	C	A	10: 33,398,414	S461*	probably null	Het
Trip4	G	A	9: 65,857,445	P413S	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	Het
Wnt9a	T	C	11: 59,331,029	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,573,294	K618*	probably null	Het
Zfp759	T	C	13: 67,138,664	L93P	probably damaging	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
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
R8124:Agap3	UTSW	5	24478130	missense	probably benign	0.02
R8293:Agap3	UTSW	5	24487885	missense	probably damaging	1.00

Posted On

2016-08-02