Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Med24'

587637

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

045670-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98595423-98620245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98605923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 323 (Y323C)

Ref Sequence

ENSEMBL: ENSMUSP00000017354 (fasta)

Gene Model

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

AlphaFold

Q99K74

Predicted Effect

probably damaging
Transcript: ENSMUST00000017354
AA Change: Y323C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: Y323C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100500
AA Change: Y342C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: Y342C

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

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

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Acsm3	A	G	7: 119,384,213 (GRCm39)		probably null	Het
Acvr2a	T	A	2: 48,784,749 (GRCm39)	L345*	probably null	Het
App	T	C	16: 84,876,890 (GRCm39)	D167G	unknown	Het
Arhgef33	A	G	17: 80,677,734 (GRCm39)	D427G	probably damaging	Het
Arid2	T	C	15: 96,288,875 (GRCm39)	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,808,935 (GRCm39)	Y985C		Het
AW209491	A	G	13: 14,811,831 (GRCm39)	D228G	probably benign	Het
Casc3	G	A	11: 98,712,311 (GRCm39)	A117T	probably benign	Het
Cass4	C	T	2: 172,271,568 (GRCm39)	P645S	probably benign	Het
Ccar2	A	T	14: 70,379,243 (GRCm39)	Y553*	probably null	Het
Cox16	A	T	12: 81,521,352 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,151,551 (GRCm39)	V275E	possibly damaging	Het
Dido1	A	G	2: 180,316,905 (GRCm39)	V634A	probably benign	Het
Dnajb1	G	A	8: 84,336,473 (GRCm39)	S81N	probably benign	Het
Dst	A	G	1: 34,252,094 (GRCm39)	K2262E	probably damaging	Het
Eya3	T	C	4: 132,422,136 (GRCm39)	V237A	probably benign	Het
Fbxo31	T	A	8: 122,279,107 (GRCm39)	D460V	probably damaging	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Gabrg3	A	T	7: 56,632,443 (GRCm39)	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10134	T	C	2: 28,396,372 (GRCm39)	M89T	unknown	Het
Kif17	T	C	4: 138,005,236 (GRCm39)	L267P	probably damaging	Het
Ksr2	C	A	5: 117,693,131 (GRCm39)	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,110,564 (GRCm39)	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359 (GRCm39)	L1247F	probably benign	Het
Mthfd2	A	G	6: 83,283,665 (GRCm39)	V339A	probably benign	Het
Mtus2	G	T	5: 148,014,216 (GRCm39)	R336S	probably benign	Het
Muc16	T	C	9: 18,556,358 (GRCm39)	T3312A	unknown	Het
Nacad	A	G	11: 6,552,457 (GRCm39)	S245P	probably damaging	Het
Nacc1	T	C	8: 85,401,631 (GRCm39)	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,365,268 (GRCm39)	V582A	probably damaging	Het
Nid2	T	A	14: 19,818,791 (GRCm39)	D428E	probably benign	Het
Or10ag57	A	G	2: 87,218,613 (GRCm39)	H188R	probably damaging	Het
Or4a80	T	A	2: 89,582,906 (GRCm39)	T89S	probably benign	Het
Or56a4	A	G	7: 104,806,880 (GRCm39)	L3S	probably benign	Het
Osbpl5	A	T	7: 143,247,534 (GRCm39)	L768Q	probably benign	Het
Plch2	C	T	4: 155,091,484 (GRCm39)	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,123,277 (GRCm39)	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,316,670 (GRCm39)	S2P	possibly damaging	Het
Pramel26	A	T	4: 143,539,286 (GRCm39)	I69N	probably damaging	Het
Psmd5	G	T	2: 34,750,741 (GRCm39)	H239Q	probably benign	Het
Ptcd2	C	A	13: 99,456,790 (GRCm39)	A345S	possibly damaging	Het
Sap30l	G	A	11: 57,700,947 (GRCm39)		probably null	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,508,634 (GRCm39)	I470T	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Syne1	A	G	10: 5,165,190 (GRCm39)		probably null	Het
Tg	T	A	15: 66,601,432 (GRCm39)	D1766E	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tlr6	T	C	5: 65,110,594 (GRCm39)	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,764,508 (GRCm39)	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587 (GRCm38)	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,694,595 (GRCm39)	M158T	possibly damaging	Het
Ttn	T	C	2: 76,557,186 (GRCm39)	I29940V	probably benign	Het
Ttn	G	A	2: 76,581,698 (GRCm39)	T23065I	probably damaging	Het
Umodl1	A	G	17: 31,173,779 (GRCm39)	S20G	probably benign	Het
Uts2r	G	T	11: 121,052,191 (GRCm39)	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,342 (GRCm39)	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,580,635 (GRCm39)	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,738,382 (GRCm39)	D229E	probably damaging	Het
Zfp541	A	G	7: 15,810,311 (GRCm39)	D116G	probably damaging	Het
Zfp971	A	G	2: 177,675,793 (GRCm39)	E464G	possibly 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
R7536:Med24	UTSW	11	98,603,447 (GRCm39)	missense	possibly damaging	0.52
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'- TCAGCTGCAGCCTAAAAGAC -3'
(R):5'- GAGACATAGGGTGCTCAGGTAC -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- CAGGTACCCGTGTGTAGGCTTAC -3'

Posted On

2019-10-24