Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Gmeb1'

192757

Institutional Source

Beutler Lab

Gene Symbol

Gmeb1

Ensembl Gene

ENSMUSG00000028901

Gene Name

glucocorticoid modulatory element binding protein 1

Synonyms

1110050A04Rik

MMRRC Submission

039793-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R1761 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

131948336-131988913 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 131962198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 154 (Q154*)

Ref Sequence

ENSEMBL: ENSMUSP00000131331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030733] [ENSMUST00000105964] [ENSMUST00000105965] [ENSMUST00000168553]

AlphaFold

Q9JL60

Predicted Effect

probably null
Transcript: ENSMUST00000030733
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: Q154*

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
SAND	83	156	8.01e-36	SMART
low complexity region	232	244	N/A	INTRINSIC
coiled coil region	311	345	N/A	INTRINSIC
low complexity region	364	371	N/A	INTRINSIC
low complexity region	457	467	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105964
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: Q154*

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
SAND	83	156	8.01e-36	SMART
low complexity region	232	244	N/A	INTRINSIC
coiled coil region	311	345	N/A	INTRINSIC
low complexity region	364	371	N/A	INTRINSIC
low complexity region	457	467	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105965
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: Q154*

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
SAND	83	156	8.01e-36	SMART
low complexity region	232	244	N/A	INTRINSIC
coiled coil region	311	345	N/A	INTRINSIC
low complexity region	364	371	N/A	INTRINSIC
low complexity region	457	467	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131763

Predicted Effect

probably null
Transcript: ENSMUST00000168553
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: Q154*

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
SAND	83	156	8.01e-36	SMART
low complexity region	232	244	N/A	INTRINSIC
coiled coil region	311	345	N/A	INTRINSIC
low complexity region	364	371	N/A	INTRINSIC
low complexity region	457	467	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Acan	T	A	7: 78,743,833 (GRCm39)	Y621*	probably null	Het
Aig1	T	C	10: 13,566,328 (GRCm39)	Y152C	probably damaging	Het
Arhgap33	C	T	7: 30,232,488 (GRCm39)		probably null	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Cbx5	T	C	15: 103,121,607 (GRCm39)	D10G	possibly damaging	Het
Ccdc191	A	G	16: 43,763,873 (GRCm39)	I445V	probably benign	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Chil6	A	G	3: 106,301,654 (GRCm39)	F149L	probably damaging	Het
Cntn5	T	C	9: 10,172,059 (GRCm39)	T42A	probably benign	Het
Cpn2	A	T	16: 30,079,014 (GRCm39)	I229N	probably damaging	Het
Cpne8	A	G	15: 90,532,821 (GRCm39)	V62A	probably damaging	Het
Cr2	A	G	1: 194,837,431 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,055,958 (GRCm39)	H248L	probably benign	Het
Csn1s1	A	G	5: 87,826,894 (GRCm39)	S254G	probably benign	Het
Cubn	A	G	2: 13,494,128 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,998,890 (GRCm39)	N3525S	probably damaging	Het
Dpp3	A	G	19: 4,971,177 (GRCm39)	L220P	probably benign	Het
Fam110a	T	C	2: 151,812,125 (GRCm39)	E215G	probably benign	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Fat4	T	C	3: 38,941,638 (GRCm39)	V177A	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gimap5	A	T	6: 48,730,195 (GRCm39)	Q255L	probably damaging	Het
Gm4787	A	G	12: 81,423,950 (GRCm39)	L736S	probably benign	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Gpr179	A	C	11: 97,225,932 (GRCm39)	S2074R	probably benign	Het
Hddc2	G	T	10: 31,202,135 (GRCm39)	D161Y	probably damaging	Het
Hlcs	T	C	16: 94,068,866 (GRCm39)	D265G	probably benign	Het
Hspg2	A	T	4: 137,241,984 (GRCm39)	I573F	possibly damaging	Het
Il1b	T	C	2: 129,207,101 (GRCm39)	K220E	probably damaging	Het
Il5	T	C	11: 53,614,557 (GRCm39)	I66T	probably damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Lmf2	A	G	15: 89,236,916 (GRCm39)	V442A	possibly damaging	Het
Mcm2	T	C	6: 88,866,770 (GRCm39)	I412M	possibly damaging	Het
Mlkl	T	A	8: 112,060,355 (GRCm39)	L18F	possibly damaging	Het
Mug2	C	A	6: 122,051,664 (GRCm39)	H949N	probably benign	Het
Nf1	T	C	11: 79,275,091 (GRCm39)	F51L	probably damaging	Het
Or52j3	T	G	7: 102,836,325 (GRCm39)	C172W	probably damaging	Het
Or7d10	A	T	9: 19,832,445 (GRCm39)	*313C	probably null	Het
Or8k18	T	G	2: 86,085,383 (GRCm39)	Y218S	probably damaging	Het
P3h2	T	C	16: 25,803,800 (GRCm39)	E322G	probably damaging	Het
Pramel21	T	C	4: 143,342,438 (GRCm39)	Y182H	probably benign	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,104,476 (GRCm39)	V116A	possibly damaging	Het
Ranbp2	T	C	10: 58,321,563 (GRCm39)	V2620A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Scg3	T	A	9: 75,584,040 (GRCm39)	I154F	probably damaging	Het
Scgn	A	T	13: 24,143,689 (GRCm39)	F225Y	probably damaging	Het
Sec61b	T	C	4: 47,480,137 (GRCm39)	C58R	possibly damaging	Het
Slc25a46	G	T	18: 31,740,315 (GRCm39)	Q96K	possibly damaging	Het
Spmip6	G	A	4: 41,507,223 (GRCm39)	P109L	probably damaging	Het
Sptb	A	G	12: 76,659,382 (GRCm39)	F1173L	probably damaging	Het
Srcap	T	A	7: 127,134,017 (GRCm39)	C893S	probably damaging	Het
Tet3	T	C	6: 83,380,641 (GRCm39)	E509G	probably damaging	Het
Timm10b	C	T	7: 105,332,915 (GRCm39)	R897*	probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Tti1	T	C	2: 157,849,617 (GRCm39)	I541V	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vgll3	A	T	16: 65,636,614 (GRCm39)	D310V	probably damaging	Het
Vmac	A	G	17: 57,022,788 (GRCm39)	L74P	probably damaging	Het
Zbtb1	A	T	12: 76,432,595 (GRCm39)	K194*	probably null	Het
Zfp429	A	G	13: 67,544,195 (GRCm39)	M76T	probably benign	Het
Zfp808	T	A	13: 62,319,460 (GRCm39)	C230S	possibly damaging	Het
Zfp980	A	G	4: 145,428,612 (GRCm39)	Y447C	probably damaging	Het
Zfp985	A	G	4: 147,668,502 (GRCm39)	T457A	probably benign	Het

Other mutations in Gmeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Gmeb1	APN	4	131,955,296 (GRCm39)	missense	probably benign	0.00
IGL02089:Gmeb1	APN	4	131,953,147 (GRCm39)	missense	probably damaging	1.00
R0137:Gmeb1	UTSW	4	131,959,419 (GRCm39)	missense	probably benign	0.01
R0326:Gmeb1	UTSW	4	131,969,663 (GRCm39)	missense	probably damaging	0.98
R0611:Gmeb1	UTSW	4	131,953,386 (GRCm39)	nonsense	probably null
R0898:Gmeb1	UTSW	4	131,962,093 (GRCm39)	missense	probably benign	0.01
R1317:Gmeb1	UTSW	4	131,962,198 (GRCm39)	nonsense	probably null
R1453:Gmeb1	UTSW	4	131,969,759 (GRCm39)	missense	possibly damaging	0.56
R1573:Gmeb1	UTSW	4	131,979,051 (GRCm39)	missense	probably benign	0.12
R1751:Gmeb1	UTSW	4	131,962,198 (GRCm39)	nonsense	probably null
R1754:Gmeb1	UTSW	4	131,959,338 (GRCm39)	missense	probably benign
R5203:Gmeb1	UTSW	4	131,959,320 (GRCm39)	splice site	probably null
R6241:Gmeb1	UTSW	4	131,973,324 (GRCm39)	missense	probably benign	0.00
R6241:Gmeb1	UTSW	4	131,969,688 (GRCm39)	missense	possibly damaging	0.64
R7103:Gmeb1	UTSW	4	131,962,179 (GRCm39)	missense	probably damaging	0.99
R7192:Gmeb1	UTSW	4	131,955,201 (GRCm39)	missense	probably benign	0.03
R7401:Gmeb1	UTSW	4	131,953,085 (GRCm39)	missense	probably damaging	0.97
R7528:Gmeb1	UTSW	4	131,959,361 (GRCm39)	missense	possibly damaging	0.49
R9055:Gmeb1	UTSW	4	131,964,425 (GRCm39)	missense	probably damaging	1.00
R9317:Gmeb1	UTSW	4	131,953,349 (GRCm39)	missense	probably benign	0.45
R9442:Gmeb1	UTSW	4	131,962,156 (GRCm39)	missense	probably damaging	0.99
R9559:Gmeb1	UTSW	4	131,953,140 (GRCm39)	missense	probably benign	0.21
R9644:Gmeb1	UTSW	4	131,959,440 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCAGGGTAAGATCCTACCCACG -3'
(R):5'- GGTGAAGAACACTGACACTCCACAG -3'

Sequencing Primer
(F):5'- gggaggcagaagcaagag -3'
(R):5'- CTCCACAGTCTCAGAAGAGTAGTG -3'

Posted On

2014-05-23