Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Med6'

526879

Institutional Source

Beutler Lab

Gene Symbol

Med6

Ensembl Gene

ENSMUSG00000002679

Gene Name

mediator complex subunit 6

Synonyms

1500012F11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81573557-81595008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81581875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 80 (D80V)

Ref Sequence

ENSEMBL: ENSMUSP00000002756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002756] [ENSMUST00000161211] [ENSMUST00000161598] [ENSMUST00000161902]

AlphaFold

Q921D4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002756
AA Change: D80V

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002756
Gene: ENSMUSG00000002679
AA Change: D80V

Domain	Start	End	E-Value	Type
Pfam:Med6	1	90	9.6e-32	PFAM
low complexity region	165	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159187

Predicted Effect

probably benign
Transcript: ENSMUST00000161211
AA Change: D131V

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125156
Gene: ENSMUSG00000002679
AA Change: D131V

Domain	Start	End	E-Value	Type
Pfam:Med6	13	140	1.8e-46	PFAM
low complexity region	216	227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161598
AA Change: D131V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124361
Gene: ENSMUSG00000002679
AA Change: D131V

Domain	Start	End	E-Value	Type
Pfam:Med6	13	141	1.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161902
AA Change: D80V

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125103
Gene: ENSMUSG00000002679
AA Change: D80V

Domain	Start	End	E-Value	Type
Pfam:Med6	1	90	3.4e-32	PFAM

Meta Mutation Damage Score

0.1935

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	possibly damaging	Het

Other mutations in Med6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Med6	APN	12	81579574	missense	possibly damaging	0.95
R0607:Med6	UTSW	12	81589024	missense	probably damaging	1.00
R2020:Med6	UTSW	12	81573877	missense	probably benign
R3946:Med6	UTSW	12	81581851	missense	probably damaging	1.00
R4763:Med6	UTSW	12	81582661	missense	probably damaging	1.00
R5640:Med6	UTSW	12	81581854	missense	probably damaging	1.00
R5772:Med6	UTSW	12	81579644	missense	probably damaging	1.00
R5786:Med6	UTSW	12	81573959	missense	probably null	0.00
R6049:Med6	UTSW	12	81591323	missense	probably damaging	1.00
R6886:Med6	UTSW	12	81591385	missense	probably damaging	1.00
R7127:Med6	UTSW	12	81589000	missense	probably damaging	0.97
R7919:Med6	UTSW	12	81573847	nonsense	probably null
R8158:Med6	UTSW	12	81573903	missense	probably benign	0.00
R8506:Med6	UTSW	12	81594960	start codon destroyed	probably null	0.14
R8795:Med6	UTSW	12	81591260	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CGCAATGCCATCACCTTCTG -3'
(R):5'- TGAGTCTGCCTGAATAACTACAGTC -3'

Sequencing Primer
(F):5'- GCCATCACCTTCTGAAAAATTAAAAC -3'
(R):5'- ATCCCTTGCAGATACTGAAGG -3'

Posted On

2018-07-23