Mutagenetix > Incidental Mutation

Incidental Mutation 'R6858:Med22'

535351

Institutional Source

Beutler Lab

Gene Symbol

Med22

Ensembl Gene

ENSMUSG00000015776

Gene Name

mediator complex subunit 22

Synonyms

Surf-5, Surf5

MMRRC Submission

044960-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26795279-26800654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26795949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 157 (D157G)

Ref Sequence

ENSEMBL: ENSMUSP00000015920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015920] [ENSMUST00000047632] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000114043] [ENSMUST00000139815]

AlphaFold

Q62276

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015920
AA Change: D157G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776
AA Change: D157G

Domain	Start	End	E-Value	Type
Pfam:Med22	20	125	5.7e-40	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047632

SMART Domains

Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160

Domain	Start	End	E-Value	Type
low complexity region	45	54	N/A	INTRINSIC
Pfam:SURF6	135	342	1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102898

SMART Domains

Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	122	216	1.2e-25	PFAM
low complexity region	251	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102899

SMART Domains

Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	130	5.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114043

SMART Domains

Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160

Domain	Start	End	E-Value	Type
low complexity region	45	54	N/A	INTRINSIC
Pfam:SURF6	132	207	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139815

SMART Domains

Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	72	3e-14	PFAM
Pfam:Med22	96	166	2.7e-22	PFAM

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (49/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,538,796 (GRCm39)	T241A	probably benign	Het
Arid4a	A	G	12: 71,070,283 (GRCm39)	I65V	probably benign	Het
Bhmt2	C	T	13: 93,807,948 (GRCm39)	E47K	probably damaging	Het
Bpifa3	G	A	2: 153,979,514 (GRCm39)	G213D	probably benign	Het
C4b	C	G	17: 34,948,805 (GRCm39)	A1548P	probably damaging	Het
Ccdc39	A	G	3: 33,874,017 (GRCm39)	V605A	probably damaging	Het
Cept1	A	T	3: 106,420,195 (GRCm39)		probably null	Het
Cntrl	T	C	2: 35,052,107 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,385,144 (GRCm39)	D87G	probably damaging	Het
Crim1	A	T	17: 78,623,056 (GRCm39)	E418V	probably damaging	Het
Crtac1	T	C	19: 42,307,174 (GRCm39)	I196M	possibly damaging	Het
Crtap	T	C	9: 114,209,084 (GRCm39)	Y320C	probably damaging	Het
Cttnbp2	A	G	6: 18,448,452 (GRCm39)	V27A	probably damaging	Het
Cyp2c69	G	A	19: 39,866,009 (GRCm39)	L195F	probably benign	Het
Cyp2d26	G	A	15: 82,678,284 (GRCm39)	R31C	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fign	G	T	2: 63,810,157 (GRCm39)	T371K	probably benign	Het
Fryl	T	C	5: 73,222,375 (GRCm39)	T2069A	probably damaging	Het
Gm3486	A	G	14: 41,210,322 (GRCm39)	I53T	probably damaging	Het
Gprc5d	T	C	6: 135,093,313 (GRCm39)	N198S	possibly damaging	Het
Ighv1-42	A	G	12: 114,900,966 (GRCm39)	S40P	probably damaging	Het
Itga8	A	G	2: 12,204,892 (GRCm39)	V515A	probably benign	Het
Kidins220	A	T	12: 25,058,542 (GRCm39)	I523L	possibly damaging	Het
Lmx1a	A	T	1: 167,660,450 (GRCm39)	N245I	probably damaging	Het
Ola1	T	C	2: 72,927,574 (GRCm39)	H335R	probably damaging	Het
Or1a1	A	T	11: 74,086,925 (GRCm39)	M199L	probably benign	Het
Or4c12	A	G	2: 89,774,087 (GRCm39)	I124T	probably damaging	Het
Or6c213	A	G	10: 129,574,333 (GRCm39)	F151S	probably damaging	Het
Or7e166	T	C	9: 19,624,765 (GRCm39)	I214T	probably damaging	Het
Or8h9	A	G	2: 86,789,034 (GRCm39)	I256T	probably benign	Het
Pde1a	T	A	2: 79,959,502 (GRCm39)		probably benign	Het
Pdgfrb	G	A	18: 61,198,219 (GRCm39)	G304D	probably benign	Het
Potegl	T	C	2: 23,102,676 (GRCm39)	V138A	possibly damaging	Het
Prune2	T	A	19: 17,095,470 (GRCm39)	C325S	possibly damaging	Het
Ptk2b	T	C	14: 66,450,847 (GRCm39)	I40V	probably damaging	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Scn5a	T	C	9: 119,321,156 (GRCm39)	I1469V	probably benign	Het
Serpina3k	G	A	12: 104,311,504 (GRCm39)	A361T	possibly damaging	Het
Slc25a23	A	G	17: 57,365,171 (GRCm39)	Y73H	probably damaging	Het
Tmco3	A	G	8: 13,363,924 (GRCm39)	D82G	probably damaging	Het
Trbv28	G	T	6: 41,248,624 (GRCm39)	M51I	probably damaging	Het
Unc13b	A	T	4: 43,165,828 (GRCm39)	H204L	possibly damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn1r25	T	C	6: 57,955,996 (GRCm39)	S98G	probably benign	Het
Vmn2r2	A	G	3: 64,044,915 (GRCm39)	F77S	probably damaging	Het
Vmn2r79	A	T	7: 86,686,580 (GRCm39)	M654L	probably benign	Het
Zfp985	A	T	4: 147,667,764 (GRCm39)	K211*	probably null	Het
Zwilch	C	T	9: 64,060,869 (GRCm39)	D328N	probably damaging	Het

Other mutations in Med22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Med22	APN	2	26,799,004 (GRCm39)	critical splice donor site	probably null
R0681:Med22	UTSW	2	26,800,391 (GRCm39)	missense	probably benign	0.00
R3008:Med22	UTSW	2	26,798,396 (GRCm39)	unclassified	probably benign
R3831:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R3832:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R3833:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R7230:Med22	UTSW	2	26,798,223 (GRCm39)	missense	probably benign
R7852:Med22	UTSW	2	26,800,376 (GRCm39)	missense	probably damaging	1.00
R8722:Med22	UTSW	2	26,800,313 (GRCm39)	missense	probably benign
R9364:Med22	UTSW	2	26,795,821 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTGATAAACTAGGCCCTAGGG -3'
(R):5'- ATGCAAGAGTGGCCAGAACC -3'

Sequencing Primer
(F):5'- TGCAGACTGTAAGGGAC -3'
(R):5'- CCAGAACCGCTTAGCAGAGG -3'

Posted On

2018-09-12