Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Med12'

292407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med12

Ensembl Gene

ENSMUSG00000079487

Gene Name

mediator complex subunit 12

Synonyms

Tnrc11, Mopa, OPA-1, Trap230

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

100317636-100341071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100325396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 761 (V761A)

Ref Sequence

ENSEMBL: ENSMUSP00000112729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087948] [ENSMUST00000087956] [ENSMUST00000117203] [ENSMUST00000117706]

AlphaFold

A2AGH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000087948
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: V761A

Domain	Start	End	E-Value	Type
Med12	101	161	2.98e-24	SMART
low complexity region	273	282	N/A	INTRINSIC
Pfam:Med12-LCEWAV	287	758	1.5e-184	PFAM
low complexity region	1220	1231	N/A	INTRINSIC
low complexity region	1245	1267	N/A	INTRINSIC
low complexity region	1394	1412	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
low complexity region	1732	1774	N/A	INTRINSIC
low complexity region	1780	1794	N/A	INTRINSIC
Pfam:Med12-PQL	1821	2024	1.2e-79	PFAM
SCOP:d1bg1a1	2056	2129	3e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000087956
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: V761A

Domain	Start	End	E-Value	Type
Med12	101	161	2.98e-24	SMART
low complexity region	273	282	N/A	INTRINSIC
Pfam:Med12-LCEWAV	286	758	1.8e-213	PFAM
low complexity region	1220	1231	N/A	INTRINSIC
low complexity region	1245	1267	N/A	INTRINSIC
low complexity region	1394	1412	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
low complexity region	1732	1774	N/A	INTRINSIC
low complexity region	1780	1794	N/A	INTRINSIC
Pfam:Med12-PQL	1819	1970	1.5e-57	PFAM
Pfam:Med12-PQL	1968	2004	5.7e-18	PFAM
SCOP:d1bg1a1	2035	2108	4e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117203
AA Change: V761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: V761A

Domain	Start	End	E-Value	Type
Med12	101	161	2.98e-24	SMART
low complexity region	273	282	N/A	INTRINSIC
Pfam:Med12-LCEWAV	286	758	3.8e-214	PFAM
low complexity region	1220	1231	N/A	INTRINSIC
low complexity region	1245	1267	N/A	INTRINSIC
low complexity region	1394	1412	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
low complexity region	1732	1774	N/A	INTRINSIC
low complexity region	1780	1794	N/A	INTRINSIC
Pfam:Med12-PQL	1819	2025	1.5e-100	PFAM
SCOP:d1lsha3	2048	2107	4e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117706
AA Change: V761A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: V761A

Domain	Start	End	E-Value	Type
Med12	101	161	2.98e-24	SMART
low complexity region	273	282	N/A	INTRINSIC
Pfam:Med12-LCEWAV	286	758	3.7e-214	PFAM
low complexity region	1220	1231	N/A	INTRINSIC
low complexity region	1245	1267	N/A	INTRINSIC
low complexity region	1394	1412	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
low complexity region	1732	1774	N/A	INTRINSIC
low complexity region	1780	1794	N/A	INTRINSIC
Pfam:Med12-PQL	1819	1966	7.5e-63	PFAM
Pfam:Med12-PQL	1964	2000	1.1e-18	PFAM
SCOP:d1lsha3	2023	2082	4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156131

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
PHENOTYPE: Male chimeras hemizygous for a null allele arrest at E7.5 and lack anterior visceral endoderm. Male chimeras hemizygous for a hypomorphic allele die at E10.5 showing failure of neural crest cell migration and severe defects in neural tube closure, axis elongation, somitogenesis and heart formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,777,056 (GRCm39)	D124G	probably benign	Het
Adamts13	T	A	2: 26,879,295 (GRCm39)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,854,506 (GRCm39)		probably null	Het
Amy1	T	C	3: 113,357,234 (GRCm39)	I202V	probably benign	Het
Bdp1	G	A	13: 100,225,916 (GRCm39)	T322I	probably damaging	Het
Cep295	A	G	9: 15,264,316 (GRCm39)	L110S	probably damaging	Het
Cep72	T	C	13: 74,198,273 (GRCm39)	D369G	probably benign	Het
Chd3	A	T	11: 69,239,739 (GRCm39)		probably benign	Het
Ckmt2	G	A	13: 92,011,459 (GRCm39)		probably benign	Het
Cyp2s1	T	C	7: 25,507,562 (GRCm39)	T296A	probably damaging	Het
E2f5	T	A	3: 14,668,957 (GRCm39)	V283E	probably benign	Het
Eeig2	A	G	3: 108,887,608 (GRCm39)	Y219H	probably damaging	Het
F5	A	G	1: 164,019,498 (GRCm39)	T658A	probably damaging	Het
Gml	A	T	15: 74,688,289 (GRCm39)	Y59*	probably null	Het
Kmo	A	T	1: 175,476,889 (GRCm39)		probably benign	Het
Krt25	A	T	11: 99,213,398 (GRCm39)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,744,111 (GRCm39)	M773V	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mrpl19	T	C	6: 81,940,942 (GRCm39)	T150A	probably benign	Het
Muc2	G	T	7: 141,305,609 (GRCm39)	E646*	probably null	Het
Muc20	T	A	16: 32,615,051 (GRCm39)	T109S	unknown	Het
Nr2f6	T	C	8: 71,827,156 (GRCm39)	T382A	probably benign	Het
Nrap	A	G	19: 56,370,741 (GRCm39)	I172T	probably damaging	Het
Or5an1	A	G	19: 12,260,862 (GRCm39)	Y150C	probably benign	Het
Or8b47	T	C	9: 38,435,408 (GRCm39)	C127R	probably benign	Het
P3h1	A	T	4: 119,105,152 (GRCm39)	Q710L	probably benign	Het
Parvb	A	G	15: 84,177,016 (GRCm39)	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,484,645 (GRCm39)	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,592,983 (GRCm39)	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,326,272 (GRCm39)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,506,930 (GRCm39)	N284S	possibly damaging	Het
Reln	T	A	5: 22,176,949 (GRCm39)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,311,798 (GRCm39)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,804,239 (GRCm39)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,260,172 (GRCm39)		probably null	Het
Stx6	A	G	1: 155,069,059 (GRCm39)	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,391,509 (GRCm39)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,431,066 (GRCm39)		probably benign	Het
Tbx15	A	T	3: 99,259,826 (GRCm39)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,663,584 (GRCm39)	A99T	probably benign	Het
Tcf20	T	A	15: 82,737,660 (GRCm39)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,523,281 (GRCm39)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,288,726 (GRCm39)		probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Ulk1	T	C	5: 110,935,487 (GRCm39)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,804,033 (GRCm39)	I181V	probably benign	Het
Vmn2r66	G	A	7: 84,656,020 (GRCm39)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,688,453 (GRCm39)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,371,539 (GRCm39)	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,565,150 (GRCm39)	E573K	probably benign	Het
Zfp334	G	T	2: 165,223,771 (GRCm39)	Q91K	possibly damaging	Het

Other mutations in Med12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Med12	APN	X	100,324,792 (GRCm39)	missense	probably benign	0.02
IGL01122:Med12	APN	X	100,325,149 (GRCm39)	splice site	probably benign
IGL01331:Med12	APN	X	100,324,360 (GRCm39)	missense	possibly damaging	0.82
IGL01636:Med12	APN	X	100,318,795 (GRCm39)	missense	probably damaging	1.00
IGL02121:Med12	APN	X	100,331,948 (GRCm39)	splice site	probably benign
IGL02479:Med12	APN	X	100,340,598 (GRCm39)	unclassified	probably benign
IGL02597:Med12	APN	X	100,328,538 (GRCm39)	missense	probably damaging	1.00
IGL02904:Med12	APN	X	100,337,784 (GRCm39)	splice site	probably null
IGL03002:Med12	APN	X	100,339,461 (GRCm39)	missense	probably benign	0.00
IGL03006:Med12	APN	X	100,321,684 (GRCm39)	missense	probably damaging	1.00
IGL03366:Med12	APN	X	100,321,695 (GRCm39)	missense	probably benign	0.37
R3831:Med12	UTSW	X	100,339,498 (GRCm39)	missense	possibly damaging	0.49
R3833:Med12	UTSW	X	100,339,498 (GRCm39)	missense	possibly damaging	0.49
Z1176:Med12	UTSW	X	100,337,179 (GRCm39)	missense	possibly damaging	0.95
Z1176:Med12	UTSW	X	100,324,831 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16