Mutagenetix > Incidental Mutation

Incidental Mutation 'R7536:Med24'

583608

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

045608-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98595423-98620245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98603447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 439 (H439Y)

Ref Sequence

ENSEMBL: ENSMUSP00000017354 (fasta)

Gene Model

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

AlphaFold

Q99K74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017354
AA Change: H439Y

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: H439Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100500
AA Change: H458Y

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: H458Y

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
AI597479	C	G	1: 43,150,505 (GRCm39)	A205G	possibly damaging	Het
Akr1c14	T	A	13: 4,113,690 (GRCm39)	V74E	probably damaging	Het
Armh4	G	T	14: 50,011,703 (GRCm39)		probably null	Het
Bbs9	A	T	9: 22,582,096 (GRCm39)	Q596L	probably damaging	Het
Bub3	A	G	7: 131,170,432 (GRCm39)	D318G	probably damaging	Het
Cela1	A	G	15: 100,573,245 (GRCm39)	V248A	probably damaging	Het
Cer1	C	A	4: 82,803,205 (GRCm39)	R39L	probably benign	Het
Clec16a	A	G	16: 10,456,708 (GRCm39)	T624A	possibly damaging	Het
Coro1c	C	A	5: 113,983,350 (GRCm39)	G393W	probably damaging	Het
Crym	A	G	7: 119,800,331 (GRCm39)	L97P	probably damaging	Het
Cyp2a5	T	G	7: 26,539,903 (GRCm39)	L317R	probably damaging	Het
Cyp2j6	C	A	4: 96,423,774 (GRCm39)	G198V	probably damaging	Het
Dnajb6	A	G	5: 29,962,804 (GRCm39)	E238G	possibly damaging	Het
Dnhd1	C	A	7: 105,358,768 (GRCm39)	T3419K	probably damaging	Het
Dpep3	A	T	8: 106,704,032 (GRCm39)	I262K	probably damaging	Het
Dscam	T	G	16: 96,442,226 (GRCm39)		probably null	Het
Farsb	A	G	1: 78,420,391 (GRCm39)	V500A	possibly damaging	Het
Fbxl20	A	T	11: 97,986,209 (GRCm39)	C136*	probably null	Het
Fbxo43	G	T	15: 36,161,997 (GRCm39)	D403E	probably benign	Het
Frem1	A	G	4: 82,874,432 (GRCm39)	S1397P	probably damaging	Het
Fut8	A	G	12: 77,521,852 (GRCm39)	Y497C	probably damaging	Het
Gbp3	A	T	3: 142,272,156 (GRCm39)	R219S	probably damaging	Het
Gm14295	T	A	2: 176,502,722 (GRCm39)	H737Q	possibly damaging	Het
Gpr89	C	A	3: 96,798,209 (GRCm39)	R149L	probably damaging	Het
Greb1	A	T	12: 16,732,186 (GRCm39)	Y1592N	probably damaging	Het
Gria4	A	C	9: 4,464,298 (GRCm39)	Y555D	probably damaging	Het
Hspa1b	T	A	17: 35,177,851 (GRCm39)	T45S	possibly damaging	Het
Kif5b	A	T	18: 6,216,235 (GRCm39)	N571K	probably benign	Het
Mapkbp1	T	A	2: 119,849,066 (GRCm39)	M694K	probably damaging	Het
Mgl2	G	T	11: 70,027,833 (GRCm39)	R347L	probably benign	Het
Mms22l	T	A	4: 24,581,240 (GRCm39)	L850Q	probably damaging	Het
Mrpl51	T	C	6: 125,169,530 (GRCm39)	V44A	possibly damaging	Het
Mylk3	T	C	8: 86,080,233 (GRCm39)	I485V	probably benign	Het
Or10ag54	C	T	2: 87,099,943 (GRCm39)	Q273*	probably null	Het
Or7e174	C	A	9: 20,012,826 (GRCm39)	T257K	probably damaging	Het
Pde4dip	A	G	3: 97,664,560 (GRCm39)	L434P	probably damaging	Het
Pla2g4a	T	C	1: 149,755,768 (GRCm39)	Y223C	probably damaging	Het
Plcl1	C	T	1: 55,752,640 (GRCm39)	Q995*	probably null	Het
Pls1	C	T	9: 95,644,110 (GRCm39)	C462Y	probably damaging	Het
Ppp6r3	T	C	19: 3,557,341 (GRCm39)	E249G	possibly damaging	Het
Prb1a	T	A	6: 132,184,184 (GRCm39)	N483I	unknown	Het
R3hdm1	A	G	1: 128,109,948 (GRCm39)		probably null	Het
Rasgrp3	T	C	17: 75,821,128 (GRCm39)	F445S	probably damaging	Het
Rnf39	G	T	17: 37,254,009 (GRCm39)	L10F	probably damaging	Het
Rnh1	T	C	7: 140,740,725 (GRCm39)	D410G	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bp2	A	G	5: 34,700,901 (GRCm39)	T35A	probably benign	Het
Skint6	T	A	4: 112,668,744 (GRCm39)		probably null	Het
Slc13a1	A	T	6: 24,100,330 (GRCm39)	D384E	probably damaging	Het
Slc27a6	A	G	18: 58,689,698 (GRCm39)	T55A	probably damaging	Het
Slc46a2	G	A	4: 59,914,141 (GRCm39)	Q261*	probably null	Het
Spata31d1e	C	T	13: 59,889,556 (GRCm39)	V755M	probably damaging	Het
St7	C	G	6: 17,886,019 (GRCm39)	P327R	probably damaging	Het
Stx1a	T	C	5: 135,078,694 (GRCm39)	I268T	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tmem145	T	C	7: 25,007,294 (GRCm39)	S171P	probably damaging	Het
Traf2	A	G	2: 25,427,118 (GRCm39)	Y78H	possibly damaging	Het
Tsc22d1	A	G	14: 76,742,203 (GRCm39)	Y16C	probably benign	Het
Ttc39b	A	T	4: 83,158,215 (GRCm39)	Y503*	probably null	Het
Ttn	T	C	2: 76,547,681 (GRCm39)	D32163G	probably benign	Het
Uba6	A	T	5: 86,272,191 (GRCm39)	S833T	probably benign	Het
Wdtc1	A	G	4: 133,022,561 (GRCm39)	L595P	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
R1887:Med24	UTSW	11	98,609,642 (GRCm39)	critical splice donor site	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
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'- ACACGTCTGTCACAGTTTCTAG -3'
(R):5'- GGCAGTGATCTTCCTGTTCG -3'

Sequencing Primer
(F):5'- CCCTGGTCTGTACACCTCAAAGG -3'
(R):5'- CAGTGATCTTCCTGTTCGAGCAG -3'

Posted On

2019-10-17