Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02022:Med10'

184020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med10

Ensembl Gene

ENSMUSG00000021598

Gene Name

mediator complex subunit 10

Synonyms

D13Wsu50e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02022

Quality Score

Status

Chromosome

Chromosomal Location

69950514-69964223 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 69961819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022089] [ENSMUST00000221893] [ENSMUST00000222387] [ENSMUST00000223376]

AlphaFold

Q9CXU0

Predicted Effect

probably benign
Transcript: ENSMUST00000022089

SMART Domains

Protein: ENSMUSP00000022089
Gene: ENSMUSG00000021598

Domain	Start	End	E-Value	Type
Pfam:Med10	9	126	1.1e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221045

Predicted Effect

probably benign
Transcript: ENSMUST00000221893

Predicted Effect

probably benign
Transcript: ENSMUST00000222387

Predicted Effect

probably benign
Transcript: ENSMUST00000223376

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,120,358 (GRCm39)	Y160C	probably damaging	Het
Abi3bp	T	C	16: 56,412,999 (GRCm39)	S314P	probably damaging	Het
Abra	T	C	15: 41,732,802 (GRCm39)	H88R	probably benign	Het
Bsn	A	G	9: 107,987,617 (GRCm39)		probably benign	Het
Chd3	A	C	11: 69,251,886 (GRCm39)	C123G	probably damaging	Het
Clca3b	A	C	3: 144,547,171 (GRCm39)		probably null	Het
Cnot7	G	T	8: 40,952,386 (GRCm39)	P190T	probably damaging	Het
Cps1	A	T	1: 67,212,031 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,407,220 (GRCm39)	T424A	probably benign	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Efhd1	G	A	1: 87,192,334 (GRCm39)	E55K	probably damaging	Het
Ep300	T	C	15: 81,495,638 (GRCm39)		probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Klhl3	A	T	13: 58,198,878 (GRCm39)	S201T	possibly damaging	Het
Krt1c	A	G	15: 101,724,953 (GRCm39)	F219S	probably damaging	Het
Lrp1b	C	T	2: 41,172,172 (GRCm39)	D751N	probably damaging	Het
Lyst	T	A	13: 13,838,629 (GRCm39)	C1848*	probably null	Het
Macf1	A	G	4: 123,284,842 (GRCm39)		probably null	Het
Msh4	T	A	3: 153,592,593 (GRCm39)	T170S	probably damaging	Het
Or52n3	T	C	7: 104,530,141 (GRCm39)	C76R	probably damaging	Het
Pelp1	T	A	11: 70,297,153 (GRCm39)		probably benign	Het
Prex2	G	A	1: 11,367,963 (GRCm39)	V1595I	probably benign	Het
Prpf8	C	T	11: 75,392,660 (GRCm39)	R1617*	probably null	Het
Rabep1	T	A	11: 70,825,385 (GRCm39)	L684Q	probably damaging	Het
Slc22a4	G	A	11: 53,874,435 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,037 (GRCm39)	F153S	probably damaging	Het
Tma16	A	G	8: 66,939,062 (GRCm39)		probably null	Het
Unc80	G	T	1: 66,665,675 (GRCm39)	R1814L	possibly damaging	Het
Vmn2r108	C	T	17: 20,691,987 (GRCm39)	D179N	possibly damaging	Het
Washc2	A	G	6: 116,236,126 (GRCm39)	E1199G	probably benign	Het
Zic1	C	A	9: 91,244,525 (GRCm39)		probably null	Het

Other mutations in Med10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:Med10	APN	13	69,963,747 (GRCm39)	missense	probably benign	0.01
IGL03091:Med10	APN	13	69,963,816 (GRCm39)	unclassified	probably benign
IGL03288:Med10	APN	13	69,963,816 (GRCm39)	unclassified	probably benign
R0138:Med10	UTSW	13	69,959,817 (GRCm39)	splice site	probably benign
R0627:Med10	UTSW	13	69,963,720 (GRCm39)	missense	possibly damaging	0.85
R1571:Med10	UTSW	13	69,958,159 (GRCm39)	missense	probably damaging	1.00
R3932:Med10	UTSW	13	69,958,101 (GRCm39)	missense	probably damaging	1.00
R8825:Med10	UTSW	13	69,962,046 (GRCm39)	missense	unknown
R9672:Med10	UTSW	13	69,963,711 (GRCm39)	missense	probably benign	0.05
Z1177:Med10	UTSW	13	69,958,089 (GRCm39)	missense	probably benign	0.02

Posted On

2014-05-07