Mutagenetix > Incidental Mutation

Incidental Mutation 'R8189:Gmeb2'

635010

Institutional Source

Beutler Lab

Gene Symbol

Gmeb2

Ensembl Gene

ENSMUSG00000038705

Gene Name

glucocorticoid modulatory element binding protein 2

Synonyms

MMRRC Submission

067612-MU

Accession Numbers

Essential gene?

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

Stock #

R8189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180893242-180929828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180919760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 38 (T38M)

Ref Sequence

ENSEMBL: ENSMUSP00000037075 (fasta)

Gene Model

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

AlphaFold

P58929

Predicted Effect

probably damaging
Transcript: ENSMUST00000049032
AA Change: T38M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: T38M

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

probably damaging
Transcript: ENSMUST00000130475
AA Change: T38M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
AA Change: T38M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141003
AA Change: T38M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116854
Gene: ENSMUSG00000038705
AA Change: T38M

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 damaging
Transcript: ENSMUST00000141110
AA Change: T38M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115853
Gene: ENSMUSG00000038705
AA Change: T38M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,885 (GRCm39)	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,320,880 (GRCm39)	P516S	probably benign	Het
Bag6	A	G	17: 35,364,214 (GRCm39)		probably null	Het
Cchcr1	A	G	17: 35,837,563 (GRCm39)	I422V	probably benign	Het
Ceacam1	A	G	7: 25,173,343 (GRCm39)	S282P	probably damaging	Het
Chka	G	T	19: 3,925,759 (GRCm39)	E159*	probably null	Het
Ckmt2	T	C	13: 92,003,894 (GRCm39)	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 96,030,248 (GRCm39)		probably benign	Het
Ctsq	A	G	13: 61,184,969 (GRCm39)	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,135,106 (GRCm39)	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,804,889 (GRCm39)	E127K	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Fgd6	T	C	10: 93,910,077 (GRCm39)	L794P	probably benign	Het
Fgfr2	G	A	7: 129,774,629 (GRCm39)	T654I	probably damaging	Het
Gria1	T	C	11: 57,108,625 (GRCm39)	F243L	probably benign	Het
Gria2	A	T	3: 80,629,489 (GRCm39)	D244E	probably damaging	Het
Ints2	T	A	11: 86,106,396 (GRCm39)	I1005F	probably damaging	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,268,756 (GRCm39)	F2658L	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mcf2l	A	G	8: 13,013,164 (GRCm39)	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,202,502 (GRCm39)	Y74*	probably null	Het
Mtrex	T	A	13: 113,028,515 (GRCm39)	R628S	possibly damaging	Het
Nrcam	C	A	12: 44,617,291 (GRCm39)	P740T	possibly damaging	Het
Nrxn1	C	T	17: 91,011,637 (GRCm39)	V331I	probably damaging	Het
Or2a57	T	C	6: 43,213,013 (GRCm39)	V157A	probably benign	Het
Or4f17-ps1	T	C	2: 111,358,118 (GRCm39)	V153A		Het
Or5k1b	T	A	16: 58,581,288 (GRCm39)	N84Y	probably damaging	Het
Or5p52	A	G	7: 107,501,939 (GRCm39)	N5S	probably damaging	Het
Or6c66b	T	A	10: 129,377,122 (GRCm39)	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,733,337 (GRCm39)	F479L	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Scaper	A	T	9: 55,819,404 (GRCm39)	F104I	probably damaging	Het
Serpinb3c	A	T	1: 107,204,039 (GRCm39)	C58S	probably benign	Het
Setdb1	A	G	3: 95,254,022 (GRCm39)	V260A	probably damaging	Het
Shank3	A	G	15: 89,433,439 (GRCm39)	T1395A	probably benign	Het
Slc35b4	A	G	6: 34,144,570 (GRCm39)	I95T	probably damaging	Het
Trpm5	A	G	7: 142,635,575 (GRCm39)	V599A	probably benign	Het
Ttk	A	G	9: 83,729,272 (GRCm39)	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp17le	C	T	7: 104,418,555 (GRCm39)	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,434,713 (GRCm39)	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,478,618 (GRCm39)	L43Q	probably damaging	Het

Other mutations in Gmeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Gmeb2	APN	2	180,900,836 (GRCm39)	missense	probably benign	0.18
IGL02882:Gmeb2	APN	2	180,907,676 (GRCm39)	missense	probably damaging	0.98
R0437:Gmeb2	UTSW	2	180,895,766 (GRCm39)	missense	possibly damaging	0.83
R1499:Gmeb2	UTSW	2	180,897,019 (GRCm39)	missense	probably benign	0.01
R2064:Gmeb2	UTSW	2	180,895,763 (GRCm39)	missense	probably benign	0.42
R2127:Gmeb2	UTSW	2	180,900,842 (GRCm39)	missense	probably benign	0.21
R2517:Gmeb2	UTSW	2	180,900,819 (GRCm39)	missense	probably benign	0.12
R3087:Gmeb2	UTSW	2	180,897,433 (GRCm39)	splice site	probably benign
R4202:Gmeb2	UTSW	2	180,895,766 (GRCm39)	missense	possibly damaging	0.83
R4470:Gmeb2	UTSW	2	180,906,938 (GRCm39)	splice site	probably null
R4936:Gmeb2	UTSW	2	180,896,039 (GRCm39)	missense	probably benign	0.04
R5296:Gmeb2	UTSW	2	180,897,779 (GRCm39)	intron	probably benign
R5402:Gmeb2	UTSW	2	180,897,750 (GRCm39)	splice site	probably null
R5708:Gmeb2	UTSW	2	180,906,782 (GRCm39)	missense	probably damaging	1.00
R5934:Gmeb2	UTSW	2	180,897,367 (GRCm39)	missense	possibly damaging	0.63
R7673:Gmeb2	UTSW	2	180,902,181 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGCCATATTGCAGTGATGAGC -3'
(R):5'- ATGACCCTGTGACCTGTGTC -3'

Sequencing Primer
(F):5'- GAGCTATCATCCTAGAATCTCCATTG -3'
(R):5'- CCTGCTTTGTTTGCTTTAGGAC -3'

Posted On

2020-07-13