Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03038:Med24'

408775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med24

Ensembl Gene

ENSMUSG00000017210

Gene Name

mediator complex subunit 24

Synonyms

Trap100, 100kDa, Thrap4, Pparb2, R75526, DRIP100, Gse2, D11Ertd307e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03038

Quality Score

Status

Chromosome

Chromosomal Location

98704591-98729435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98716184 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 276 (T276P)

Ref Sequence

ENSEMBL: ENSMUSP00000098069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000100500] [ENSMUST00000126565] [ENSMUST00000138750]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017354
AA Change: T257P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: T257P

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	985	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100500
AA Change: T276P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: T276P

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	1004	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125064

Predicted Effect

probably benign
Transcript: ENSMUST00000126565

SMART Domains

Protein: ENSMUSP00000118820
Gene: ENSMUSG00000017210

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	90	5.6e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137328

Predicted Effect

probably benign
Transcript: ENSMUST00000138750

SMART Domains

Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210

Domain	Start	End	E-Value	Type
Pfam:Med24_N	1	46	1.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144048

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene may form a submodule of the mediator complex that magnifies the effects of activators on the general transcription machinery. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die prior to birth exhibiting abnormal heart development, neural tube defects, and anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,428,456	Y111H	probably damaging	Het
Arhgef6	C	T	X: 57,245,606	V262I	probably benign	Het
Arsk	C	A	13: 76,065,513		probably benign	Het
Ces1b	T	C	8: 93,067,052	E303G	probably benign	Het
Chst9	T	C	18: 15,495,303	Q55R	probably benign	Het
Cntnap3	A	T	13: 64,741,025	D1153E	possibly damaging	Het
D130043K22Rik	A	G	13: 24,879,619	E681G	probably damaging	Het
Fhad1	T	C	4: 142,002,494	E66G	probably benign	Het
Flii	T	C	11: 60,724,832	T69A	probably benign	Het
Foxl1	A	C	8: 121,128,419	E153A	probably damaging	Het
Gstm3	T	C	3: 107,966,169	D162G	possibly damaging	Het
Gtpbp3	G	A	8: 71,489,303	V96I	possibly damaging	Het
Insig2	G	A	1: 121,319,674	T56I	probably damaging	Het
Kif13a	A	G	13: 46,772,838	L264P	probably damaging	Het
Lama3	T	G	18: 12,419,250	C420G	probably damaging	Het
Lrp2	C	T	2: 69,475,464	G2918S	probably damaging	Het
Lrrc8b	T	C	5: 105,481,492	L568P	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Malrd1	G	A	2: 16,127,967	D1900N	unknown	Het
Mastl	C	A	2: 23,140,615		probably benign	Het
Naip1	A	C	13: 100,437,333	Y239*	probably null	Het
Nhsl2	A	G	X: 102,078,885	K765E	probably damaging	Het
Npy	A	G	6: 49,823,608	N4S	probably benign	Het
Nsun2	A	G	13: 69,619,584	D188G	probably damaging	Het
Olfr794	A	G	10: 129,570,921	T89A	probably benign	Het
Pde1a	C	A	2: 79,887,946		probably benign	Het
Pik3cb	G	A	9: 99,065,597	A509V	probably damaging	Het
Pou2f2	C	T	7: 25,097,152	S315N	probably damaging	Het
Prdm2	A	C	4: 143,134,001	S906R	probably damaging	Het
Prkaca	C	A	8: 83,994,951	Q300K	probably benign	Het
Prox2	T	C	12: 85,095,264	D55G	possibly damaging	Het
Ryr3	T	A	2: 112,668,120	T3612S	possibly damaging	Het
S1pr1	T	A	3: 115,712,694	I84L	possibly damaging	Het
Slc47a1	C	T	11: 61,353,092	V384M	probably benign	Het
Slc6a20b	T	C	9: 123,597,329	N497S	possibly damaging	Het
Spen	C	A	4: 141,538,239	R3L	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Ttll6	T	C	11: 96,151,960	F444S	probably damaging	Het
Vwce	T	A	19: 10,646,671	Y309N	possibly damaging	Het
Vwf	T	C	6: 125,604,157	L586P	possibly damaging	Het
Wdr35	T	C	12: 8,974,185		probably benign	Het

Other mutations in Med24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Med24	APN	11	98709682	missense	probably damaging	0.99
IGL01960:Med24	APN	11	98707542	missense	probably benign
IGL02119:Med24	APN	11	98728835	missense	probably benign	0.14
IGL02681:Med24	APN	11	98709739	nonsense	probably null
IGL03377:Med24	APN	11	98705136	missense	possibly damaging	0.67
R1186:Med24	UTSW	11	98717757	utr 3 prime	probably benign
R1887:Med24	UTSW	11	98718816	critical splice donor site	probably benign
R1888:Med24	UTSW	11	98707282	utr 3 prime	probably benign
R1936:Med24	UTSW	11	98718816	critical splice donor site	probably null
R2063:Med24	UTSW	11	98715646	missense	probably damaging	0.98
R3895:Med24	UTSW	11	98706388	missense	probably benign
R4328:Med24	UTSW	11	98707116	critical splice donor site	probably null
R4751:Med24	UTSW	11	98706432	missense	probably damaging	0.98
R5195:Med24	UTSW	11	98710281	missense	possibly damaging	0.71
R5237:Med24	UTSW	11	98710783	missense	probably damaging	0.98
R6047:Med24	UTSW	11	98707765	nonsense	probably null
R6834:Med24	UTSW	11	98705024	splice site	probably null
R6984:Med24	UTSW	11	98718542	missense	possibly damaging	0.51
R7015:Med24	UTSW	11	98718852	missense	possibly damaging	0.51
R7244:Med24	UTSW	11	98714397	splice site	probably null
R7479:Med24	UTSW	11	98704961	missense	possibly damaging	0.52
R7536:Med24	UTSW	11	98712621	missense	possibly damaging	0.52
R7594:Med24	UTSW	11	98715097	missense	probably damaging	0.98
R7667:Med24	UTSW	11	98713164	missense	possibly damaging	0.71
R7745:Med24	UTSW	11	98704967	missense	probably damaging	0.98
R8023:Med24	UTSW	11	98718495	critical splice donor site	probably null
R8146:Med24	UTSW	11	98718114	missense	probably benign	0.08

Posted On

2016-08-02