Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00687:G3bp2'

10862

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 #

IGL00687

Quality Score

Status

Chromosome

Chromosomal Location

92052146-92083719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92065848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 150 (E150G)

Ref Sequence

ENSEMBL: ENSMUSP00000144456 (fasta)

Gene Model

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

AlphaFold

P97379

Predicted Effect

probably damaging
Transcript: ENSMUST00000113127
AA Change: E150G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: E150G

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 damaging
Transcript: ENSMUST00000164378
AA Change: E150G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: E150G

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 damaging
Transcript: ENSMUST00000167918
AA Change: E150G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: E150G

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 damaging
Transcript: ENSMUST00000169094
AA Change: E150G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: E150G

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 damaging
Transcript: ENSMUST00000202258
AA Change: E150G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: E150G

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0a1	T	A	11: 101,030,505		probably null	Het
Cpb2	A	G	14: 75,275,093	I315M	possibly damaging	Het
Dnah11	T	A	12: 117,922,004		probably benign	Het
Ibsp	A	G	5: 104,310,068	E157G	probably benign	Het
Ms4a4c	T	C	19: 11,421,318	S167P	possibly damaging	Het
Pkhd1	T	C	1: 20,524,070	N1273S	probably benign	Het
Rap1gap2	T	A	11: 74,416,259	D337V	probably benign	Het
Slc35f3	T	C	8: 126,382,164	F151L	probably benign	Het
Unc5d	A	T	8: 28,715,813		probably benign	Het
Zfp711	G	A	X: 112,624,811	R284Q	probably damaging	Het

Other mutations in G3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03195:G3bp2	APN	5	92068508	splice site	probably benign
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
R8769:G3bp2	UTSW	5	92083497	intron	probably benign
R8945:G3bp2	UTSW	5	92068422	missense	probably damaging	1.00

Posted On

2012-12-06