Mutagenetix > Incidental Mutation

Incidental Mutation 'R5708:Gmeb2'

452064

Institutional Source

Beutler Lab

Gene Symbol

Gmeb2

Ensembl Gene

ENSMUSG00000038705

Gene Name

glucocorticoid modulatory element binding protein 2

Synonyms

MMRRC Submission

043333-MU

Accession Numbers

Essential gene?

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

Stock #

R5708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180893242-180929828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180906782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 117 (C117S)

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: C117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: C117S

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: C117S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
AA Change: C117S

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: C117S

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

SMART Domains

Protein: ENSMUSP00000116854
Gene: ENSMUSG00000038705
AA Change: C117S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147665

Meta Mutation Damage Score

0.9507

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	A	G	8: 84,729,627 (GRCm39)	K101R	probably benign	Het
4933430I17Rik	T	C	4: 62,444,106 (GRCm39)	S18P	probably benign	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aox4	G	T	1: 58,285,032 (GRCm39)	A595S	possibly damaging	Het
Asxl2	T	A	12: 3,550,603 (GRCm39)	S782T	possibly damaging	Het
C1s2	A	T	6: 124,602,702 (GRCm39)	L503*	probably null	Het
C7	A	G	15: 5,044,883 (GRCm39)	V385A	possibly damaging	Het
Cdh20	T	C	1: 104,912,635 (GRCm39)	F630L	probably damaging	Het
Cdk14	A	C	5: 5,316,036 (GRCm39)		probably benign	Het
Cdkl4	T	C	17: 80,846,951 (GRCm39)	I239M	possibly damaging	Het
Cfap299	A	T	5: 98,885,566 (GRCm39)	M158L	probably benign	Het
Col11a1	A	G	3: 113,890,743 (GRCm39)	N360S	unknown	Het
D630003M21Rik	A	G	2: 158,062,312 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,422,016 (GRCm39)	P135S	probably damaging	Het
Dpysl2	A	G	14: 67,050,595 (GRCm39)	S421P	probably benign	Het
Edn1	A	T	13: 42,457,143 (GRCm39)	M59L	probably benign	Het
EU599041	A	G	7: 42,875,311 (GRCm39)		noncoding transcript	Het
Furin	A	G	7: 80,047,603 (GRCm39)		probably benign	Het
Gkn2	T	C	6: 87,354,418 (GRCm39)	L94P	probably damaging	Het
Greb1	T	A	12: 16,723,843 (GRCm39)	I1869F	probably benign	Het
Heg1	A	G	16: 33,562,774 (GRCm39)	E1119G	probably damaging	Het
Hmgcs2	T	A	3: 98,198,478 (GRCm39)	L127Q	probably damaging	Het
Insyn2a	C	A	7: 134,520,525 (GRCm39)	V2F	probably damaging	Het
Kcnh6	A	G	11: 105,911,082 (GRCm39)	R493G	probably benign	Het
Kcnj11	C	T	7: 45,749,242 (GRCm39)	R27H	probably benign	Het
Klra14-ps	A	G	6: 130,134,751 (GRCm39)		noncoding transcript	Het
Lgmn	A	T	12: 102,370,587 (GRCm39)	N114K	possibly damaging	Het
Lipg	C	T	18: 75,088,505 (GRCm39)	M148I	possibly damaging	Het
Megf8	G	T	7: 25,034,022 (GRCm39)	R607L	probably benign	Het
Mks1	A	G	11: 87,747,665 (GRCm39)	T183A	probably benign	Het
Mllt11	A	G	3: 95,127,515 (GRCm39)	V85A	probably benign	Het
Mpo	A	T	11: 87,692,581 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,575,515 (GRCm39)		probably benign	Het
Myoz3	T	C	18: 60,712,104 (GRCm39)	Y158C	probably damaging	Het
Or11g25	A	T	14: 50,723,452 (GRCm39)	D179V	probably damaging	Het
Or4k41	A	G	2: 111,280,354 (GRCm39)	R290G	probably damaging	Het
Or5ae1	A	G	7: 84,565,391 (GRCm39)	I135V	possibly damaging	Het
Polq	T	A	16: 36,881,380 (GRCm39)	S902R	probably damaging	Het
Rarb	T	C	14: 16,548,545 (GRCm38)	T93A	probably damaging	Het
Rgs12	A	G	5: 35,123,696 (GRCm39)	D493G	probably benign	Het
Sec31b	T	A	19: 44,511,583 (GRCm39)	D606V	probably damaging	Het
Setd2	T	C	9: 110,377,891 (GRCm39)	F569L	possibly damaging	Het
Sil1	T	C	18: 35,474,170 (GRCm39)	E149G	probably benign	Het
Spata13	T	G	14: 60,929,452 (GRCm39)	S337A	probably damaging	Het
Srfbp1	T	A	18: 52,622,018 (GRCm39)	L360M	probably damaging	Het
Tecta	A	T	9: 42,250,222 (GRCm39)	C1852S	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,360 (GRCm39)	T208A	probably damaging	Het
Tmem38b	G	C	4: 53,849,051 (GRCm39)		probably null	Het
Tnfrsf11a	T	A	1: 105,741,545 (GRCm39)		probably null	Het
Tnik	T	A	3: 28,666,120 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,197 (GRCm39)		probably benign	Het
Zfp930	T	C	8: 69,679,113 (GRCm39)	V41A	probably benign	Het
Zscan18	A	T	7: 12,508,383 (GRCm39)	D372E	probably benign	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
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
R8189:Gmeb2	UTSW	2	180,919,760 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATTCATCAGTCCCAGAG -3'
(R):5'- TCCTAGGCTCTGTTTCAGGC -3'

Sequencing Primer
(F):5'- GCATTCATCAGTCCCAGAGATTATC -3'
(R):5'- TGGATCTCCTTTCAGTTTCAGG -3'

Posted On

2017-01-03