Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Med23'

549844

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

MMRRC Submission

045179-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24870121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 8 (L8Q)

Ref Sequence

ENSEMBL: ENSMUSP00000090316 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020159
AA Change: L8Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: L8Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092646
AA Change: L8Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: L8Q

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

probably damaging
Transcript: ENSMUST00000177232
AA Change: L8Q

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

SMART Domains

Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984
AA Change: L8Q

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

Meta Mutation Damage Score

0.2415

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,683,465	L878P	possibly damaging	Het
9330159F19Rik	T	C	10: 29,224,480	L283P	probably damaging	Het
Abhd18	T	C	3: 40,916,909	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,748,814	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,598,629	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,691,857	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,322,022	S4P	unknown	Het
Blzf1	T	C	1: 164,302,324	D153G	probably damaging	Het
Btaf1	T	C	19: 36,972,918	V516A	probably benign	Het
C1qa	T	C	4: 136,897,780	T20A	probably benign	Het
Cacna1e	A	T	1: 154,473,746		probably null	Het
Cfd	T	G	10: 79,892,492	V229G	probably damaging	Het
Chd3	T	A	11: 69,369,201	H64L	unknown	Het
Cntn3	A	G	6: 102,165,401	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,165,792	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,620	D355G	probably benign	Het
D130043K22Rik	T	C	13: 24,872,302	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,229,355	W428G	probably damaging	Het
Ddx49	G	A	8: 70,302,483		probably benign	Het
Dnhd1	T	A	7: 105,715,261	V4207E	probably benign	Het
Dock3	A	G	9: 106,901,887	S288P	probably damaging	Het
Drap1	G	A	19: 5,424,787		probably benign	Het
Ecm2	G	A	13: 49,520,902	R266K	probably damaging	Het
Emilin2	A	G	17: 71,274,105	L542S	probably damaging	Het
Evx1	T	C	6: 52,316,692	Y282H	possibly damaging	Het
Fam159b	G	T	13: 104,858,306	T111K	probably benign	Het
Fbxo44	T	A	4: 148,158,743	H20L	probably damaging	Het
Flot2	G	T	11: 78,058,074	A292S	possibly damaging	Het
Fry	A	G	5: 150,438,749	I2161V	probably benign	Het
Gli3	T	C	13: 15,715,062	F587S	probably damaging	Het
Gm10697	T	A	3: 94,072,632	M5L	probably benign	Het
Gm4450	T	C	3: 98,450,394	N101D	probably damaging	Het
Gm49368	A	G	7: 128,126,857	D1147G	unknown	Het
Gm6970	A	G	19: 47,170,662	V158A	unknown	Het
Gprc5b	A	T	7: 118,983,632	M338K	probably damaging	Het
Hacd3	A	C	9: 64,998,243	N204K	probably damaging	Het
Hydin	A	G	8: 110,603,330	T4899A	probably benign	Het
Ido2	T	A	8: 24,558,196	R49S	probably benign	Het
Igsf3	C	A	3: 101,455,489	T942K	probably benign	Het
Kank4	T	A	4: 98,779,946	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,986,285	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,922,113	V52A	probably benign	Het
Lmbr1	A	T	5: 29,361,092		probably null	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Mafa	G	T	15: 75,747,687	A79E	unknown	Het
Me2	A	T	18: 73,781,058	N467K	probably damaging	Het
Muc16	T	A	9: 18,644,849	I3383F	unknown	Het
Nbas	G	T	12: 13,285,258	S151I	probably damaging	Het
Olfr1130	T	A	2: 87,607,406	I6N	probably benign	Het
Olfr231	T	A	1: 174,117,660	I119F	probably damaging	Het
Olfr272	C	T	4: 52,910,961	A278T	probably benign	Het
Olfr867	G	A	9: 20,054,936	H58Y	probably benign	Het
Olfr976	C	A	9: 39,956,512	C141F	probably damaging	Het
Piezo1	A	G	8: 122,490,894	V1305A		Het
Plcb3	T	C	19: 6,960,133	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,743,880	L658P	probably damaging	Het
Prag1	A	T	8: 36,104,237	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,098,588	R269S	possibly damaging	Het
Reln	C	A	5: 21,915,087	G2856*	probably null	Het
Rsph10b	A	T	5: 143,949,284	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,265,224	I161V	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sbno1	G	A	5: 124,381,720	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,277,098	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,163,091	T13S	probably benign	Het
Slc22a22	G	A	15: 57,249,649	T398I	probably benign	Het
Slc40a1	T	A	1: 45,911,528	T255S	probably benign	Het
Smchd1	A	T	17: 71,365,219		probably null	Het
Soat1	A	T	1: 156,432,331	V480D	probably damaging	Het
Supt5	T	A	7: 28,331,489	E39V	unknown	Het
Tapbpl	T	C	6: 125,226,488		probably null	Het
Tlr11	A	T	14: 50,362,656	I700F	probably damaging	Het
Tmc3	A	T	7: 83,622,145	K864M	possibly damaging	Het
Tns1	G	A	1: 73,925,462	P81S	probably benign	Het
Tspan2	C	A	3: 102,760,954	L168I	probably benign	Het
Unc13d	C	A	11: 116,064,807	S885I	probably benign	Het
Unc45a	A	T	7: 80,326,334	M799K	possibly damaging	Het
Usp34	A	G	11: 23,363,097	D547G		Het
Vps33b	A	G	7: 80,276,089	I95V	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
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
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'- ACAGATTTCAGAGGGGCTGG -3'
(R):5'- TTTCTTAGATCTGGCAGCAGTCC -3'

Sequencing Primer
(F):5'- CTGGTAACGGGTAAGCACC -3'
(R):5'- GCAGCAGTCCGGGGATG -3'

Posted On

2019-05-15