Mutagenetix > Incidental Mutation

Incidental Mutation 'R9067:Med11'

689318

Institutional Source

Beutler Lab

Gene Symbol

Med11

Ensembl Gene

ENSMUSG00000018923

Gene Name

mediator complex subunit 11

Synonyms

1110030J09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9067 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70342745-70344553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70342910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000134323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019064] [ENSMUST00000019067] [ENSMUST00000126391] [ENSMUST00000151013]

AlphaFold

Q9D8C6

Predicted Effect

probably benign
Transcript: ENSMUST00000019064

SMART Domains

Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:SCY	32	94	1e-17	BLAST
transmembrane domain	201	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019067

SMART Domains

Protein: ENSMUSP00000019067
Gene: ENSMUSG00000018923

Domain	Start	End	E-Value	Type
Pfam:Med11	7	116	2.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126391

SMART Domains

Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920

Domain	Start	End	E-Value	Type
Blast:SCY	19	81	3e-18	BLAST
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151013
AA Change: T36A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134323
Gene: ENSMUSG00000018923
AA Change: T36A

Domain	Start	End	E-Value	Type
Pfam:Med11	8	126	4.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154475

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED11 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,522,493 (GRCm39)	D202A	probably damaging	Het
Aass	T	A	6: 23,077,123 (GRCm39)	R745S	probably benign	Het
Adamts14	C	T	10: 61,085,439 (GRCm39)	R195H	possibly damaging	Het
Afm	T	C	5: 90,671,674 (GRCm39)	F119L	probably benign	Het
Alox5ap	T	A	5: 149,222,190 (GRCm39)	V93E	probably damaging	Het
Ascl3	G	A	7: 109,327,104 (GRCm39)	P72S	probably benign	Het
Cacnb1	C	A	11: 97,896,131 (GRCm39)	D386Y	probably damaging	Het
Ccdc121rt3	T	G	5: 112,502,706 (GRCm39)	I333L	possibly damaging	Het
Cep350	T	C	1: 155,737,485 (GRCm39)	E2786G	probably benign	Het
Chd1	A	T	17: 15,951,107 (GRCm39)	K227N	possibly damaging	Het
Cyp4f13	C	G	17: 33,143,801 (GRCm39)	E508Q	probably damaging	Het
Dlgap1	T	A	17: 71,116,186 (GRCm39)	L843Q	probably damaging	Het
Elk4	T	G	1: 131,942,143 (GRCm39)	I5S	possibly damaging	Het
Erc1	A	T	6: 119,774,036 (GRCm39)	D306E	possibly damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Gdf2	A	T	14: 33,663,411 (GRCm39)	T102S	probably benign	Het
Glb1	A	G	9: 114,302,922 (GRCm39)	N586S	probably damaging	Het
Gm45861	T	A	8: 27,995,043 (GRCm39)	S472T	unknown	Het
Gm5800	G	A	14: 51,951,995 (GRCm39)	A89V	possibly damaging	Het
Gpalpp1	A	G	14: 76,344,792 (GRCm39)	S64P	probably damaging	Het
Hbq1a	T	C	11: 32,250,400 (GRCm39)	V63A	probably damaging	Het
Htr7	A	G	19: 36,034,490 (GRCm39)	V55A	probably benign	Het
Ica1	T	A	6: 8,667,362 (GRCm39)	D268V	probably benign	Het
Ipo8	T	C	6: 148,678,730 (GRCm39)	E956G	probably damaging	Het
Itprid2	G	A	2: 79,475,180 (GRCm39)	E380K	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kdr	T	C	5: 76,109,428 (GRCm39)	D983G	probably damaging	Het
Klhl23	C	G	2: 69,664,083 (GRCm39)	I477M	possibly damaging	Het
Kpna2	G	T	11: 106,882,039 (GRCm39)	H262Q	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrc17	G	A	5: 21,766,033 (GRCm39)	E172K	probably benign	Het
Lrrc45	A	T	11: 120,606,649 (GRCm39)	I184F	possibly damaging	Het
Mtf2	A	G	5: 108,252,133 (GRCm39)	D423G	probably benign	Het
Ndfip2	A	G	14: 105,525,157 (GRCm39)	D146G	probably benign	Het
Nfat5	A	G	8: 108,094,536 (GRCm39)	I926V	probably benign	Het
Paqr6	T	A	3: 88,273,328 (GRCm39)	S107T	probably damaging	Het
Pdgfrb	G	A	18: 61,201,291 (GRCm39)	S459N	probably null	Het
Pld5	T	A	1: 175,917,474 (GRCm39)	H153L	probably benign	Het
Pmfbp1	A	G	8: 110,263,244 (GRCm39)	R788G	possibly damaging	Het
Smok2a	A	C	17: 13,445,825 (GRCm39)	R467S	probably damaging	Het
Sncaip	A	C	18: 53,039,973 (GRCm39)	K722N	probably damaging	Het
Sycp2	A	G	2: 177,989,214 (GRCm39)		probably null	Het
Syne2	T	A	12: 75,950,994 (GRCm39)	W382R	probably damaging	Het
Tiam2	T	C	17: 3,561,407 (GRCm39)	V1324A	probably damaging	Het
Tmem120b	A	T	5: 123,236,307 (GRCm39)	I47F	probably damaging	Het
Tubg2	G	A	11: 101,049,957 (GRCm39)	C201Y	probably damaging	Het
Umodl1	A	G	17: 31,192,677 (GRCm39)	E268G	probably damaging	Het
Zfyve26	T	G	12: 79,318,915 (GRCm39)	D1141A	probably damaging	Het

Other mutations in Med11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0612:Med11	UTSW	11	70,342,910 (GRCm39)	missense	probably benign
R0690:Med11	UTSW	11	70,344,052 (GRCm39)	missense	possibly damaging	0.85
R2254:Med11	UTSW	11	70,342,921 (GRCm39)	critical splice donor site	probably null
R4715:Med11	UTSW	11	70,344,022 (GRCm39)	missense	probably benign	0.13
R5580:Med11	UTSW	11	70,342,891 (GRCm39)	critical splice donor site	probably null
R5712:Med11	UTSW	11	70,344,058 (GRCm39)	missense	probably damaging	0.98
R5816:Med11	UTSW	11	70,343,111 (GRCm39)	missense	probably damaging	1.00
R6576:Med11	UTSW	11	70,343,996 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCATCCTGGGAATTGTAGTG -3'
(R):5'- GGAGCCGCTCGTTAGTCTTTTC -3'

Sequencing Primer
(F):5'- GGCGCACATTAACAGGCATTTC -3'
(R):5'- CGTTAGTCTTTTCCTTGGACAG -3'

Posted On

2021-11-19