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

ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno

MMRRC Submission

040020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24745889-24789358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24755653 bp (GRCm39)

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
Abhd6	A	T	14: 8,042,742 (GRCm38)	T100S	probably benign	Het
Adam6a	T	C	12: 113,508,998 (GRCm39)	I457T	probably benign	Het
Aff3	T	C	1: 38,246,996 (GRCm39)	N863S	probably benign	Het
Agk	C	A	6: 40,353,168 (GRCm39)	D177E	probably benign	Het
Alg9	C	T	9: 50,699,500 (GRCm39)	A209V	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Bpi	A	T	2: 158,103,272 (GRCm39)	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Cblc	T	A	7: 19,518,747 (GRCm39)	D452V	probably benign	Het
Ccar1	T	C	10: 62,612,473 (GRCm39)	T231A	probably benign	Het
Ccdc112	A	G	18: 46,420,499 (GRCm39)	L417P	probably damaging	Het
Ccdc34	G	A	2: 109,874,649 (GRCm39)	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,844,829 (GRCm39)	S305P	probably benign	Het
Clip2	T	C	5: 134,531,969 (GRCm39)	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360 (GRCm39)	T692A	probably benign	Het
Copg2	A	T	6: 30,793,676 (GRCm39)		probably null	Het
Ctnna2	T	A	6: 76,950,774 (GRCm39)	I566F	possibly damaging	Het
Cux2	C	T	5: 121,999,389 (GRCm39)	D1184N	probably benign	Het
Dclk3	A	G	9: 111,297,422 (GRCm39)	E322G	probably benign	Het
Ddx41	A	T	13: 55,681,906 (GRCm39)		probably null	Het
Dnaaf2	G	A	12: 69,243,559 (GRCm39)	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,261,428 (GRCm39)	E578G	probably damaging	Het
Exd1	A	G	2: 119,359,144 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,173,583 (GRCm39)	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,858,214 (GRCm39)	T741A	probably benign	Het
Fgr	C	A	4: 132,724,832 (GRCm39)	A311E	probably damaging	Het
Fmo4	T	C	1: 162,626,458 (GRCm39)	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006 (GRCm39)	V235A	probably benign	Het
Gm1110	T	A	9: 26,805,554 (GRCm39)	H366L	probably benign	Het
Gm43302	T	C	5: 105,438,846 (GRCm39)	N14S	probably damaging	Het
Gm5422	A	G	10: 31,124,764 (GRCm39)		noncoding transcript	Het
Gm57858	A	T	3: 36,064,827 (GRCm39)	C515*	probably null	Het
Gpr21	A	G	2: 37,407,547 (GRCm39)	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,646,207 (GRCm39)	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,553,085 (GRCm39)	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,883,598 (GRCm39)	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,723 (GRCm39)	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,735,169 (GRCm39)	S87P	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Iqca1	T	C	1: 89,973,348 (GRCm39)	N808S	probably benign	Het
Kcnu1	A	G	8: 26,408,470 (GRCm39)	I94V	probably benign	Het
Lrba	A	T	3: 86,217,324 (GRCm39)	E517V	probably damaging	Het
Mcidas	A	G	13: 113,130,515 (GRCm39)	E37G	possibly damaging	Het
Micu2	T	C	14: 58,191,590 (GRCm39)		probably null	Het
Mrgprx2	A	T	7: 48,132,282 (GRCm39)	C179S	probably damaging	Het
Myo6	A	G	9: 80,215,004 (GRCm39)	T1236A	probably damaging	Het
Myo7a	A	T	7: 97,703,915 (GRCm39)	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122 (GRCm38)	Y695F	probably damaging	Het
Nr3c2	A	T	8: 77,636,422 (GRCm39)	I508F	possibly damaging	Het
Or11g27	T	C	14: 50,771,141 (GRCm39)	S91P	probably damaging	Het
Or14a260	A	T	7: 85,984,955 (GRCm39)	Y216*	probably null	Het
Or2ag13	T	C	7: 106,472,634 (GRCm39)	I273V	probably benign	Het
Or5w1b	A	T	2: 87,476,233 (GRCm39)	I78N	probably damaging	Het
Or8k23	A	T	2: 86,186,530 (GRCm39)	H65Q	possibly damaging	Het
Or9s13	T	C	1: 92,548,471 (GRCm39)	V281A	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
P2ry10	A	C	X: 106,146,241 (GRCm39)	I59L	probably damaging	Het
Parp11	A	G	6: 127,454,854 (GRCm39)	N124S	probably benign	Het
Pcdh7	T	A	5: 57,876,971 (GRCm39)	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phc2	T	A	4: 128,617,378 (GRCm39)	V468E	probably benign	Het
Piezo2	T	C	18: 63,192,815 (GRCm39)	T1605A	probably damaging	Het
Pik3cb	A	T	9: 98,987,632 (GRCm39)	Y35*	probably null	Het
Piwil2	A	T	14: 70,664,083 (GRCm39)	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889 (GRCm39)	F101L	probably damaging	Het
Pomt2	A	G	12: 87,158,173 (GRCm39)	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,465,700 (GRCm39)		probably null	Het
Prkag2	C	T	5: 25,076,052 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,641,542 (GRCm39)	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,499,352 (GRCm39)	G45D	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rlig1	T	G	10: 100,419,820 (GRCm39)	D58A	probably damaging	Het
Rtcb	A	T	10: 85,777,797 (GRCm39)	I459N	probably damaging	Het
Rtp3	A	T	9: 110,815,102 (GRCm39)		probably benign	Het
Rundc3b	T	A	5: 8,562,409 (GRCm39)		probably null	Het
Scube3	A	G	17: 28,387,132 (GRCm39)	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,799,394 (GRCm39)	Q421L	probably benign	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,500,833 (GRCm39)	F437L	probably benign	Het
Slco3a1	G	A	7: 73,996,419 (GRCm39)	A329V	probably benign	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spen	A	T	4: 141,200,640 (GRCm39)	N2662K	probably damaging	Het
Sptb	G	C	12: 76,679,246 (GRCm39)	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,644 (GRCm39)	S136P	probably damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,979,971 (GRCm39)		probably null	Het
Tchh	G	A	3: 93,354,268 (GRCm39)	R1236Q	unknown	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,132,966 (GRCm39)	R80H	probably benign	Het
Tpgs1	T	C	10: 79,511,722 (GRCm39)	L288P	probably damaging	Het
Trhde	T	C	10: 114,334,698 (GRCm39)	I659V	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Ttc5	C	A	14: 51,019,007 (GRCm39)	E37*	probably null	Het
Uvrag	A	G	7: 98,589,096 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,283 (GRCm39)	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,604,287 (GRCm39)	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,770,869 (GRCm39)	Y32*	probably null	Het
Wrn	A	G	8: 33,726,432 (GRCm39)	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,746,527 (GRCm39)	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,367,217 (GRCm39)	Q480*	probably null	Het
Zfp456	G	A	13: 67,514,993 (GRCm39)	Q238*	probably null	Het
Zranb3	T	A	1: 128,019,638 (GRCm39)	T35S	probably benign	Het

Other mutations in Med23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Med23	APN	10	24,764,482 (GRCm39)	missense	probably damaging	1.00
IGL00792:Med23	APN	10	24,752,902 (GRCm39)	missense	possibly damaging	0.93
IGL01289:Med23	APN	10	24,778,019 (GRCm39)	missense	probably damaging	1.00
IGL01469:Med23	APN	10	24,758,495 (GRCm39)	missense	probably damaging	1.00
IGL01598:Med23	APN	10	24,779,696 (GRCm39)	missense	probably benign	0.34
IGL02324:Med23	APN	10	24,773,239 (GRCm39)	missense	probably damaging	0.98
IGL02381:Med23	APN	10	24,776,626 (GRCm39)	missense	possibly damaging	0.95
IGL02465:Med23	APN	10	24,779,641 (GRCm39)	missense	probably damaging	0.96
IGL02554:Med23	APN	10	24,774,473 (GRCm39)	critical splice donor site	probably null
IGL02683:Med23	APN	10	24,746,615 (GRCm39)	missense	probably benign	0.00
PIT4362001:Med23	UTSW	10	24,750,469 (GRCm39)	missense	probably benign	0.01
R0080:Med23	UTSW	10	24,788,715 (GRCm39)	missense	probably benign	0.33
R0125:Med23	UTSW	10	24,776,686 (GRCm39)	missense	probably damaging	1.00
R0311:Med23	UTSW	10	24,773,256 (GRCm39)	missense	possibly damaging	0.95
R0765:Med23	UTSW	10	24,776,608 (GRCm39)	missense	probably damaging	1.00
R1302:Med23	UTSW	10	24,764,320 (GRCm39)	splice site	probably null
R1456:Med23	UTSW	10	24,779,550 (GRCm39)	splice site	probably benign
R1514:Med23	UTSW	10	24,768,565 (GRCm39)	splice site	probably benign
R1774:Med23	UTSW	10	24,779,584 (GRCm39)	missense	probably damaging	1.00
R1851:Med23	UTSW	10	24,786,768 (GRCm39)	splice site	probably null
R1928:Med23	UTSW	10	24,785,710 (GRCm39)	missense	probably benign
R1975:Med23	UTSW	10	24,786,664 (GRCm39)	missense	probably benign	0.01
R2266:Med23	UTSW	10	24,750,499 (GRCm39)	missense	probably benign	0.00
R2309:Med23	UTSW	10	24,746,586 (GRCm39)	missense	probably damaging	0.99
R2507:Med23	UTSW	10	24,786,711 (GRCm39)	missense	probably damaging	1.00
R2566:Med23	UTSW	10	24,764,473 (GRCm39)	missense	probably damaging	1.00
R3720:Med23	UTSW	10	24,767,018 (GRCm39)	missense	probably damaging	1.00
R3771:Med23	UTSW	10	24,778,099 (GRCm39)	missense	probably damaging	1.00
R3811:Med23	UTSW	10	24,768,491 (GRCm39)	splice site	probably null
R3811:Med23	UTSW	10	24,768,490 (GRCm39)	nonsense	probably null
R4305:Med23	UTSW	10	24,780,168 (GRCm39)	nonsense	probably null
R4323:Med23	UTSW	10	24,746,603 (GRCm39)	missense	probably benign	0.02
R4701:Med23	UTSW	10	24,769,546 (GRCm39)	missense	probably damaging	1.00
R4886:Med23	UTSW	10	24,750,581 (GRCm39)	critical splice donor site	probably null
R4925:Med23	UTSW	10	24,786,645 (GRCm39)	missense	probably damaging	1.00
R4943:Med23	UTSW	10	24,751,567 (GRCm39)	missense	possibly damaging	0.92
R5207:Med23	UTSW	10	24,771,734 (GRCm39)	nonsense	probably null
R5749:Med23	UTSW	10	24,764,347 (GRCm39)	missense	possibly damaging	0.84
R5806:Med23	UTSW	10	24,783,119 (GRCm39)	missense	probably damaging	1.00
R5896:Med23	UTSW	10	24,778,043 (GRCm39)	missense	probably damaging	1.00
R5954:Med23	UTSW	10	24,746,381 (GRCm39)	splice site	probably benign
R6031:Med23	UTSW	10	24,779,646 (GRCm39)	nonsense	probably null
R6031:Med23	UTSW	10	24,779,646 (GRCm39)	nonsense	probably null
R6093:Med23	UTSW	10	24,754,341 (GRCm39)	missense	probably benign	0.16
R6107:Med23	UTSW	10	24,781,932 (GRCm39)	nonsense	probably null
R6356:Med23	UTSW	10	24,764,311 (GRCm39)	missense	probably damaging	0.98
R6393:Med23	UTSW	10	24,749,374 (GRCm39)	missense	possibly damaging	0.91
R6533:Med23	UTSW	10	24,769,518 (GRCm39)	missense	probably damaging	1.00
R6911:Med23	UTSW	10	24,778,079 (GRCm39)	missense	probably damaging	0.98
R6981:Med23	UTSW	10	24,771,722 (GRCm39)	missense	possibly damaging	0.92
R7085:Med23	UTSW	10	24,746,019 (GRCm39)	missense	probably damaging	1.00
R7215:Med23	UTSW	10	24,764,327 (GRCm39)	missense	probably benign
R7229:Med23	UTSW	10	24,777,902 (GRCm39)	missense	probably benign
R7489:Med23	UTSW	10	24,780,254 (GRCm39)	missense	probably damaging	1.00
R7530:Med23	UTSW	10	24,781,851 (GRCm39)	missense	probably benign	0.00
R7643:Med23	UTSW	10	24,781,863 (GRCm39)	missense	probably benign	0.01
R7653:Med23	UTSW	10	24,780,282 (GRCm39)	missense	probably damaging	1.00
R7764:Med23	UTSW	10	24,785,818 (GRCm39)	critical splice donor site	probably null
R7784:Med23	UTSW	10	24,778,346 (GRCm39)	missense	probably damaging	1.00
R8024:Med23	UTSW	10	24,755,581 (GRCm39)	missense	possibly damaging	0.74
R8182:Med23	UTSW	10	24,788,705 (GRCm39)	missense	probably benign
R8412:Med23	UTSW	10	24,784,632 (GRCm39)	missense	probably benign	0.01
R8874:Med23	UTSW	10	24,771,617 (GRCm39)	missense	possibly damaging	0.92
R8975:Med23	UTSW	10	24,780,334 (GRCm39)	missense	probably benign	0.42
R9131:Med23	UTSW	10	24,780,279 (GRCm39)	missense
R9202:Med23	UTSW	10	24,780,202 (GRCm39)	missense	probably benign	0.12
R9341:Med23	UTSW	10	24,788,705 (GRCm39)	missense	probably benign
R9342:Med23	UTSW	10	24,750,469 (GRCm39)	missense	probably benign	0.01
R9343:Med23	UTSW	10	24,788,705 (GRCm39)	missense	probably benign
R9412:Med23	UTSW	10	24,778,019 (GRCm39)	missense	probably damaging	1.00
RF003:Med23	UTSW	10	24,779,683 (GRCm39)	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