Mutagenetix > Incidental Mutations

Incidental Mutation 'R4454:Med4'

329104

Institutional Source

Beutler Lab

Gene Symbol

Med4

Ensembl Gene

ENSMUSG00000022109

Gene Name

mediator complex subunit 4

Synonyms

p36 TRAP/SMCC/PC2 subunit, DRIP36, 2410046H15Rik, Vdrip, TRAP36, HSPC126, MED4

MMRRC Submission

041714-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73510025-73518849 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 73518062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813]

AlphaFold

Q9CQA5

Predicted Effect

unknown
Transcript: ENSMUST00000022705
AA Change: D270G

SMART Domains

Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: D270G

Domain	Start	End	E-Value	Type
Pfam:Med4	63	206	7.8e-34	PFAM
low complexity region	259	270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043813

SMART Domains

Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405

Domain	Start	End	E-Value	Type
Pfam:NUDIX	11	142	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228141

Meta Mutation Damage Score

0.1665

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,753	E163G	probably damaging	Het
AI481877	T	C	4: 59,092,383	D266G	possibly damaging	Het
Ap4e1	T	A	2: 127,047,141	F509I	probably damaging	Het
Asmt	A	T	X: 170,672,721	M19L	probably benign	Het
Atf6	C	T	1: 170,794,039	R471Q	probably damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Baiap3	T	A	17: 25,249,536	D250V	probably damaging	Het
C2cd4d	T	A	3: 94,363,747	F107I	probably damaging	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Cldn6	T	C	17: 23,681,086		probably null	Het
Cpa5	A	G	6: 30,626,324	N228S	possibly damaging	Het
Crocc	T	C	4: 141,020,405	S1478G	possibly damaging	Het
Csmd1	A	T	8: 15,945,011	C2675S	probably damaging	Het
Cthrc1	C	A	15: 39,077,013	Q4K	probably benign	Het
Ddo	A	T	10: 40,647,547	I178F	probably damaging	Het
Dmxl1	A	G	18: 49,893,332	T1836A	probably benign	Het
Dnah9	T	G	11: 66,147,389	Q107P	probably damaging	Het
Dusp26	A	G	8: 31,094,144	N93S	probably damaging	Het
Egr2	GAA	GA	10: 67,539,903		probably null	Het
Epha5	T	C	5: 84,156,444	I501V	probably damaging	Het
Eya1	C	T	1: 14,183,196	V519M	probably damaging	Het
Fam227b	T	A	2: 126,146,268		probably benign	Het
Fgd5	C	T	6: 91,989,186	S642F	probably damaging	Het
Fsip2	G	T	2: 82,990,776	A5618S	possibly damaging	Het
Gm12034	T	A	11: 20,446,476		noncoding transcript	Het
Gm13023	A	G	4: 143,792,824	S52G	probably benign	Het
Liph	T	C	16: 21,984,268	D17G	probably benign	Het
Mbd3	A	T	10: 80,393,983	L164H	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nav2	A	T	7: 49,548,544		probably null	Het
Olfr728	T	C	14: 50,140,496	I48V	probably benign	Het
Olfr904	C	A	9: 38,464,642	F200L	probably benign	Het
Pcdha11	G	A	18: 37,007,373	G685D	probably benign	Het
Pgc	A	G	17: 47,732,410	I228V	probably benign	Het
Rad51	C	T	2: 119,131,568	H199Y	probably damaging	Het
Robo2	A	T	16: 74,352,519		probably benign	Het
Sap130	C	T	18: 31,711,360	T861I	probably damaging	Het
Sh3tc2	A	T	18: 62,007,773	D1061V	probably damaging	Het
Snapc3	A	G	4: 83,418,759	E119G	probably damaging	Het
Sspo	G	A	6: 48,487,225	G3862D	probably benign	Het
Tbc1d16	G	A	11: 119,157,873	T318M	possibly damaging	Het
Thrb	T	A	14: 18,011,187	W188R	probably damaging	Het
Thsd1	T	C	8: 22,243,578	Y214H	probably damaging	Het
Tnfrsf13b	T	C	11: 61,141,438	V98A	probably benign	Het
Topbp1	T	C	9: 103,344,871	Y1314H	probably damaging	Het
Ttn	C	A	2: 76,785,806	V8271L	possibly damaging	Het
Ttn	T	C	2: 76,946,913	M1382V	probably benign	Het
Utrn	G	T	10: 12,727,840	Q599K	possibly damaging	Het
Zfp995	G	A	17: 21,879,951	T434I	probably benign	Het
Zfy1	G	T	Y: 725,518	T749K	possibly damaging	Het

Other mutations in Med4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med4	APN	14	73517267	missense	probably damaging	1.00
IGL02728:Med4	APN	14	73517975	missense	possibly damaging	0.87
IGL02964:Med4	APN	14	73517921	missense	probably damaging	0.98
R0718:Med4	UTSW	14	73516657	missense	probably damaging	1.00
R2131:Med4	UTSW	14	73517996	missense	possibly damaging	0.82
R2156:Med4	UTSW	14	73518032	unclassified	probably benign
R2320:Med4	UTSW	14	73517933	missense	possibly damaging	0.86
R5361:Med4	UTSW	14	73510113	nonsense	probably null
R6419:Med4	UTSW	14	73513923	missense	probably damaging	1.00
R8461:Med4	UTSW	14	73518028	missense	unknown
R8724:Med4	UTSW	14	73513809	nonsense	probably null
R9172:Med4	UTSW	14	73513925	missense	probably benign	0.00
R9322:Med4	UTSW	14	73510161	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTAATCCCATGTGCCTC -3'
(R):5'- TCTTCAGTCTCATGCCAGGG -3'

Sequencing Primer
(F):5'- GGACTAATCCCATGTGCCTCTTTTC -3'
(R):5'- TCATGCCAGGGCTGCTATGTAC -3'

Posted On

2015-07-21