Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Med12'

295106

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 #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

100317636-100341071 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 100340598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065858] [ENSMUST00000087948] [ENSMUST00000087956] [ENSMUST00000117203] [ENSMUST00000117706] [ENSMUST00000118111] [ENSMUST00000130555] [ENSMUST00000151528]

AlphaFold

A2AGH6

Predicted Effect

probably benign
Transcript: ENSMUST00000065858

SMART Domains

Protein: ENSMUSP00000066304
Gene: ENSMUSG00000031302

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	601	2.3e-194	PFAM
Pfam:Abhydrolase_3	180	342	1.7e-7	PFAM
transmembrane domain	685	707	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000087948
AA Change: Q2174L

SMART Domains

Protein: ENSMUSP00000085260
Gene: ENSMUSG00000079487
AA Change: Q2174L

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

unknown
Transcript: ENSMUST00000087956
AA Change: Q2153L

SMART Domains

Protein: ENSMUSP00000085269
Gene: ENSMUSG00000079487
AA Change: Q2153L

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

noncoding transcript
Transcript: ENSMUST00000113671

Predicted Effect

unknown
Transcript: ENSMUST00000117203
AA Change: Q2166L

SMART Domains

Protein: ENSMUSP00000112729
Gene: ENSMUSG00000079487
AA Change: Q2166L

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

unknown
Transcript: ENSMUST00000117706
AA Change: Q2141L

SMART Domains

Protein: ENSMUSP00000112852
Gene: ENSMUSG00000079487
AA Change: Q2141L

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

probably benign
Transcript: ENSMUST00000118111

SMART Domains

Protein: ENSMUSP00000113863
Gene: ENSMUSG00000031302

Domain	Start	End	E-Value	Type
Pfam:COesterase	3	487	3.6e-161	PFAM
Pfam:Abhydrolase_3	66	232	2.4e-7	PFAM
transmembrane domain	571	593	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147443

Predicted Effect

probably benign
Transcript: ENSMUST00000130555

SMART Domains

Protein: ENSMUSP00000122213
Gene: ENSMUSG00000031302

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	510	4.6e-179	PFAM
Pfam:Abhydrolase_3	160	323	1.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151528

SMART Domains

Protein: ENSMUSP00000123283
Gene: ENSMUSG00000031302

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	621	3.4e-207	PFAM
Pfam:Abhydrolase_3	200	363	1.2e-6	PFAM
transmembrane domain	705	727	N/A	INTRINSIC

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably 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
IGL02415:Med12	APN	X	100,325,396 (GRCm39)	missense	probably damaging	1.00
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