Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Med19'

687111

Institutional Source

Beutler Lab

Gene Symbol

Med19

Ensembl Gene

ENSMUSG00000027080

Gene Name

mediator complex subunit 19

Synonyms

3110040A13Rik, 2410018M14Rik, LCMR1

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84508746-84518559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84515660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 115 (M115V)

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: M115V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080
AA Change: M115V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Pnma1	T	C	12: 84,193,806 (GRCm39)	N299S	probably benign	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Wt1	C	A	2: 104,957,160 (GRCm39)	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,672,650 (GRCm39)	F204L	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Med19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Med19	APN	2	84,515,603 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTCTGAGTTACTAACAGAAAGT -3'
(R):5'- GGTCCAGGTGAGTAGAGAAAATCCT -3'

Sequencing Primer
(F):5'- GTTTTCTAGGCAGCACAG -3'
(R):5'- GAAAGCTACCTCATGCCTTTCAGG -3'

Posted On

2021-11-19