Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Gmeb1'

574156

Institutional Source

Beutler Lab

Gene Symbol

Gmeb1

Ensembl Gene

ENSMUSG00000028901

Gene Name

glucocorticoid modulatory element binding protein 1

Synonyms

1110050A04Rik

MMRRC Submission

045483-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131948336-131988913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 131953085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 560 (L560F)

Ref Sequence

ENSEMBL: ENSMUSP00000030733 (fasta)

Gene Model

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

AlphaFold

Q9JL60

Predicted Effect

probably damaging
Transcript: ENSMUST00000030733
AA Change: L560F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: L560F

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 damaging
Transcript: ENSMUST00000105964
AA Change: L560F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: L560F

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 damaging
Transcript: ENSMUST00000105965
AA Change: L560F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: L560F

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 damaging
Transcript: ENSMUST00000168553
AA Change: L560F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: L560F

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cast	G	T	13: 74,956,577 (GRCm39)	A18E	unknown	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Neurod1	T	A	2: 79,285,290 (GRCm39)	D31V	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or4a72	A	G	2: 89,405,449 (GRCm39)	V207A	probably benign	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743 (GRCm39)	D265E	probably damaging	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	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	131,973,324 (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
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'- AAAGGCAGCTTGTTCTGTCC -3'
(R):5'- GTTGAAAGCACCTCTGAGGATG -3'

Sequencing Primer
(F):5'- CTGTCCAGTTGTCAATGAGGAAG -3'
(R):5'- TGGGCAGACCATCATTGAAATC -3'

Posted On

2019-09-13