Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Gmeb1'

161593

Institutional Source

Beutler Lab

Gene Symbol

Gmeb1

Ensembl Gene

ENSMUSG00000028901

Gene Name

glucocorticoid modulatory element binding protein 1

Synonyms

1110050A04Rik

MMRRC Submission

039508-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R1453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131948336-131988913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131969759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 71 (D71E)

Ref Sequence

ENSEMBL: ENSMUSP00000131331 (fasta)

Gene Model

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

AlphaFold

Q9JL60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030733
AA Change: D71E

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: D71E

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

possibly damaging
Transcript: ENSMUST00000105964
AA Change: D71E

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: D71E

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

possibly damaging
Transcript: ENSMUST00000105965
AA Change: D71E

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: D71E

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: ENSMUST00000119355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125534

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168553
AA Change: D71E

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: D71E

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,866 (GRCm39)	T104S	probably benign	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Chrdl2	T	C	7: 99,666,197 (GRCm39)	V39A	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dppa4	G	A	16: 48,111,596 (GRCm39)	A194T	probably damaging	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Or5an1c	A	T	19: 12,218,956 (GRCm39)	I23K	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,735,437 (GRCm39)	K299E	probably benign	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (GRCm39)		probably null	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
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
R1761:Gmeb1	UTSW	4	131,962,198 (GRCm39)	nonsense	probably null
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'- AGCCCTCGCCTGGGATGCTG -3'
(R):5'- AGTTCCCTGTTGGTGCTGGGGATATA -3'

Sequencing Primer
(F):5'- GGATGCTGAGACCCTGAATC -3'
(R):5'- ACCAACCCATGGTCTGAAAG -3'

Posted On

2014-03-14