Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02148:Med19'

281861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med19

Ensembl Gene

ENSMUSG00000027080

Gene Name

mediator complex subunit 19

Synonyms

3110040A13Rik, 2410018M14Rik, LCMR1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

84508746-84518559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84515603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 96 (F96L)

Ref Sequence

ENSEMBL: ENSMUSP00000099705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035840] [ENSMUST00000102645]

AlphaFold

Q8C1S0

Predicted Effect

probably benign
Transcript: ENSMUST00000035840

SMART Domains

Protein: ENSMUSP00000048198
Gene: ENSMUSG00000034075

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
Pfam:zf-DHHC	99	224	1.6e-37	PFAM
low complexity region	312	318	N/A	INTRINSIC
low complexity region	359	373	N/A	INTRINSIC
low complexity region	422	432	N/A	INTRINSIC
low complexity region	581	597	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	698	708	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102645
AA Change: F96L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080
AA Change: F96L

Domain	Start	End	E-Value	Type
low complexity region	24	55	N/A	INTRINSIC
Pfam:Med19	63	234	4e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141595

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	C	T	4: 63,300,716 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,733,469 (GRCm39)	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,925,697 (GRCm39)	D355G	probably damaging	Het
Cdyl2	A	G	8: 117,315,983 (GRCm39)		probably benign	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Dclk1	T	A	3: 55,407,520 (GRCm39)	V233D	probably damaging	Het
Ddx59	T	C	1: 136,361,565 (GRCm39)	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,353,748 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,045,835 (GRCm39)	L453P	probably damaging	Het
Esco2	T	C	14: 66,064,044 (GRCm39)	H380R	probably benign	Het
Fbxo38	T	C	18: 62,669,298 (GRCm39)	M51V	probably benign	Het
Fgb	T	C	3: 82,950,594 (GRCm39)	M387V	probably damaging	Het
Fryl	A	G	5: 73,233,302 (GRCm39)	L1522S	probably benign	Het
Gdf9	T	A	11: 53,327,569 (GRCm39)	M175K	probably benign	Het
Gm20547	C	T	17: 35,079,524 (GRCm39)	D243N	probably benign	Het
Gramd1b	T	A	9: 40,227,060 (GRCm39)	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,522,671 (GRCm39)	Q186K	possibly damaging	Het
H2bl1	A	T	13: 99,120,691 (GRCm39)	F112I	probably damaging	Het
Katnip	A	T	7: 125,472,648 (GRCm39)		probably null	Het
Kcnh5	A	G	12: 74,944,426 (GRCm39)	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,960,253 (GRCm39)	D221G	possibly damaging	Het
Mei1	C	A	15: 81,976,912 (GRCm39)	S589*	probably null	Het
Myh15	G	T	16: 48,936,678 (GRCm39)	D708Y	probably damaging	Het
Naca	C	T	10: 127,879,753 (GRCm39)		probably benign	Het
Or5d43	A	T	2: 88,104,566 (GRCm39)	Y276N	possibly damaging	Het
Otog	G	A	7: 45,950,011 (GRCm39)	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,607,369 (GRCm39)	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,798,810 (GRCm39)	T369I	probably damaging	Het
Plekha8	A	G	6: 54,592,271 (GRCm39)	S32G	probably damaging	Het
Pramel25	T	A	4: 143,519,304 (GRCm39)	Y22N	probably benign	Het
Sema4g	A	G	19: 44,984,908 (GRCm39)	T113A	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 58,922,562 (GRCm39)	M546T	probably benign	Het
Slc27a5	A	G	7: 12,728,878 (GRCm39)	V328A	probably damaging	Het
Spef1	T	C	2: 131,014,688 (GRCm39)	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388 (GRCm39)	T179A	probably damaging	Het
Tmc5	T	C	7: 118,244,547 (GRCm39)	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488 (GRCm38)	Y621C	probably damaging	Het
Ttf1	T	C	2: 28,969,438 (GRCm39)	F727L	probably benign	Het
Tufm	T	C	7: 126,088,332 (GRCm39)	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,128,796 (GRCm39)	D146E	probably damaging	Het
Usp15	G	A	10: 122,963,742 (GRCm39)	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,521,747 (GRCm39)	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,776,395 (GRCm39)	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,838,013 (GRCm39)	C825G	probably damaging	Het
Zfp712	T	A	13: 67,190,222 (GRCm39)	I102F	probably damaging	Het

Other mutations in Med19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Med19	APN	2	84,509,007 (GRCm39)	critical splice donor site	probably null
IGL02378:Med19	APN	2	84,515,625 (GRCm39)	missense	probably damaging	1.00
R0965:Med19	UTSW	2	84,508,793 (GRCm39)	missense	probably damaging	0.96
R1935:Med19	UTSW	2	84,516,002 (GRCm39)	missense	possibly damaging	0.73
R2316:Med19	UTSW	2	84,516,587 (GRCm39)	missense	probably benign	0.15
R7857:Med19	UTSW	2	84,515,969 (GRCm39)	missense	probably damaging	1.00
R9032:Med19	UTSW	2	84,515,660 (GRCm39)	missense	probably damaging	0.97
R9035:Med19	UTSW	2	84,516,532 (GRCm39)	splice site	probably benign
R9278:Med19	UTSW	2	84,508,975 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16