Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Med23'

457528

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

MMRRC Submission

044095-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24902145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 797 (L797P)

Ref Sequence

ENSEMBL: ENSMUSP00000090316 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020159
AA Change: L791P

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

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: L791P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092646
AA Change: L797P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: L797P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176285
AA Change: L431P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: L431P

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

0.9012

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,707,433	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,452,830	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,661,675	Q778*	probably null	Het
Abhd16a	T	A	17: 35,091,725		probably benign	Het
Acp6	A	G	3: 97,168,494	K226R	probably benign	Het
Ankfy1	A	G	11: 72,759,985	D998G	probably damaging	Het
Apbb1	G	T	7: 105,574,225	P60T	probably damaging	Het
Apol9a	T	A	15: 77,404,505	I221F	probably benign	Het
Arhgap29	A	G	3: 122,012,087	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,387,398		probably benign	Het
BC003331	A	T	1: 150,380,360	N211K	probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,503,999		probably null	Het
Ccdc69	C	T	11: 55,052,890		probably null	Het
Ccdc93	G	T	1: 121,463,120	V274L	possibly damaging	Het
Cdc25a	A	G	9: 109,884,365	D191G	probably benign	Het
Cmya5	A	G	13: 93,045,865		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,443,271		probably benign	Het
Csde1	T	C	3: 103,040,543		probably benign	Het
Ctdp1	A	G	18: 80,458,788	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,060	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,493,596	N604K	probably damaging	Het
Fam166a	A	T	2: 25,220,566	M129L	probably benign	Het
Fig4	T	A	10: 41,254,885	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,565,298	S124F	probably damaging	Het
Gli3	G	A	13: 15,726,180	R1384K	probably benign	Het
Gm11127	T	A	17: 36,056,344	M329L	probably benign	Het
Gm12258	G	A	11: 58,859,631	C544Y	probably damaging	Het
Grm1	C	T	10: 11,080,550		probably benign	Het
Hps4	C	T	5: 112,369,485	T246I	probably benign	Het
Ifngr2	A	T	16: 91,561,765	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,563,966	T148A	probably benign	Het
Irx3	T	C	8: 91,801,135	S36G	probably benign	Het
Itga5	T	A	15: 103,351,087	K667N	probably benign	Het
Itgad	G	A	7: 128,174,016	C15Y	probably benign	Het
Ly75	T	G	2: 60,383,146	E29A	probably benign	Het
Magi1	T	A	6: 93,708,199	S506C	probably damaging	Het
Map4	G	A	9: 110,072,634	V781M	possibly damaging	Het
Naip1	C	T	13: 100,423,128	G1123R	probably benign	Het
Ncor1	G	T	11: 62,383,190	P55Q	probably damaging	Het
Ofcc1	T	A	13: 40,180,584	I344F	probably benign	Het
Olfr1161	A	G	2: 88,025,121	Y133C	probably damaging	Het
Olfr1247	C	A	2: 89,609,323	V260F	probably damaging	Het
Olfr173	G	A	16: 58,797,732	T38I	probably damaging	Het
Olfr984	A	T	9: 40,100,893	M199K	probably damaging	Het
Otub2	C	T	12: 103,403,428		probably benign	Het
Parva	A	G	7: 112,544,753	M83V	probably benign	Het
Pcdha8	T	A	18: 36,993,519	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,322,679	L704*	probably null	Het
Pkd1l3	T	A	8: 109,626,836	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,223,874	R288H	probably benign	Het
Polr2a	A	T	11: 69,736,260	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,765,981	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,674,278	T498S	probably benign	Het
Pus7l	C	T	15: 94,529,451		probably null	Het
Rptn	C	T	3: 93,398,332	Q991*	probably null	Het
Rsu1	T	G	2: 13,224,359	E76A	probably damaging	Het
Sept11	T	A	5: 93,156,965	F214I	probably damaging	Het
Slc1a7	G	T	4: 108,012,390	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,855	Y13*	probably null	Het
Slc7a14	T	G	3: 31,257,570	L100F	probably damaging	Het
Slit3	A	G	11: 35,708,105	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,877,057	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 126,452,928	F624L	probably benign	Het
Tfeb	T	G	17: 47,759,508		probably null	Het
Tnxb	G	A	17: 34,672,152	G490R	probably damaging	Het
Tra2b	T	C	16: 22,259,203	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,622,647		probably benign	Het
Uvrag	A	T	7: 98,988,207	L138*	probably null	Het
Vwf	A	T	6: 125,678,762		probably null	Het
Wdr47	G	A	3: 108,619,006	D282N	probably damaging	Het
Xirp2	A	G	2: 67,508,698	M428V	probably benign	Het
Xirp2	A	G	2: 67,509,946	N844D	possibly damaging	Het
Znfx1	G	A	2: 167,039,000	T288I	probably damaging	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
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
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'- AAGTTCCTCGCCTCCGATTG -3'
(R):5'- AATGTTCTCACATGGGCCACC -3'

Sequencing Primer
(F):5'- TCTGTATCCAGTGACATGAACTTCG -3'
(R):5'- ACTGCCAAGCAGACTGAA -3'

Posted On

2017-02-15