Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01644:Med29'

102594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med29

Ensembl Gene

ENSMUSG00000003444

Gene Name

mediator complex subunit 29

Synonyms

2810405O22Rik, Ixl

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01644

Quality Score

Status

Chromosome

Chromosomal Location

28085571-28092133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28090272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 108 (F108L)

Ref Sequence

ENSEMBL: ENSMUSP00000003536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003529] [ENSMUST00000003536]

AlphaFold

Q9DB91

Predicted Effect

probably benign
Transcript: ENSMUST00000003529

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437

Domain	Start	End	E-Value	Type
Pfam:Paf1	28	441	2.3e-154	PFAM
low complexity region	456	470	N/A	INTRINSIC
low complexity region	476	511	N/A	INTRINSIC
low complexity region	514	535	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000003536
AA Change: F108L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003536
Gene: ENSMUSG00000003444
AA Change: F108L

Domain	Start	End	E-Value	Type
Pfam:Med29	51	186	7.3e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152512

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 100,946,424 (GRCm39)	*82R	probably null	Het
Crb1	T	A	1: 139,165,368 (GRCm39)	R919*	probably null	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Defa29	A	T	8: 21,816,137 (GRCm39)	C77S	possibly damaging	Het
Defb7	A	T	8: 19,547,717 (GRCm39)		probably benign	Het
Ece2	T	C	16: 20,436,616 (GRCm39)	V146A	possibly damaging	Het
Efcab6	T	A	15: 83,917,273 (GRCm39)	S96C	probably damaging	Het
Gm7729	T	C	18: 27,731,872 (GRCm39)		noncoding transcript	Het
Hapln2	G	T	3: 87,929,944 (GRCm39)	R311S	probably damaging	Het
Impg2	C	T	16: 56,080,233 (GRCm39)	P679L	probably benign	Het
Kansl1l	A	G	1: 66,840,475 (GRCm39)	I275T	probably benign	Het
Nrxn1	C	T	17: 90,928,301 (GRCm39)	C789Y	possibly damaging	Het
Or10w1	A	T	19: 13,632,768 (GRCm39)		probably benign	Het
Or4c123	T	C	2: 89,126,976 (GRCm39)	I213V	probably benign	Het
Palld	T	C	8: 62,330,512 (GRCm39)	K122E	probably benign	Het
Ppl	A	T	16: 4,909,719 (GRCm39)	L864H	probably damaging	Het
Ptov1	C	A	7: 44,516,926 (GRCm39)	E37*	probably null	Het
Sspo	T	C	6: 48,429,436 (GRCm39)	V482A	probably benign	Het
St7l	C	T	3: 104,826,772 (GRCm39)	R377*	probably null	Het
Ttn	G	T	2: 76,585,727 (GRCm39)	P13643T	probably damaging	Het
Vcan	T	A	13: 89,836,794 (GRCm39)	T2917S	probably benign	Het

Other mutations in Med29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Med29	APN	7	28,090,266 (GRCm39)	missense	possibly damaging	0.95
IGL02383:Med29	APN	7	28,086,448 (GRCm39)	missense	possibly damaging	0.91
R0019:Med29	UTSW	7	28,090,501 (GRCm39)	splice site	probably benign
R0317:Med29	UTSW	7	28,086,284 (GRCm39)	missense	possibly damaging	0.48
R0349:Med29	UTSW	7	28,091,935 (GRCm39)	small deletion	probably benign
R1595:Med29	UTSW	7	28,091,928 (GRCm39)	missense	probably damaging	1.00
R1723:Med29	UTSW	7	28,092,130 (GRCm39)	start gained	probably benign
R3237:Med29	UTSW	7	28,092,046 (GRCm39)	unclassified	probably benign
R4700:Med29	UTSW	7	28,086,352 (GRCm39)	missense	possibly damaging	0.81
R5665:Med29	UTSW	7	28,086,239 (GRCm39)	missense	probably benign	0.02
R5870:Med29	UTSW	7	28,091,922 (GRCm39)	missense	probably damaging	1.00
R6013:Med29	UTSW	7	28,086,418 (GRCm39)	missense	probably benign	0.00
R9716:Med29	UTSW	7	28,086,308 (GRCm39)	missense	possibly damaging	0.71

Posted On

2014-01-21