Mutagenetix > Incidental Mutations

Incidental Mutation 'R3771:Med23'

273287

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

MMRRC Submission

040747-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24902201 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 810 (G810C)

Ref Sequence

ENSEMBL: ENSMUSP00000020159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176285] [ENSMUST00000177232]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020159
AA Change: G810C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: G810C

Domain	Start	End	E-Value	Type
Pfam:Med23	3	1310	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092646
AA Change: G816C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: G816C

Domain	Start	End	E-Value	Type
Pfam:Med23	4	1316	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176285
AA Change: G450C

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: G450C

Domain	Start	End	E-Value	Type
Pfam:Med23	1	51	4.4e-14	PFAM
Pfam:Med23	48	950	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176827

Predicted Effect

probably benign
Transcript: ENSMUST00000177232

SMART Domains

Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984

Domain	Start	End	E-Value	Type
Pfam:Med23	3	58	1.2e-10	PFAM

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with disorganization of the vasculature and peripheral nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,196	Y377H	probably damaging	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Aanat	G	T	11: 116,596,871	G132V	probably damaging	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adam26b	T	A	8: 43,520,714	D417V	probably damaging	Het
Ank1	T	C	8: 23,123,897	S1482P	probably benign	Het
Armc2	C	T	10: 41,922,227	V768M	probably damaging	Het
Ascc3	C	T	10: 50,720,718		probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	A	T	15: 21,578,554		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,810,485	I184V	probably benign	Het
Dagla	G	A	19: 10,248,467	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,020,981	K107R	probably benign	Het
Dpyd	G	A	3: 119,412,278		probably null	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,987,186	K87T	probably benign	Het
Fap	C	A	2: 62,533,010	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,317,215	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Irf2bp2	T	C	8: 126,591,811	K339E	probably damaging	Het
Kat6b	A	G	14: 21,517,098	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,328,563	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,613,345	C725F	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lrrn3	T	A	12: 41,452,870	I483L	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Numb	T	C	12: 83,799,576	D344G	probably damaging	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Ogg1	T	C	6: 113,333,843	V317A	possibly damaging	Het
Olfr822	A	G	10: 130,075,274	Y288C	probably damaging	Het
Olfr97	T	A	17: 37,231,465	I302F	possibly damaging	Het
Pclo	A	T	5: 14,539,408		probably null	Het
Pnpt1	T	C	11: 29,138,174	M195T	probably benign	Het
Polr3c	T	A	3: 96,725,854	T43S	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,418,523	T134S	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Ros1	G	T	10: 52,128,991	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tc2n	T	A	12: 101,694,574	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tex2	T	C	11: 106,546,894	D650G	unknown	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690	F16S	probably benign	Het
Usp16	T	C	16: 87,458,683	M1T	probably null	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Vpreb3	A	T	10: 75,939,966	V26E	probably benign	Het
Vps39	C	T	2: 120,342,016	V179I	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Med23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Med23	APN	10	24888584	missense	probably damaging	1.00
IGL00792:Med23	APN	10	24877004	missense	possibly damaging	0.93
IGL01289:Med23	APN	10	24902121	missense	probably damaging	1.00
IGL01469:Med23	APN	10	24882597	missense	probably damaging	1.00
IGL01598:Med23	APN	10	24903798	missense	probably benign	0.34
IGL02324:Med23	APN	10	24897341	missense	probably damaging	0.98
IGL02381:Med23	APN	10	24900728	missense	possibly damaging	0.95
IGL02465:Med23	APN	10	24903743	missense	probably damaging	0.96
IGL02554:Med23	APN	10	24898575	critical splice donor site	probably null
IGL02683:Med23	APN	10	24870717	missense	probably benign	0.00
PIT4362001:Med23	UTSW	10	24874571	missense	probably benign	0.01
R0080:Med23	UTSW	10	24912817	missense	probably benign	0.33
R0125:Med23	UTSW	10	24900788	missense	probably damaging	1.00
R0311:Med23	UTSW	10	24897358	missense	possibly damaging	0.95
R0765:Med23	UTSW	10	24900710	missense	probably damaging	1.00
R1302:Med23	UTSW	10	24888422	splice site	probably null
R1456:Med23	UTSW	10	24903652	splice site	probably benign
R1514:Med23	UTSW	10	24892667	splice site	probably benign
R1774:Med23	UTSW	10	24903686	missense	probably damaging	1.00
R1851:Med23	UTSW	10	24910870	splice site	probably null
R1928:Med23	UTSW	10	24909812	missense	probably benign
R1975:Med23	UTSW	10	24910766	missense	probably benign	0.01
R2011:Med23	UTSW	10	24879755	missense	possibly damaging	0.63
R2266:Med23	UTSW	10	24874601	missense	probably benign	0.00
R2309:Med23	UTSW	10	24870688	missense	probably damaging	0.99
R2507:Med23	UTSW	10	24910813	missense	probably damaging	1.00
R2566:Med23	UTSW	10	24888575	missense	probably damaging	1.00
R3720:Med23	UTSW	10	24891120	missense	probably damaging	1.00
R3811:Med23	UTSW	10	24892592	nonsense	probably null
R3811:Med23	UTSW	10	24892593	splice site	probably null
R4305:Med23	UTSW	10	24904270	nonsense	probably null
R4323:Med23	UTSW	10	24870705	missense	probably benign	0.02
R4701:Med23	UTSW	10	24893648	missense	probably damaging	1.00
R4886:Med23	UTSW	10	24874683	critical splice donor site	probably null
R4925:Med23	UTSW	10	24910747	missense	probably damaging	1.00
R4943:Med23	UTSW	10	24875669	missense	possibly damaging	0.92
R5207:Med23	UTSW	10	24895836	nonsense	probably null
R5749:Med23	UTSW	10	24888449	missense	possibly damaging	0.84
R5806:Med23	UTSW	10	24907221	missense	probably damaging	1.00
R5896:Med23	UTSW	10	24902145	missense	probably damaging	1.00
R5954:Med23	UTSW	10	24870483	splice site	probably benign
R6031:Med23	UTSW	10	24903748	nonsense	probably null
R6031:Med23	UTSW	10	24903748	nonsense	probably null
R6093:Med23	UTSW	10	24878443	missense	probably benign	0.16
R6107:Med23	UTSW	10	24906034	nonsense	probably null
R6356:Med23	UTSW	10	24888413	missense	probably damaging	0.98
R6393:Med23	UTSW	10	24873476	missense	possibly damaging	0.91
R6533:Med23	UTSW	10	24893620	missense	probably damaging	1.00
R6911:Med23	UTSW	10	24902181	missense	probably damaging	0.98
R6981:Med23	UTSW	10	24895824	missense	possibly damaging	0.92
R7085:Med23	UTSW	10	24870121	missense	probably damaging	1.00
R7215:Med23	UTSW	10	24888429	missense	probably benign
R7229:Med23	UTSW	10	24902004	missense	probably benign
R7489:Med23	UTSW	10	24904356	missense	probably damaging	1.00
R7530:Med23	UTSW	10	24905953	missense	probably benign	0.00
R7643:Med23	UTSW	10	24905965	missense	probably benign	0.01
R7653:Med23	UTSW	10	24904384	missense	probably damaging	1.00
R7764:Med23	UTSW	10	24909920	critical splice donor site	probably null
R7784:Med23	UTSW	10	24902448	missense	probably damaging	1.00
R8024:Med23	UTSW	10	24879683	missense	possibly damaging	0.74
R8182:Med23	UTSW	10	24912807	missense	probably benign
R8412:Med23	UTSW	10	24908734	missense	probably benign	0.01
R8874:Med23	UTSW	10	24895719	missense	possibly damaging	0.92
RF003:Med23	UTSW	10	24903785	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGGAAAGCCGTTTTAATCTG -3'
(R):5'- TTCCACACCATGTCGTTGAG -3'

Sequencing Primer
(F):5'- GCCGTTTTAATCTGAAGAAGAATGTG -3'
(R):5'- TCCTGCTGACGTAGAGAACTC -3'

Posted On

2015-03-25