Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Med24'

672086

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

068612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98595423-98620245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98595970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 941 (I941N)

Ref Sequence

ENSEMBL: ENSMUSP00000017354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000038886] [ENSMUST00000100500] [ENSMUST00000138750]

AlphaFold

Q99K74

Predicted Effect

probably damaging
Transcript: ENSMUST00000017354
AA Change: I941N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: I941N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038886

SMART Domains

Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	31	54	N/A	INTRINSIC
IL6	57	205	3.59e-48	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100500
AA Change: I960N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: I960N

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: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	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
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
R9388:Med24	UTSW	11	98,600,893 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTCCTCAGAGTGCAGCAATG -3'
(R):5'- TGTCTAACCTGTTCGAGAACTG -3'

Sequencing Primer
(F):5'- CTGTGATGGCCAGAACAACCTTG -3'
(R):5'- CTAACCTGTTCGAGAACTGTGTGTC -3'

Posted On

2021-04-30