Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02465:Med23'

294556

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02465

Quality Score

Status

Chromosome

Chromosomal Location

24745889-24789358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24779641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 906 (R906K)

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 benign
Transcript: ENSMUST00000020159
AA Change: R900K

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: R900K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092646
AA Change: R906K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: R906K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176285
AA Change: R540K

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: R540K

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,250,906 (GRCm39)	D555G	probably benign	Het
Anks1b	T	A	10: 89,999,127 (GRCm39)	C411*	probably null	Het
Atp5pf	A	T	16: 84,625,358 (GRCm39)	Y82N	probably damaging	Het
Cd19	A	T	7: 126,012,730 (GRCm39)	V221D	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyp4f13	A	T	17: 33,148,110 (GRCm39)		probably null	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Eya2	A	G	2: 165,557,872 (GRCm39)	D156G	possibly damaging	Het
Gm42763	T	C	9: 110,374,365 (GRCm39)		probably benign	Het
Gtdc1	T	C	2: 44,460,435 (GRCm39)	Y417C	probably damaging	Het
Map1b	T	C	13: 99,569,914 (GRCm39)	T936A	unknown	Het
Mill2	G	A	7: 18,592,168 (GRCm39)	W263*	probably null	Het
Mup20	T	C	4: 61,970,237 (GRCm39)	N107D	possibly damaging	Het
Neb	A	G	2: 52,083,177 (GRCm39)		probably benign	Het
Ntrk2	A	G	13: 59,208,194 (GRCm39)	N680S	probably damaging	Het
Or12d2	A	C	17: 37,624,802 (GRCm39)	S158A	probably damaging	Het
Or9a2	C	T	6: 41,748,490 (GRCm39)	V248I	probably damaging	Het
Pde3a	A	G	6: 141,195,401 (GRCm39)	H29R	possibly damaging	Het
Pik3c3	T	C	18: 30,477,113 (GRCm39)	I878T	probably damaging	Het
Plxnd1	A	G	6: 115,932,703 (GRCm39)	*1926R	probably null	Het
Prl8a9	T	A	13: 27,743,432 (GRCm39)	L124F	probably damaging	Het
Proser3	A	T	7: 30,242,958 (GRCm39)	N206K	possibly damaging	Het
Rasef	G	T	4: 73,652,725 (GRCm39)	T439N	probably damaging	Het
Slc6a18	T	C	13: 73,825,904 (GRCm39)	T49A	probably benign	Het
Spag17	A	C	3: 99,983,187 (GRCm39)	T1496P	probably damaging	Het
Vmn1r63	A	C	7: 5,806,038 (GRCm39)	V198G	probably damaging	Het
Vmn2r112	T	C	17: 22,833,975 (GRCm39)	S548P	probably damaging	Het
Vps13a	T	C	19: 16,688,305 (GRCm39)	D834G	probably benign	Het
Vps8	A	T	16: 21,340,653 (GRCm39)	N799I	probably damaging	Het
Zfhx4	A	G	3: 5,464,663 (GRCm39)	H1632R	possibly damaging	Het
Zp1	T	A	19: 10,897,851 (GRCm39)	E30V	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
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
R2011:Med23	UTSW	10	24,755,653 (GRCm39)	missense	possibly damaging	0.63
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

Posted On

2015-04-16