Mutagenetix > Incidental Mutation

Incidental Mutation 'R2011:Med23'

219732

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

MMRRC Submission

040020-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24879755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 83 (F83L)

Ref Sequence

ENSEMBL: ENSMUSP00000134836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176313] [ENSMUST00000176502] [ENSMUST00000177232]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020159
AA Change: F253L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: F253L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092646
AA Change: F253L

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: F253L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176313

SMART Domains

Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984

Domain	Start	End	E-Value	Type
Pfam:Med23	1	197	1.7e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176502
AA Change: F83L

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
AA Change: F83L

Domain	Start	End	E-Value	Type
Pfam:Med23	1	95	8.7e-36	PFAM
Pfam:Med23	92	234	3.8e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177175

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177522

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	G	10: 100,583,958	D58A	probably damaging	Het
Abhd6	A	T	14: 8,042,742	T100S	probably benign	Het
Adam6a	T	C	12: 113,545,378	I457T	probably benign	Het
Aff3	T	C	1: 38,207,915	N863S	probably benign	Het
Agk	C	A	6: 40,376,234	D177E	probably benign	Het
Alg9	C	T	9: 50,788,200	A209V	probably damaging	Het
Arl6	A	T	16: 59,624,313	I51K	probably damaging	Het
Bpi	A	T	2: 158,261,352	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,448,284	F260Y	probably benign	Het
Cblc	T	A	7: 19,784,822	D452V	probably benign	Het
Ccar1	T	C	10: 62,776,694	T231A	probably benign	Het
Ccdc112	A	G	18: 46,287,432	L417P	probably damaging	Het
Ccdc144b	A	T	3: 36,010,678	C515*	probably null	Het
Ccdc34	G	A	2: 110,044,304	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,951,036	S305P	probably benign	Het
Clip2	T	C	5: 134,503,115	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360	T692A	probably benign	Het
Copg2	A	T	6: 30,816,741		probably null	Het
Ctnna2	T	A	6: 76,973,791	I566F	possibly damaging	Het
Cux2	C	T	5: 121,861,326	D1184N	probably benign	Het
Dclk3	A	G	9: 111,468,354	E322G	probably benign	Het
Ddx41	A	T	13: 55,534,093		probably null	Het
Dnaaf2	G	A	12: 69,196,785	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,430,947	E578G	probably damaging	Het
Exd1	A	G	2: 119,528,663		probably benign	Het
Fat2	G	A	11: 55,282,757	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,872,459	T741A	probably benign	Het
Fgr	C	A	4: 132,997,521	A311E	probably damaging	Het
Fmo4	T	C	1: 162,798,889	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006	V235A	probably benign	Het
Gm1110	T	A	9: 26,894,258	H366L	probably benign	Het
Gm43302	T	C	5: 105,290,980	N14S	probably damaging	Het
Gm5422	A	G	10: 31,248,768		noncoding transcript	Het
Gpr21	A	G	2: 37,517,535	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,408,758	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,677,334	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,664,624	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,724	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,907,603	S87P	probably damaging	Het
Il17rb	A	T	14: 29,996,840	C428*	probably null	Het
Iqca	T	C	1: 90,045,626	N808S	probably benign	Het
Kcnu1	A	G	8: 25,918,442	I94V	probably benign	Het
Lrba	A	T	3: 86,310,017	E517V	probably damaging	Het
Mcidas	A	G	13: 112,993,981	E37G	possibly damaging	Het
Micu2	T	C	14: 57,954,133		probably null	Het
Mrgprx2	A	T	7: 48,482,534	C179S	probably damaging	Het
Myo6	A	G	9: 80,307,722	T1236A	probably damaging	Het
Myo7a	A	T	7: 98,054,708	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122	Y695F	probably damaging	Het
Nr3c2	A	T	8: 76,909,793	I508F	possibly damaging	Het
Olfr1056	A	T	2: 86,356,186	H65Q	possibly damaging	Het
Olfr1133	A	T	2: 87,645,889	I78N	probably damaging	Het
Olfr12	T	C	1: 92,620,749	V281A	probably benign	Het
Olfr307	A	T	7: 86,335,747	Y216*	probably null	Het
Olfr695	T	C	7: 106,873,427	I273V	probably benign	Het
Olfr743	T	C	14: 50,533,684	S91P	probably damaging	Het
Oxct1	T	C	15: 4,153,761	S485P	probably benign	Het
Oxt	A	G	2: 130,576,652	D61G	probably damaging	Het
P2ry10	A	C	X: 107,102,635	I59L	probably damaging	Het
Parp11	A	G	6: 127,477,891	N124S	probably benign	Het
Pcdh7	T	A	5: 57,719,629	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,061,494	S114R	probably benign	Het
Pfdn5	A	G	15: 102,326,521	N54S	possibly damaging	Het
Phc2	T	A	4: 128,723,585	V468E	probably benign	Het
Piezo2	T	C	18: 63,059,744	T1605A	probably damaging	Het
Pik3cb	A	T	9: 99,105,579	Y35*	probably null	Het
Piwil2	A	T	14: 70,426,634	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889	F101L	probably damaging	Het
Pomt2	A	G	12: 87,111,399	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,418,926		probably null	Het
Prkag2	C	T	5: 24,871,054		probably null	Het
Prkg1	T	C	19: 31,664,142	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,315,369	G45D	probably benign	Het
Rbm20	G	A	19: 53,859,428	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,897,097	N465K	probably benign	Het
Rtcb	A	T	10: 85,941,933	I459N	probably damaging	Het
Rtp3	A	T	9: 110,986,034		probably benign	Het
Rundc3b	T	A	5: 8,512,409		probably null	Het
Scube3	A	G	17: 28,168,158	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,346,742	Q421L	probably benign	Het
Siglec1	A	T	2: 131,083,357	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,555,107	F437L	probably benign	Het
Slco3a1	G	A	7: 74,346,671	A329V	probably benign	Het
Spag9	T	A	11: 94,092,375	L504*	probably null	Het
Spen	A	T	4: 141,473,329	N2662K	probably damaging	Het
Sptb	G	C	12: 76,632,472	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,498	S136P	probably damaging	Het
Synj1	A	T	16: 90,938,696	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,841,906		probably null	Het
Tchh	G	A	3: 93,446,961	R1236Q	unknown	Het
Timd4	C	A	11: 46,820,030	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,769,406	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,082,938	R80H	probably benign	Het
Tpgs1	T	C	10: 79,675,888	L288P	probably damaging	Het
Trhde	T	C	10: 114,498,793	I659V	probably benign	Het
Trpm7	A	T	2: 126,823,997	Y896*	probably null	Het
Ttc5	C	A	14: 50,781,550	E37*	probably null	Het
Uvrag	A	G	7: 98,939,889		probably null	Het
Vmn1r59	T	A	7: 5,454,284	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,955,079	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,894,971	Y32*	probably null	Het
Wrn	A	G	8: 33,236,404	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,780,268	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,317,218	Q480*	probably null	Het
Zfp456	G	A	13: 67,366,874	Q238*	probably null	Het
Zranb3	T	A	1: 128,091,901	T35S	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
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
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
R8975:Med23	UTSW	10	24904436	missense	probably benign	0.42
R9131:Med23	UTSW	10	24904381	missense
R9202:Med23	UTSW	10	24904304	missense	probably benign	0.12
R9341:Med23	UTSW	10	24912807	missense	probably benign
R9342:Med23	UTSW	10	24874571	missense	probably benign	0.01
R9343:Med23	UTSW	10	24912807	missense	probably benign
R9412:Med23	UTSW	10	24902121	missense	probably damaging	1.00
RF003:Med23	UTSW	10	24903785	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCATTGTAATCCAGGCAC -3'
(R):5'- GCACACACCATTTACTTCTCTAGAC -3'

Sequencing Primer
(F):5'- CACTGTAGCCCAGGCAC -3'
(R):5'- GTGACTCACAACCATCTGTAATGGG -3'

Posted On

2014-08-25