Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Gmeb2'

27021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gmeb2

Ensembl Gene

ENSMUSG00000038705

Gene Name

glucocorticoid modulatory element binding protein 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

181251449-181288035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181259043 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 187 (V187E)

Ref Sequence

ENSEMBL: ENSMUSP00000037075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049032] [ENSMUST00000130475] [ENSMUST00000141003] [ENSMUST00000141110]

Predicted Effect

probably benign
Transcript: ENSMUST00000049032
AA Change: V187E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: V187E

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
SAND	90	163	1.66e-42	SMART
coiled coil region	304	347	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	475	488	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123148

Predicted Effect

probably benign
Transcript: ENSMUST00000130475
AA Change: V187E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
AA Change: V187E

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
SAND	90	163	1.66e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141003

SMART Domains

Protein: ENSMUSP00000116854
Gene: ENSMUSG00000038705

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
Pfam:SAND	81	126	7.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141110

SMART Domains

Protein: ENSMUSP00000115853
Gene: ENSMUSG00000038705

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Gmeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02882:Gmeb2	APN	2	181265883	missense	probably damaging	0.98
R0437:Gmeb2	UTSW	2	181253973	missense	possibly damaging	0.83
R1499:Gmeb2	UTSW	2	181255226	missense	probably benign	0.01
R2064:Gmeb2	UTSW	2	181253970	missense	probably benign	0.42
R2127:Gmeb2	UTSW	2	181259049	missense	probably benign	0.21
R2517:Gmeb2	UTSW	2	181259026	missense	probably benign	0.12
R3087:Gmeb2	UTSW	2	181255640	splice site	probably benign
R4202:Gmeb2	UTSW	2	181253973	missense	possibly damaging	0.83
R4470:Gmeb2	UTSW	2	181265145	splice site	probably null
R4936:Gmeb2	UTSW	2	181254246	missense	probably benign	0.04
R5296:Gmeb2	UTSW	2	181255986	intron	probably benign
R5402:Gmeb2	UTSW	2	181255957	splice site	probably null
R5708:Gmeb2	UTSW	2	181264989	missense	probably damaging	1.00
R5934:Gmeb2	UTSW	2	181255574	missense	possibly damaging	0.63
R7673:Gmeb2	UTSW	2	181260388	missense	probably benign	0.01
R8189:Gmeb2	UTSW	2	181277967	missense	probably damaging	0.99

Posted On

2013-04-17