Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Med6'

445462

Institutional Source

Beutler Lab

Gene Symbol

Med6

Ensembl Gene

ENSMUSG00000002679

Gene Name

mediator complex subunit 6

Synonyms

1500012F11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81620331-81641782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81626418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000002756 (fasta)

Gene Model

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

AlphaFold

Q921D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002756
AA Change: S119P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002756
Gene: ENSMUSG00000002679
AA Change: S119P

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

noncoding transcript
Transcript: ENSMUST00000160739

Predicted Effect

probably damaging
Transcript: ENSMUST00000161211
AA Change: S170P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125156
Gene: ENSMUSG00000002679
AA Change: S170P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161598

SMART Domains

Protein: ENSMUSP00000124361
Gene: ENSMUSG00000002679

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161902
AA Change: S119P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125103
Gene: ENSMUSG00000002679
AA Change: S119P

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

Meta Mutation Damage Score

0.1848

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	G	A	8: 105,524,271 (GRCm39)		noncoding transcript	Het
Abcg8	A	T	17: 84,994,127 (GRCm39)	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,911,406 (GRCm39)	T289A	probably benign	Het
Atf6	T	A	1: 170,574,758 (GRCm39)	D560V	probably damaging	Het
Bcl2l14	A	T	6: 134,404,362 (GRCm39)	K183N	probably damaging	Het
Carmil3	T	C	14: 55,730,696 (GRCm39)	L52P	probably damaging	Het
Cct3	T	A	3: 88,208,274 (GRCm39)	N61K	probably damaging	Het
Col18a1	A	G	10: 77,002,177 (GRCm39)	V10A	unknown	Het
Col26a1	G	A	5: 136,876,420 (GRCm39)	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,501,341 (GRCm39)	D329G	probably null	Het
Dchs1	T	A	7: 105,422,247 (GRCm39)	I58F	probably damaging	Het
Ddx60	T	C	8: 62,401,931 (GRCm39)	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,806,154 (GRCm39)	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,612,707 (GRCm39)	K2861*	probably null	Het
Ednra	A	G	8: 78,401,696 (GRCm39)	I198T	possibly damaging	Het
Ep300	T	C	15: 81,524,115 (GRCm39)		probably benign	Het
Fam120a	G	A	13: 49,034,409 (GRCm39)	P1068S	probably benign	Het
Fsip2	A	T	2: 82,815,084 (GRCm39)	M3606L	probably benign	Het
Garre1	A	T	7: 33,953,413 (GRCm39)	W238R	probably damaging	Het
Gm7713	T	C	15: 59,866,492 (GRCm39)		noncoding transcript	Het
Gprin3	A	T	6: 59,331,398 (GRCm39)	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,570,629 (GRCm39)	V2178D	possibly damaging	Het
Hoxa11	A	G	6: 52,222,380 (GRCm39)	V107A	possibly damaging	Het
Iqub	C	A	6: 24,454,250 (GRCm39)	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,879,258 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,161,818 (GRCm39)		probably benign	Het
Kalrn	A	T	16: 33,796,190 (GRCm39)	V1195E	probably damaging	Het
Kif12	C	A	4: 63,084,178 (GRCm39)	R608M	probably damaging	Het
Lcorl	A	T	5: 45,952,709 (GRCm39)		probably null	Het
Lrrc24	T	C	15: 76,606,910 (GRCm39)	E162G	probably damaging	Het
Mmab	A	C	5: 114,574,775 (GRCm39)	L166R	probably damaging	Het
Myef2l	A	G	3: 10,153,566 (GRCm39)	R112G	probably damaging	Het
Nom1	A	G	5: 29,651,873 (GRCm39)	K737R	possibly damaging	Het
Obscn	T	C	11: 58,946,970 (GRCm39)	S4352G	probably damaging	Het
Or10ag60	A	T	2: 87,438,517 (GRCm39)	T262S	probably benign	Het
Or2w25	T	A	11: 59,504,712 (GRCm39)	D307E	probably benign	Het
Or4k35	A	T	2: 111,100,057 (GRCm39)	Y218*	probably null	Het
Or6d12	A	C	6: 116,492,912 (GRCm39)	D58A	possibly damaging	Het
Pdzrn3	G	A	6: 101,149,275 (GRCm39)	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Prkdc	T	A	16: 15,597,252 (GRCm39)	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Resp18	A	G	1: 75,250,644 (GRCm39)	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,892,908 (GRCm39)	M259V	probably benign	Het
Rhot2	A	T	17: 26,058,781 (GRCm39)	S540T	probably benign	Het
Ring1	T	C	17: 34,241,282 (GRCm39)	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,137,265 (GRCm39)	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 32,873,255 (GRCm39)	L5F	unknown	Het
Slamf7	T	C	1: 171,466,838 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,590,479 (GRCm39)	N237S	possibly damaging	Het
Spen	A	T	4: 141,205,495 (GRCm39)	V1044D	unknown	Het
Sqor	A	T	2: 122,651,261 (GRCm39)	M175L	probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tars3	T	G	7: 65,333,873 (GRCm39)	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191 (GRCm39)	V1008A	probably benign	Het
Tmem145	A	G	7: 25,015,039 (GRCm39)	H554R	probably benign	Het
Trank1	A	T	9: 111,195,744 (GRCm39)	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,155,794 (GRCm39)	Y55C	possibly damaging	Het
Ttc23l	C	T	15: 10,551,555 (GRCm39)	C57Y	probably benign	Het
Uap1	A	T	1: 169,988,949 (GRCm39)	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,535,647 (GRCm39)		noncoding transcript	Het
Zfp629	T	A	7: 127,210,307 (GRCm39)	I501F	probably damaging	Het
Zfp820	T	C	17: 22,037,702 (GRCm39)	Y542C	probably damaging	Het

Other mutations in Med6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Med6	APN	12	81,626,348 (GRCm39)	missense	possibly damaging	0.95
R0607:Med6	UTSW	12	81,635,798 (GRCm39)	missense	probably damaging	1.00
R2020:Med6	UTSW	12	81,620,651 (GRCm39)	missense	probably benign
R3946:Med6	UTSW	12	81,628,625 (GRCm39)	missense	probably damaging	1.00
R4763:Med6	UTSW	12	81,629,435 (GRCm39)	missense	probably damaging	1.00
R5640:Med6	UTSW	12	81,628,628 (GRCm39)	missense	probably damaging	1.00
R5786:Med6	UTSW	12	81,620,733 (GRCm39)	missense	probably null	0.00
R6049:Med6	UTSW	12	81,638,097 (GRCm39)	missense	probably damaging	1.00
R6663:Med6	UTSW	12	81,628,649 (GRCm39)	missense	possibly damaging	0.67
R6886:Med6	UTSW	12	81,638,159 (GRCm39)	missense	probably damaging	1.00
R7127:Med6	UTSW	12	81,635,774 (GRCm39)	missense	probably damaging	0.97
R7919:Med6	UTSW	12	81,620,621 (GRCm39)	nonsense	probably null
R8158:Med6	UTSW	12	81,620,677 (GRCm39)	missense	probably benign	0.00
R8506:Med6	UTSW	12	81,641,734 (GRCm39)	start codon destroyed	probably null	0.14
R8795:Med6	UTSW	12	81,638,034 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCACTGAACAATGCTGAATCC -3'
(R):5'- TTGCAAAAGAGAGCTAGGAACTTC -3'

Sequencing Primer
(F):5'- GCACTGAACAATGCTGAATCCATTTC -3'
(R):5'- AAAGAGAGCTAGGAACTTCTTTTATG -3'

Posted On

2016-11-21