Mutagenetix > Incidental Mutation

Incidental Mutation 'R3157:Med14'

263572

Institutional Source

Beutler Lab

Gene Symbol

Med14

Ensembl Gene

ENSMUSG00000064127

Gene Name

mediator complex subunit 14

Synonyms

Crsp2, ENSMUSG00000073278, 9930001L01Rik, LOC270579, ORF1, Trap170

MMRRC Submission

040608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R3157 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

12541608-12628312 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 12550330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096495] [ENSMUST00000115481]

AlphaFold

A2ABV5

Predicted Effect

probably benign
Transcript: ENSMUST00000096495

SMART Domains

Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127

Domain	Start	End	E-Value	Type
low complexity region	13	54	N/A	INTRINSIC
Pfam:Med14	55	244	6.7e-63	PFAM
low complexity region	608	621	N/A	INTRINSIC
low complexity region	1005	1018	N/A	INTRINSIC
low complexity region	1065	1086	N/A	INTRINSIC
low complexity region	1346	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115481

SMART Domains

Protein: ENSMUSP00000111143
Gene: ENSMUSG00000064127

Domain	Start	End	E-Value	Type
low complexity region	366	379	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
low complexity region	707	722	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124053

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	T	13: 8,747,669 (GRCm39)	K408N	probably benign	Het
Aoc2	A	T	11: 101,220,102 (GRCm39)	N696I	probably damaging	Het
Ap1g2	A	T	14: 55,336,731 (GRCm39)	I747N	probably damaging	Het
Arhgap27	T	A	11: 103,224,663 (GRCm39)		probably null	Het
Bmp1	G	T	14: 70,729,547 (GRCm39)	N541K	possibly damaging	Het
Cacna1c	T	A	6: 118,728,485 (GRCm39)	T320S	probably benign	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cd300e	A	C	11: 114,952,849 (GRCm39)	M1R	probably null	Het
Cep95	A	G	11: 106,700,013 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
D630003M21Rik	A	C	2: 158,037,392 (GRCm39)		probably benign	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
Dock8	T	C	19: 25,127,195 (GRCm39)	Y1058H	probably benign	Het
Dscam	T	C	16: 96,479,710 (GRCm39)	T1146A	probably benign	Het
Fnip2	T	C	3: 79,474,901 (GRCm39)	T4A	probably damaging	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gxylt1	A	G	15: 93,142,913 (GRCm39)	I384T	probably benign	Het
Hmcn2	A	G	2: 31,290,267 (GRCm39)	N2367D	probably damaging	Het
Hydin	A	G	8: 110,994,005 (GRCm39)	K13R	unknown	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcns1	G	A	2: 164,006,865 (GRCm39)	A366V	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Klrb1c	G	T	6: 128,761,702 (GRCm39)	T134K	possibly damaging	Het
Mgat4d	T	C	8: 84,081,450 (GRCm39)	Y68H	probably benign	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,833,400 (GRCm39)	D295E	probably benign	Het
Npas2	C	T	1: 39,386,690 (GRCm39)	T653M	possibly damaging	Het
Nps	A	G	7: 134,873,989 (GRCm39)	D53G	probably benign	Het
Ociad1	A	T	5: 73,467,688 (GRCm39)	R155*	probably null	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Pcdha2	A	G	18: 37,073,145 (GRCm39)	T259A	probably damaging	Het
Pced1a	A	G	2: 130,261,687 (GRCm39)	M322T	probably benign	Het
Pcgf6	T	C	19: 47,028,475 (GRCm39)		probably benign	Het
Pigg	C	T	5: 108,462,014 (GRCm39)	T115I	probably damaging	Het
Plcd4	G	A	1: 74,590,313 (GRCm39)		probably null	Het
Prss52	G	T	14: 64,350,992 (GRCm39)	W259L	probably damaging	Het
Rasal2	A	G	1: 156,986,225 (GRCm39)		probably benign	Het
Rec8	A	G	14: 55,862,763 (GRCm39)	E574G	probably damaging	Het
Sectm1a	A	G	11: 120,959,603 (GRCm39)	I175T	probably benign	Het
Slc16a8	T	C	15: 79,136,375 (GRCm39)	I276V	probably damaging	Het
Slc8a3	C	A	12: 81,361,766 (GRCm39)	R351L	probably damaging	Het
Slc9b1	G	A	3: 135,077,606 (GRCm39)	G100E	probably damaging	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Synpr	C	T	14: 13,493,614 (GRCm38)	A64V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,901 (GRCm39)	W680*	probably null	Het
Tpt1	G	A	14: 76,083,840 (GRCm39)		probably benign	Het
Trav18	A	G	14: 54,069,152 (GRCm39)	T65A	probably benign	Het
Ttll4	T	C	1: 74,736,770 (GRCm39)	L1165P	possibly damaging	Het

Other mutations in Med14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Med14	APN	X	12,613,003 (GRCm39)	splice site	probably benign
IGL00670:Med14	APN	X	12,620,428 (GRCm39)	missense	probably damaging	0.98
IGL00895:Med14	APN	X	12,547,039 (GRCm39)	missense	probably damaging	0.99
IGL02434:Med14	APN	X	12,612,063 (GRCm39)	missense	possibly damaging	0.89
IGL03064:Med14	APN	X	12,613,742 (GRCm39)	missense	probably benign	0.04
R0295:Med14	UTSW	X	12,551,987 (GRCm39)	missense	probably damaging	1.00
R2844:Med14	UTSW	X	12,550,235 (GRCm39)	missense	probably benign	0.01
R2860:Med14	UTSW	X	12,585,936 (GRCm39)	missense	probably benign
R2861:Med14	UTSW	X	12,585,936 (GRCm39)	missense	probably benign
R2862:Med14	UTSW	X	12,585,936 (GRCm39)	missense	probably benign
R3158:Med14	UTSW	X	12,550,330 (GRCm39)	splice site	probably benign
R3807:Med14	UTSW	X	12,553,416 (GRCm39)	missense	probably damaging	1.00
X0022:Med14	UTSW	X	12,553,380 (GRCm39)	missense	probably damaging	1.00
Z1088:Med14	UTSW	X	12,543,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCAAAGTGAGTGAGCTAGACC -3'
(R):5'- ACAGATGCCCTGAAATGCAG -3'

Sequencing Primer
(F):5'- GTGAGCTAGACCATAAGTACTGTTC -3'
(R):5'- TGAAATGCAGAGTAGCCCTTAGTCC -3'

Posted On

2015-02-05