Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01289:Med23'

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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 #

IGL01289

Quality Score

Status

Chromosome

Chromosomal Location

24745889-24789358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24778019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 789 (F789S)

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: F783S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: F783S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092646
AA Change: F789S

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

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: F789S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176285
AA Change: F423S

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

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: F423S

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

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
4933402N03Rik	T	A	7: 130,740,350 (GRCm39)	M289L	probably benign	Het
Actg2	A	T	6: 83,500,157 (GRCm39)	M38K	probably damaging	Het
Atp8a2	G	A	14: 59,928,910 (GRCm39)	A1048V	probably benign	Het
Cables1	T	C	18: 12,077,621 (GRCm39)	V583A	probably damaging	Het
Ccng2	A	G	5: 93,421,276 (GRCm39)	K262R	probably null	Het
Cfap206	C	A	4: 34,716,469 (GRCm39)	S332I	probably null	Het
Dscam	A	T	16: 96,445,082 (GRCm39)	Y1536*	probably null	Het
Fam136b-ps	T	A	15: 31,277,010 (GRCm39)		probably benign	Het
Fga	A	G	3: 82,938,552 (GRCm39)	Y309C	possibly damaging	Het
Fgd4	A	T	16: 16,302,167 (GRCm39)	N129K	probably damaging	Het
Gbp8	G	A	5: 105,165,735 (GRCm39)	A306V	probably benign	Het
Hecw1	T	C	13: 14,438,719 (GRCm39)	Y888C	probably damaging	Het
Herc6	G	A	6: 57,575,608 (GRCm39)	G210R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Itga1	T	C	13: 115,122,762 (GRCm39)	I731M	possibly damaging	Het
Itpr2	T	A	6: 146,014,033 (GRCm39)	K2588*	probably null	Het
Itpr3	T	A	17: 27,318,739 (GRCm39)	M965K	probably damaging	Het
Kif22	A	G	7: 126,632,645 (GRCm39)	V247A	probably damaging	Het
Lrrc17	T	C	5: 21,765,899 (GRCm39)	F127S	probably damaging	Het
Lrriq4	T	A	3: 30,704,542 (GRCm39)	L190Q	probably damaging	Het
Mcee	T	A	7: 64,050,066 (GRCm39)	F66I	probably damaging	Het
Nmd3	T	G	3: 69,631,620 (GRCm39)	S25R	possibly damaging	Het
Npy5r	T	A	8: 67,134,518 (GRCm39)	N92Y	possibly damaging	Het
Or4a69	A	G	2: 89,313,191 (GRCm39)	M96T	probably benign	Het
Rnf224	G	T	2: 25,126,259 (GRCm39)	D31E	possibly damaging	Het
Timd2	T	C	11: 46,570,499 (GRCm39)	E192G	probably benign	Het
Ttll13	T	A	7: 79,910,187 (GRCm39)	C777S	probably benign	Het
Tubgcp3	A	G	8: 12,689,625 (GRCm39)	L547P	probably damaging	Het
Usp47	G	T	7: 111,662,565 (GRCm39)	V236F	probably damaging	Het
Xirp2	A	T	2: 67,343,525 (GRCm39)	N1922I	probably damaging	Het
Zdhhc24	G	T	19: 4,928,850 (GRCm39)	W25L	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
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
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

2013-10-07