Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02383:Med29'

291471

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 #

IGL02383

Quality Score

Status

Chromosome

Chromosomal Location

28085571-28092133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28086448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 120 (R120L)

Ref Sequence

ENSEMBL: ENSMUSP00000003536 (fasta)

Gene Model

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

AlphaFold

Q9DB91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003536
AA Change: R120L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003536
Gene: ENSMUSG00000003444
AA Change: R120L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208885

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	C	6: 133,269,205 (GRCm39)		probably benign	Het
Adap2	C	A	11: 80,051,015 (GRCm39)	A115D	probably damaging	Het
Ankrd1	A	G	19: 36,097,165 (GRCm39)	V6A	probably benign	Het
Apobr	T	A	7: 126,185,779 (GRCm39)	V430E	probably benign	Het
Arhgap28	A	G	17: 68,203,084 (GRCm39)	V123A	probably benign	Het
Atp2b2	A	G	6: 113,790,903 (GRCm39)	V167A	probably damaging	Het
B3galnt2	A	T	13: 14,171,618 (GRCm39)	*505C	probably null	Het
Bcat2	T	A	7: 45,237,431 (GRCm39)	L305Q	probably damaging	Het
Coa8	T	A	12: 111,690,847 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,224,339 (GRCm39)	S174P	unknown	Het
Ddx41	A	T	13: 55,680,170 (GRCm39)	D418E	probably benign	Het
Defa40	A	G	8: 21,740,377 (GRCm39)	D61G	probably damaging	Het
Exoc6	T	C	19: 37,566,922 (GRCm39)	F240L	probably benign	Het
Fbln7	G	A	2: 128,737,477 (GRCm39)	V431I	probably benign	Het
Gfral	T	A	9: 76,104,374 (GRCm39)	N213Y	probably damaging	Het
Golgb1	A	G	16: 36,706,562 (GRCm39)	D22G	probably benign	Het
H2-M1	G	A	17: 36,981,141 (GRCm39)	T298I	unknown	Het
Haus3	A	T	5: 34,323,580 (GRCm39)	Y343*	probably null	Het
Hid1	T	C	11: 115,243,446 (GRCm39)	E534G	probably damaging	Het
Il4ra	T	C	7: 125,170,676 (GRCm39)	V196A	probably benign	Het
Itm2b	C	A	14: 73,600,536 (GRCm39)	E255*	probably null	Het
Kidins220	A	T	12: 25,047,332 (GRCm39)		probably benign	Het
Klhl22	T	A	16: 17,594,762 (GRCm39)	F297Y	possibly damaging	Het
Krt9	T	C	11: 100,082,041 (GRCm39)	E253G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Map3k6	T	A	4: 132,973,932 (GRCm39)		probably null	Het
Napa	C	T	7: 15,846,503 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,961,624 (GRCm39)	Y351N	probably benign	Het
Nphs1	C	T	7: 30,181,060 (GRCm39)		probably benign	Het
Or5b94	A	G	19: 12,651,899 (GRCm39)	D110G	probably benign	Het
Prss16	T	C	13: 22,193,697 (GRCm39)	I33V	probably benign	Het
Ripk1	A	G	13: 34,199,227 (GRCm39)	Y193C	probably damaging	Het
Rph3a	C	T	5: 121,102,002 (GRCm39)	R78H	probably damaging	Het
Rrp9	T	A	9: 106,362,471 (GRCm39)	I452N	probably damaging	Het
Ryr2	A	T	13: 11,737,607 (GRCm39)		probably benign	Het
Sec23a	A	G	12: 59,048,813 (GRCm39)	L103P	probably damaging	Het
Slc17a9	A	C	2: 180,377,674 (GRCm39)	D190A	probably benign	Het
Slc44a4	G	A	17: 35,146,686 (GRCm39)	V422I	probably benign	Het
Smc5	C	T	19: 23,191,996 (GRCm39)		probably benign	Het
Tax1bp1	C	T	6: 52,730,351 (GRCm39)	S611F	probably benign	Het
Tmem38b	G	A	4: 53,854,345 (GRCm39)	M192I	probably benign	Het
Unc45a	G	T	7: 79,989,410 (GRCm39)	C34*	probably null	Het
Usp46	T	A	5: 74,190,014 (GRCm39)	M6L	probably benign	Het
Uspl1	G	A	5: 149,150,212 (GRCm39)	V471M	probably damaging	Het
Vmn1r35	T	A	6: 66,655,875 (GRCm39)	Q265L	probably damaging	Het
Vmn1r35	G	T	6: 66,655,876 (GRCm39)	Q265K	probably damaging	Het
Vmn1r50	A	G	6: 90,084,461 (GRCm39)	I69V	possibly damaging	Het
Vps33b	A	G	7: 79,935,082 (GRCm39)		probably null	Het
Xntrpc	A	C	7: 101,742,802 (GRCm39)	D604A	probably damaging	Het
Yeats4	T	A	10: 117,051,716 (GRCm39)	R180S	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
IGL01644:Med29	APN	7	28,090,272 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16