Mutagenetix > Incidental Mutation

Incidental Mutation 'R5934:Gmeb2'

462078

Institutional Source

Beutler Lab

Gene Symbol

Gmeb2

Ensembl Gene

ENSMUSG00000038705

Gene Name

glucocorticoid modulatory element binding protein 2

Synonyms

MMRRC Submission

044128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180893242-180929828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180897367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 250 (I250M)

Ref Sequence

ENSEMBL: ENSMUSP00000037075 (fasta)

Gene Model

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

AlphaFold

P58929

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049032
AA Change: I250M

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: I250M

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

SMART Domains

Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,980,806 (GRCm39)	V596A	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg1l	G	A	10: 42,194,682 (GRCm39)	T370M	probably damaging	Het
Aldh2	T	C	5: 121,717,678 (GRCm39)	T118A	probably benign	Het
Apcdd1	C	T	18: 63,084,940 (GRCm39)	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,299 (GRCm39)		probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cd96	G	T	16: 45,938,266 (GRCm39)	D66E	probably benign	Het
Cdh5	T	A	8: 104,864,900 (GRCm39)	V506E	probably benign	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Ckb	A	T	12: 111,636,663 (GRCm39)	V237D	probably damaging	Het
Col6a6	C	T	9: 105,644,274 (GRCm39)	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Ddhd2	A	G	8: 26,243,140 (GRCm39)	S19P	probably damaging	Het
Dnah17	G	T	11: 117,931,928 (GRCm39)	D3681E	probably benign	Het
Dop1a	T	A	9: 86,424,495 (GRCm39)	Y2068*	probably null	Het
Fryl	T	C	5: 73,248,060 (GRCm39)	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,817,092 (GRCm39)	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,139,664 (GRCm39)	V202A	probably damaging	Het
Gpr88	C	T	3: 116,045,958 (GRCm39)	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,417,607 (GRCm39)	V190L	possibly damaging	Het
Heg1	C	T	16: 33,547,289 (GRCm39)	T461M	probably damaging	Het
Hspg2	A	G	4: 137,246,083 (GRCm39)	Y989C	probably damaging	Het
Ift74	A	T	4: 94,520,971 (GRCm39)	M175L	probably benign	Het
Kcnh3	G	A	15: 99,124,414 (GRCm39)	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,918,721 (GRCm39)	V702F	probably benign	Het
Klhl1	A	G	14: 96,360,651 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,618,249 (GRCm39)	V916A	probably benign	Het
Macir	A	T	1: 97,573,655 (GRCm39)	C137S	possibly damaging	Het
Mpp4	A	T	1: 59,160,535 (GRCm39)	D589E	probably damaging	Het
Msl2	T	C	9: 100,979,017 (GRCm39)	C464R	probably damaging	Het
Mucl2	A	T	15: 103,927,832 (GRCm39)	S42T	probably benign	Het
Musk	T	A	4: 58,373,613 (GRCm39)	L838Q	probably damaging	Het
Nos1	A	G	5: 118,074,510 (GRCm39)	H1052R	probably damaging	Het
Or10d4b	C	T	9: 39,534,479 (GRCm39)	T20I	probably damaging	Het
Or10v1	A	G	19: 11,874,293 (GRCm39)	R303G	probably benign	Het
Or1j20	T	A	2: 36,760,280 (GRCm39)	I234N	probably benign	Het
Or2at1	A	T	7: 99,416,596 (GRCm39)	I76F	probably damaging	Het
Or4d2	T	C	11: 87,784,049 (GRCm39)	R234G	possibly damaging	Het
Or52e15	C	A	7: 104,645,385 (GRCm39)	C242F	probably damaging	Het
Or56a5	G	A	7: 104,792,867 (GRCm39)	S211F	probably benign	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8u8	T	A	2: 86,012,446 (GRCm39)	Q3L	probably benign	Het
Pard3	T	G	8: 128,115,819 (GRCm39)	L636R	probably damaging	Het
Pigr	A	T	1: 130,772,264 (GRCm39)	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369 (GRCm39)	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,369,060 (GRCm39)	V1992E	probably damaging	Het
Psma5-ps	T	C	10: 85,150,145 (GRCm39)		noncoding transcript	Het
Ptpdc1	T	C	13: 48,739,845 (GRCm39)	K468E	probably benign	Het
Rab22a	A	G	2: 173,503,297 (GRCm39)	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,245 (GRCm39)	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979 (GRCm39)	G660D	probably damaging	Het
Rgs4	T	C	1: 169,572,807 (GRCm39)	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,599,040 (GRCm39)	D4645E	probably damaging	Het
Sf3b3	A	G	8: 111,550,102 (GRCm39)	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,701,672 (GRCm39)	R430L	probably damaging	Het
Slfn1	T	A	11: 83,012,770 (GRCm39)	Y295*	probably null	Het
Slfn5	C	T	11: 82,847,418 (GRCm39)	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,707,629 (GRCm39)		probably null	Het
Tchh	A	T	3: 93,351,419 (GRCm39)	Q286H	unknown	Het
Tmem184c	A	T	8: 78,331,352 (GRCm39)	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,656,266 (GRCm39)	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,023,601 (GRCm39)	L253F	probably damaging	Het
Usp19	C	T	9: 108,369,766 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,355,148 (GRCm39)	I3303K	possibly damaging	Het
Zfp574	G	A	7: 24,779,757 (GRCm39)	A260T	probably benign	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
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'- TGGACCTCTTATGGAAGGAGC -3'
(R):5'- AACTCGATGCTTTATGTGCTGAC -3'

Sequencing Primer
(F):5'- TCTTATGGAAGGAGCCAACTC -3'
(R):5'- CCTTCTGAGGTGATGTCCTTTACTG -3'

Posted On

2017-02-28