Mutagenetix > Incidental Mutation

Incidental Mutation 'R1887:Med24'

209669

Institutional Source

Beutler Lab

Gene Symbol

Med24

Ensembl Gene

ENSMUSG00000017210

Gene Name

mediator complex subunit 24

Synonyms

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

MMRRC Submission

039908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1887 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

98595423-98620245 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to G at 98609642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120002 (fasta)

Gene Model

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

AlphaFold

Q99K74

Predicted Effect

probably benign
Transcript: ENSMUST00000017354

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100500

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210

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

1x: 97.1%
3x: 96.1%
10x: 93.2%
20x: 86.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
4930544D05Rik	A	G	11: 70,507,249 (GRCm39)	E98G	probably damaging	Het
Abca8a	A	T	11: 109,980,768 (GRCm39)	M90K	probably damaging	Het
Adamts9	A	G	6: 92,849,769 (GRCm39)		probably null	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Akr1c18	T	A	13: 4,193,287 (GRCm39)	N126I	probably benign	Het
Ankmy2	T	A	12: 36,220,467 (GRCm39)	M51K	possibly damaging	Het
Antkmt	C	A	17: 26,010,319 (GRCm39)		probably null	Het
Apc	A	G	18: 34,405,521 (GRCm39)	E159G	probably damaging	Het
Arhgef28	G	T	13: 98,282,081 (GRCm39)	S4R	probably damaging	Het
Atg2b	G	A	12: 105,620,351 (GRCm39)	T784M	probably benign	Het
Atp11a	A	G	8: 12,862,324 (GRCm39)	N59D	probably damaging	Het
Cacna1h	T	C	17: 25,595,861 (GRCm39)	Y1875C	probably benign	Het
Capza1	A	T	3: 104,747,096 (GRCm39)		probably null	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdcp2	T	C	4: 106,959,899 (GRCm39)	F105L	probably damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cep152	A	T	2: 125,462,225 (GRCm39)	M58K	probably benign	Het
Comtd1	A	G	14: 21,897,809 (GRCm39)	L108P	probably damaging	Het
Cyp2b13	A	G	7: 25,788,075 (GRCm39)	Y401C	probably damaging	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Eea1	T	A	10: 95,854,073 (GRCm39)		probably null	Het
Eeig1	T	A	2: 32,450,140 (GRCm39)	N129K	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,221,380 (GRCm39)	V157A	probably damaging	Het
Fat3	T	A	9: 15,878,357 (GRCm39)	I3375F	probably damaging	Het
Fmod	A	G	1: 133,968,551 (GRCm39)	E197G	possibly damaging	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gpatch1	A	T	7: 35,002,813 (GRCm39)	N232K	probably damaging	Het
H2-Q4	A	G	17: 35,599,113 (GRCm39)	R128G	possibly damaging	Het
Hc	T	C	2: 34,924,623 (GRCm39)	I435V	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,785 (GRCm39)	D231E	possibly damaging	Het
Irag1	A	G	7: 110,523,740 (GRCm39)		probably null	Het
Kcnt2	T	A	1: 140,511,985 (GRCm39)	S1023T	probably damaging	Het
Klc2	A	G	19: 5,158,640 (GRCm39)	V618A	probably benign	Het
Lzts1	T	C	8: 69,591,485 (GRCm39)	D221G	probably damaging	Het
Mdn1	G	C	4: 32,742,540 (GRCm39)	R3926P	probably damaging	Het
Mga	T	A	2: 119,754,098 (GRCm39)	L869Q	probably damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlrp5	T	A	7: 23,116,909 (GRCm39)	V211D	probably damaging	Het
Nr1h4	A	T	10: 89,290,729 (GRCm39)	M433K	possibly damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or8k22	A	G	2: 86,163,617 (GRCm39)	F28L	possibly damaging	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pik3cd	T	A	4: 149,737,091 (GRCm39)	I902F	probably damaging	Het
Pip5kl1	A	G	2: 32,468,517 (GRCm39)	T198A	probably damaging	Het
Prkdc	T	C	16: 15,647,499 (GRCm39)	V3641A	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Rpl37	C	T	15: 5,148,072 (GRCm39)	T83M	possibly damaging	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Serinc5	A	T	13: 92,838,214 (GRCm39)	D340V	possibly damaging	Het
Stambpl1	A	G	19: 34,213,808 (GRCm39)	I346V	probably benign	Het
Syna	G	A	5: 134,588,106 (GRCm39)	S281L	probably benign	Het
Tcstv2a	G	T	13: 120,725,604 (GRCm39)	K89N	probably damaging	Het
Tet2	T	C	3: 133,193,094 (GRCm39)	T447A	possibly damaging	Het
Tgfbr3	A	G	5: 107,284,874 (GRCm39)	F592L	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Ttc6	T	A	12: 57,720,044 (GRCm39)	S872T	probably benign	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr4	T	C	4: 139,182,871 (GRCm39)	L419P	probably damaging	Het
Ush2a	C	A	1: 188,132,177 (GRCm39)	Q800K	probably benign	Het
Vmn2r115	T	C	17: 23,565,007 (GRCm39)	I298T	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,288 (GRCm39)	T320A	possibly damaging	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het

Other mutations in Med24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Med24	APN	11	98,600,508 (GRCm39)	missense	probably damaging	0.99
IGL01960:Med24	APN	11	98,598,368 (GRCm39)	missense	probably benign
IGL02119:Med24	APN	11	98,619,661 (GRCm39)	missense	probably benign	0.14
IGL02681:Med24	APN	11	98,600,565 (GRCm39)	nonsense	probably null
IGL03038:Med24	APN	11	98,607,010 (GRCm39)	missense	possibly damaging	0.93
IGL03377:Med24	APN	11	98,595,962 (GRCm39)	missense	possibly damaging	0.67
R1186:Med24	UTSW	11	98,608,583 (GRCm39)	utr 3 prime	probably benign
R1888:Med24	UTSW	11	98,598,108 (GRCm39)	utr 3 prime	probably benign
R1936:Med24	UTSW	11	98,609,642 (GRCm39)	critical splice donor site	probably null
R2063:Med24	UTSW	11	98,606,472 (GRCm39)	missense	probably damaging	0.98
R3895:Med24	UTSW	11	98,597,214 (GRCm39)	missense	probably benign
R4328:Med24	UTSW	11	98,597,942 (GRCm39)	critical splice donor site	probably null
R4751:Med24	UTSW	11	98,597,258 (GRCm39)	missense	probably damaging	0.98
R5195:Med24	UTSW	11	98,601,107 (GRCm39)	missense	possibly damaging	0.71
R5237:Med24	UTSW	11	98,601,609 (GRCm39)	missense	probably damaging	0.98
R6047:Med24	UTSW	11	98,598,591 (GRCm39)	nonsense	probably null
R6834:Med24	UTSW	11	98,595,850 (GRCm39)	splice site	probably null
R6984:Med24	UTSW	11	98,609,368 (GRCm39)	missense	possibly damaging	0.51
R7015:Med24	UTSW	11	98,609,678 (GRCm39)	missense	possibly damaging	0.51
R7244:Med24	UTSW	11	98,605,223 (GRCm39)	splice site	probably null
R7479:Med24	UTSW	11	98,595,787 (GRCm39)	missense	possibly damaging	0.52
R7536:Med24	UTSW	11	98,603,447 (GRCm39)	missense	possibly damaging	0.52
R7594:Med24	UTSW	11	98,605,923 (GRCm39)	missense	probably damaging	0.98
R7667:Med24	UTSW	11	98,603,990 (GRCm39)	missense	possibly damaging	0.71
R7745:Med24	UTSW	11	98,595,793 (GRCm39)	missense	probably damaging	0.98
R8023:Med24	UTSW	11	98,609,321 (GRCm39)	critical splice donor site	probably null
R8146:Med24	UTSW	11	98,608,940 (GRCm39)	missense	probably benign	0.08
R8382:Med24	UTSW	11	98,608,537 (GRCm39)	missense	unknown
R8442:Med24	UTSW	11	98,598,383 (GRCm39)	missense	probably benign	0.32
R8806:Med24	UTSW	11	98,595,970 (GRCm39)	missense	probably damaging	0.99
R9388:Med24	UTSW	11	98,600,893 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCACTACCTCTCACAAGCTCTG -3'
(R):5'- CAGCACATGTTACTGTGGGC -3'

Sequencing Primer
(F):5'- ACCTCTCACAAGCTCTGCTACC -3'
(R):5'- GCCTTTTAATGAGCTGAGGAAACC -3'

Posted On

2014-06-30