Mutagenetix > Incidental Mutation

Incidental Mutation 'R6241:Gmeb1'

505226

Institutional Source

Beutler Lab

Gene Symbol

Gmeb1

Ensembl Gene

ENSMUSG00000028901

Gene Name

glucocorticoid modulatory element binding protein 1

Synonyms

1110050A04Rik

MMRRC Submission

044402-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R6241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131948336-131988913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131973324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

Ref Sequence

ENSEMBL: ENSMUSP00000131331 (fasta)

Gene Model

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

AlphaFold

Q9JL60

Predicted Effect

probably benign
Transcript: ENSMUST00000030733
AA Change: S62P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: S62P

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 benign
Transcript: ENSMUST00000105964
AA Change: S62P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: S62P

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 benign
Transcript: ENSMUST00000105965
AA Change: S62P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: S62P

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

probably benign
Transcript: ENSMUST00000168553
AA Change: S62P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: S62P

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,788 (GRCm39)	I385V	probably benign	Het
Ablim2	A	G	5: 36,032,241 (GRCm39)	D622G	probably damaging	Het
Acsbg1	A	T	9: 54,549,946 (GRCm39)	S86T	probably damaging	Het
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Ank2	A	C	3: 126,846,397 (GRCm39)	D199E	probably damaging	Het
Art2a	T	A	7: 101,204,452 (GRCm39)	M29L	probably benign	Het
Bbs2	C	A	8: 94,824,863 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,815,074 (GRCm39)	I1402N	probably damaging	Het
C1qtnf9	C	A	14: 61,017,069 (GRCm39)	P200T	possibly damaging	Het
Ciita	T	C	16: 10,329,767 (GRCm39)	Y684H	probably damaging	Het
Dennd1c	T	C	17: 57,373,272 (GRCm39)	N734D	probably benign	Het
Depdc1b	A	T	13: 108,460,653 (GRCm39)	I88F	possibly damaging	Het
Dsg2	A	G	18: 20,723,274 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,394,761 (GRCm39)	T154A	probably damaging	Het
Golga5	T	A	12: 102,438,732 (GRCm39)	V149D	probably damaging	Het
H1f7	A	C	15: 98,154,652 (GRCm39)	S166A	unknown	Het
Hivep1	T	C	13: 42,311,846 (GRCm39)	L1362P	probably benign	Het
Ift81	T	C	5: 122,740,414 (GRCm39)	M205V	probably benign	Het
Iglv3	T	A	16: 19,059,968 (GRCm39)	Q120L	possibly damaging	Het
Ints9	C	T	14: 65,217,659 (GRCm39)	T62I	possibly damaging	Het
Itga1	G	T	13: 115,096,673 (GRCm39)		probably null	Het
Katnip	C	T	7: 125,472,006 (GRCm39)	H1532Y	probably benign	Het
Krt77	A	C	15: 101,773,988 (GRCm39)	I222S	probably damaging	Het
Mrps25	A	G	6: 92,160,819 (GRCm39)		probably null	Het
Mrps27	A	G	13: 99,548,754 (GRCm39)	T297A	probably benign	Het
Mup15	A	T	4: 61,357,850 (GRCm39)	L7Q	unknown	Het
Naip1	T	A	13: 100,562,169 (GRCm39)	I999F	probably damaging	Het
Ndst1	A	G	18: 60,836,901 (GRCm39)	F387L	probably damaging	Het
Nudt9	T	C	5: 104,202,151 (GRCm39)	S71P	probably damaging	Het
Or14c41	C	A	7: 86,235,245 (GRCm39)	A254D	probably benign	Het
Or2b4	A	G	17: 38,116,432 (GRCm39)	Y132C	probably damaging	Het
Or5al1	T	G	2: 85,990,380 (GRCm39)	E111D	probably damaging	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pcolce	A	C	5: 137,603,496 (GRCm39)	S446A	probably benign	Het
Per2	T	A	1: 91,349,251 (GRCm39)	N1040I	probably damaging	Het
Pla2g6	A	T	15: 79,188,592 (GRCm39)	S422T	probably benign	Het
Pla2r1	G	T	2: 60,332,543 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,752,094 (GRCm39)	V100A	possibly damaging	Het
Polr1d	C	T	5: 147,015,533 (GRCm39)	T72M	probably benign	Het
Psd3	A	C	8: 68,270,791 (GRCm39)		probably benign	Het
Radil	T	C	5: 142,480,697 (GRCm39)	E586G	probably damaging	Het
Rnf150	A	G	8: 83,591,093 (GRCm39)	N152S	possibly damaging	Het
Serpina1b	T	A	12: 103,695,515 (GRCm39)		probably null	Het
Setd3	C	T	12: 108,124,114 (GRCm39)	E192K	probably benign	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Taok3	T	A	5: 117,410,262 (GRCm39)	M818K	probably benign	Het
Tmem131l	T	C	3: 83,829,471 (GRCm39)	N1062S	probably benign	Het
Tmx4	C	T	2: 134,481,425 (GRCm39)		probably benign	Het
Traip	G	A	9: 107,845,933 (GRCm39)	C342Y	probably benign	Het
Traj9	G	T	14: 54,446,890 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vegfc	T	C	8: 54,634,289 (GRCm39)	S323P	probably benign	Het
Vinac1	T	C	2: 128,879,301 (GRCm39)	D875G	possibly damaging	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
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	131,969,688 (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'- AGCAGTGAACATCCTGCTGG -3'
(R):5'- GCCTCTTGAAGTTTACAATGGG -3'

Sequencing Primer
(F):5'- AACATCCTGCTGGGGGCC -3'
(R):5'- GGAAACCTGTCAAAGTCATGCCG -3'

Posted On

2018-02-28