Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Med21'

422496

Institutional Source

Beutler Lab

Gene Symbol

Med21

Ensembl Gene

ENSMUSG00000030291

Gene Name

mediator complex subunit 21

Synonyms

0610007L03Rik, Srb7, D6Ertd782e, Surb7

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146544077-146552098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146550683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000145512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032429] [ENSMUST00000111650] [ENSMUST00000204040]

AlphaFold

Q9CQ39

Predicted Effect

probably benign
Transcript: ENSMUST00000032429
AA Change: T65A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032429
Gene: ENSMUSG00000030291
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:Med21	1	127	1.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075077

Predicted Effect

probably benign
Transcript: ENSMUST00000111650
AA Change: T65A

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

SMART Domains

Protein: ENSMUSP00000107277
Gene: ENSMUSG00000030291
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:Med21	1	90	8.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134387

Predicted Effect

probably benign
Transcript: ENSMUST00000204040
AA Change: T65A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145512
Gene: ENSMUSG00000030291
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:Med21	1	127	1.1e-29	PFAM

Meta Mutation Damage Score

0.0651

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die at the blastocyst stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	probably damaging	Het

Other mutations in Med21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02647:Med21	APN	6	146,550,731 (GRCm39)	missense	probably benign	0.44
IGL03369:Med21	APN	6	146,544,143 (GRCm39)	missense	probably benign	0.21
R0049:Med21	UTSW	6	146,551,732 (GRCm39)	missense	probably damaging	0.99
R0049:Med21	UTSW	6	146,551,732 (GRCm39)	missense	probably damaging	0.99
R0967:Med21	UTSW	6	146,551,697 (GRCm39)	missense	probably benign	0.02
R2106:Med21	UTSW	6	146,550,710 (GRCm39)	missense	probably damaging	1.00
R4403:Med21	UTSW	6	146,550,680 (GRCm39)	nonsense	probably null
R4675:Med21	UTSW	6	146,551,691 (GRCm39)	missense	probably damaging	0.97
R4747:Med21	UTSW	6	146,550,700 (GRCm39)	missense	possibly damaging	0.58
R4749:Med21	UTSW	6	146,551,599 (GRCm39)	splice site	probably null
R4855:Med21	UTSW	6	146,549,690 (GRCm39)	missense	probably damaging	1.00
R5117:Med21	UTSW	6	146,548,781 (GRCm39)	intron	probably benign
R7338:Med21	UTSW	6	146,544,082 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAAACATCTCATCTATGGATTCC -3'
(R):5'- GACAGAGTATTGACCTAGTATGTGAG -3'

Sequencing Primer
(F):5'- TACAGATGGTTGTGAGCCACC -3'
(R):5'- GTATGTGAGATCTTAGATTTGACCAC -3'

Posted On

2016-08-04