Mutagenetix > Incidental Mutations

Incidental Mutation 'R1774:Med23'

196940

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

MMRRC Submission

039805-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24903686 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 887 (E887G)

Ref Sequence

ENSEMBL: ENSMUSP00000090316 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020159
AA Change: E881G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: E881G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092646
AA Change: E887G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: E887G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176285
AA Change: E521G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: E521G

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

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 145,045,541	V312A	probably damaging	Het
2810408A11Rik	A	G	11: 69,900,627	V42A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Angpt1	T	A	15: 42,523,616	Q114L	probably damaging	Het
Apc2	T	C	10: 80,309,130	I625T	probably damaging	Het
Atg2a	T	C	19: 6,250,598	V735A	probably benign	Het
Birc6	T	A	17: 74,640,013	I2909N	probably damaging	Het
C7	C	G	15: 5,012,075	D450H	probably damaging	Het
Cachd1	C	T	4: 100,964,435	T403I	probably damaging	Het
Cachd1	T	A	4: 100,967,043	F560L	probably benign	Het
Cacna2d2	A	T	9: 107,526,151	Y944F	probably benign	Het
Cdkal1	C	T	13: 29,850,048	D21N	probably damaging	Het
Col18a1	T	C	10: 77,059,981	R901G	probably damaging	Het
Col27a1	C	T	4: 63,225,713	P546L	probably damaging	Het
Cps1	C	T	1: 67,170,882	R624W	possibly damaging	Het
Cyp11a1	A	T	9: 58,018,360	I93F	probably benign	Het
Cyp2c40	G	C	19: 39,786,806	T334R	probably damaging	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
D630003M21Rik	A	T	2: 158,220,470	D43E	probably damaging	Het
Ep400	C	A	5: 110,685,491	C1955F	unknown	Het
Ethe1	G	A	7: 24,593,946	V6I	probably benign	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fasn	T	C	11: 120,817,171	Y685C	probably damaging	Het
Gga2	T	G	7: 122,012,221	D38A	probably damaging	Het
Gm12794	G	A	4: 101,940,458	V18M	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm43302	T	A	5: 105,275,794	I438F	probably benign	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Hic2	G	T	16: 17,258,647	V447L	probably damaging	Het
Hsf2	G	A	10: 57,512,146	C462Y	probably damaging	Het
Ice1	T	C	13: 70,604,553	D1138G	probably damaging	Het
Il6	A	G	5: 30,019,435	T158A	probably benign	Het
Inpp5d	T	A	1: 87,667,889	V120E	probably benign	Het
Iqca	T	C	1: 90,080,903	N456S	probably benign	Het
Itgal	T	A	7: 127,309,622		probably null	Het
Lrrc66	G	C	5: 73,610,855	Q248E	probably benign	Het
Lrrc7	T	A	3: 158,160,292	M1271L	possibly damaging	Het
Lrrc74a	T	C	12: 86,749,053	S267P	probably damaging	Het
Map2	T	C	1: 66,414,074	S550P	probably damaging	Het
Mapk8ip3	A	T	17: 24,924,145		probably null	Het
Mdm4	A	C	1: 132,996,646	S246A	probably damaging	Het
Mgea5	T	C	19: 45,776,984	E128G	probably benign	Het
Mta1	C	T	12: 113,128,039	A254V	probably damaging	Het
Myh2	A	G	11: 67,173,474	Y85C	possibly damaging	Het
Myo1g	A	G	11: 6,515,988	Y366H	probably damaging	Het
Nalcn	G	A	14: 123,278,266	P1708S	probably benign	Het
Nlrp9c	A	T	7: 26,394,118	S41T	probably benign	Het
Nptx2	T	A	5: 144,553,438	S226T	possibly damaging	Het
Nup85	T	A	11: 115,582,945	S562T	probably benign	Het
Nxpe5	T	C	5: 138,239,535	V107A	probably benign	Het
Olfr129	A	G	17: 38,055,437	V43A	probably benign	Het
Olfr273	T	A	4: 52,855,674	I280F	probably benign	Het
Olfr414	A	G	1: 174,431,339	T304A	probably benign	Het
Olfr455	A	T	6: 42,538,519	F168I	probably damaging	Het
Pcdhb12	C	T	18: 37,436,442	P214S	possibly damaging	Het
Pcdhb5	T	A	18: 37,322,672	F702I	probably damaging	Het
Pcnx	T	C	12: 81,975,320	F1475S	probably damaging	Het
Pde5a	C	A	3: 122,729,364	T40N	probably benign	Het
Pnpla2	T	A	7: 141,459,568	V398E	probably damaging	Het
Rab20	T	C	8: 11,454,223	K159R	probably benign	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs12	T	A	5: 34,966,403	V510D	probably benign	Het
Rnf219	A	G	14: 104,479,662	V425A	possibly damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc27a5	A	T	7: 12,997,607	C23*	probably null	Het
Slc35e2	T	C	4: 155,610,164	V56A	possibly damaging	Het
Slx4ip	T	C	2: 137,067,723	S143P	probably damaging	Het
Stat5a	C	T	11: 100,879,286	S463F	probably damaging	Het
Svep1	T	C	4: 58,146,562	D360G	possibly damaging	Het
Tas2r143	A	T	6: 42,400,371	D45V	probably damaging	Het
Tdrd5	G	T	1: 156,277,509	R516S	probably damaging	Het
Thy1	A	G	9: 44,047,339	D126G	probably benign	Het
Tspear	C	T	10: 77,873,185	T415I	probably benign	Het
Ttll5	C	A	12: 85,933,402	T920K	probably benign	Het
Umod	T	C	7: 119,477,351	E64G	possibly damaging	Het
Usf3	A	G	16: 44,215,670	N171S	probably damaging	Het
Vmn1r23	T	A	6: 57,926,690	R34S	probably damaging	Het
Wasf1	C	G	10: 40,934,479	P239R	possibly damaging	Het
Wdr95	C	T	5: 149,564,392	R164*	probably null	Het
Zan	C	A	5: 137,419,989	C2949F	unknown	Het
Zbed4	T	C	15: 88,780,877	S383P	probably benign	Het
Zcchc11	T	C	4: 108,507,955	F542L	probably damaging	Het
Zfand5	T	A	19: 21,276,531	C33S	probably damaging	Het
Zfp12	A	G	5: 143,245,229	Y437C	probably damaging	Het
Zfp451	A	C	1: 33,813,768	S22A	probably benign	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
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
R3771:Med23	UTSW	10	24902201	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'- TTCCTAGCAGGAGGAGTAGTGAACC -3'
(R):5'- TCAGAATCATGCCGACTTGAAGTACAG -3'

Sequencing Primer
(F):5'- TAGTGAACCACAAATAGGCCAAAAG -3'
(R):5'- AGCTAACTCGCTGTGGGTC -3'

Posted On

2014-05-23