Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01598:Med23'

91751

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 #

IGL01598

Quality Score

Status

Chromosome

Chromosomal Location

24745889-24789358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24779696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 924 (S924R)

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: S918R

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

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: S918R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092646
AA Change: S924R

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: S924R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176285
AA Change: S558R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: S558R

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
2410124H12Rik	T	A	16: 92,275,817 (GRCm39)		noncoding transcript	Het
Apc2	T	A	10: 80,148,882 (GRCm39)	L1283Q	probably damaging	Het
Apol6	G	A	15: 76,934,916 (GRCm39)	A62T	probably damaging	Het
AU018091	A	T	7: 3,212,110 (GRCm39)	I204N	possibly damaging	Het
B4galnt4	G	T	7: 140,650,428 (GRCm39)	R765L	probably benign	Het
Brca1	T	C	11: 101,415,156 (GRCm39)	T993A	probably benign	Het
Cadps	C	T	14: 12,522,202 (GRCm38)		probably null	Het
Ccdc177	A	G	12: 80,805,519 (GRCm39)	S252P	unknown	Het
Cdc73	A	G	1: 143,575,017 (GRCm39)	S59P	probably damaging	Het
Cep63	G	T	9: 102,467,657 (GRCm39)	Q570K	possibly damaging	Het
Ces1c	A	T	8: 93,845,041 (GRCm39)	I120K	probably benign	Het
Cpeb1	T	C	7: 81,011,549 (GRCm39)	M131V	probably benign	Het
Dync1h1	G	A	12: 110,624,562 (GRCm39)	V3701I	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gldc	A	T	19: 30,111,156 (GRCm39)	V540D	probably damaging	Het
Iqcf6	A	G	9: 106,504,707 (GRCm39)	T124A	probably benign	Het
Itih4	A	G	14: 30,609,774 (GRCm39)	I35V	possibly damaging	Het
Kmt2c	T	C	5: 25,478,664 (GRCm39)	*1525W	probably null	Het
Kmt2c	A	T	5: 25,559,769 (GRCm39)	V963E	probably damaging	Het
Lmnb2	T	C	10: 80,742,999 (GRCm39)	S202G	probably benign	Het
Or5b102	T	C	19: 13,041,513 (GRCm39)	V246A	probably damaging	Het
Pcif1	T	C	2: 164,728,531 (GRCm39)	F263L	possibly damaging	Het
Pon2	A	T	6: 5,272,331 (GRCm39)	L163H	probably damaging	Het
Scn1a	C	T	2: 66,132,829 (GRCm39)	V165M	possibly damaging	Het
Sema6d	C	A	2: 124,507,018 (GRCm39)	P961Q	probably damaging	Het
Snx27	A	G	3: 94,469,150 (GRCm39)	Y64H	probably damaging	Het
Srsf11	C	T	3: 157,717,672 (GRCm39)		probably benign	Het
Taok1	A	G	11: 77,462,510 (GRCm39)	V193A	probably damaging	Het
Tut4	A	G	4: 108,408,017 (GRCm39)		probably benign	Het
Vps13d	T	C	4: 144,743,471 (GRCm39)	T4137A	probably benign	Het
Zbtb26	T	C	2: 37,326,283 (GRCm39)	Y251C	probably damaging	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
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
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

2013-12-09