Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:G3bp2'

412798

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

G3bp2

Ensembl Gene

ENSMUSG00000029405

Gene Name

GTPase activating protein (SH3 domain) binding protein 2

Synonyms

G3BP, E430034L04Rik, G3BP2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

92052146-92083719 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 92068508 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000201820] [ENSMUST00000202123] [ENSMUST00000202258]

Predicted Effect

probably benign
Transcript: ENSMUST00000113127

SMART Domains

Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	8.4e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	254	279	N/A	INTRINSIC
RRM	299	372	6.07e-14	SMART
low complexity region	376	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164378

SMART Domains

Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.5e-36	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167918

SMART Domains

Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	8.4e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	254	279	N/A	INTRINSIC
RRM	299	372	6.07e-14	SMART
low complexity region	376	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169094

SMART Domains

Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	1.1e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201820

SMART Domains

Protein: ENSMUSP00000144404
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	117	9.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201824

Predicted Effect

probably benign
Transcript: ENSMUST00000202123

SMART Domains

Protein: ENSMUSP00000143804
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202125

Predicted Effect

probably benign
Transcript: ENSMUST00000202258

SMART Domains

Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.5e-36	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202352

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,853,607	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,769		probably benign	Het
Ankrd42	T	A	7: 92,591,858	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766	F592I	probably damaging	Het
Arhgef28	A	G	13: 97,951,563		probably null	Het
Boc	A	G	16: 44,492,821	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,896,708	V96E	probably benign	Het
Cep162	C	T	9: 87,225,786	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,157,448	N372S	probably benign	Het
Dnah7a	G	A	1: 53,419,607	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,276,092	Q57R	probably benign	Het
Gm595	T	A	X: 48,872,948	Q296L	possibly damaging	Het
Hmcn1	G	A	1: 150,802,909	T487I	probably benign	Het
Kpna7	A	T	5: 144,997,037	I282N	probably damaging	Het
Lif	A	T	11: 4,269,201	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,471,122	D556E	possibly damaging	Het
Myom2	G	T	8: 15,111,844	E954*	probably null	Het
Nr6a1	A	T	2: 38,742,936	I171N	probably damaging	Het
Nup210	C	A	6: 91,015,850	R1059L	probably benign	Het
Olfr1109	A	T	2: 87,092,569	V276E	probably damaging	Het
Olfr225	G	A	11: 59,613,803	V280M	probably damaging	Het
Olfr698	A	G	7: 106,752,773	I205T	probably benign	Het
Olfr743	A	G	14: 50,533,420	T3A	probably benign	Het
Olfr987	A	T	2: 85,331,520	I126N	probably damaging	Het
Ostm1	T	C	10: 42,698,217	V302A	probably damaging	Het
Oxct1	A	G	15: 4,101,189	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,268,555	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,977,571	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,584,423	V636G	possibly damaging	Het
Spata18	T	A	5: 73,671,248	L270Q	probably damaging	Het
Stard9	G	A	2: 120,705,802	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,628,909	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,459,034	V406M	probably benign	Het
Trpc5	T	A	X: 144,382,728	M900L	probably benign	Het
Ttc9c	T	C	19: 8,815,980	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,757,080	E275G	probably damaging	Het

Other mutations in G3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:G3bp2	APN	5	92065848	missense	probably damaging	0.98
IGL02124:G3bp2	APN	5	92073247	missense	possibly damaging	0.92
IGL02519:G3bp2	APN	5	92066524	missense	possibly damaging	0.90
IGL03146:G3bp2	APN	5	92066540	missense	probably damaging	1.00
IGL03183:G3bp2	APN	5	92055046	missense	possibly damaging	0.82
IGL03385:G3bp2	APN	5	92068395	missense	probably damaging	1.00
R0558:G3bp2	UTSW	5	92073197	missense	probably damaging	1.00
R1067:G3bp2	UTSW	5	92063328	splice site	probably benign
R1621:G3bp2	UTSW	5	92056278	missense	probably damaging	1.00
R2294:G3bp2	UTSW	5	92058028	missense	probably damaging	1.00
R3698:G3bp2	UTSW	5	92056280	missense	possibly damaging	0.91
R4159:G3bp2	UTSW	5	92064401	missense	probably benign	0.00
R4195:G3bp2	UTSW	5	92055416	missense	probably damaging	0.99
R4754:G3bp2	UTSW	5	92054909	missense	possibly damaging	0.85
R5518:G3bp2	UTSW	5	92068488	missense	probably benign	0.00
R5680:G3bp2	UTSW	5	92068360	missense	probably damaging	1.00
R5937:G3bp2	UTSW	5	92055397	missense	probably damaging	1.00

Posted On

2016-08-02