Mutagenetix > Incidental Mutations

Incidental Mutation 'R1483:Med16'

165714

Institutional Source

Beutler Lab

Gene Symbol

Med16

Ensembl Gene

ENSMUSG00000013833

Gene Name

mediator complex subunit 16

Synonyms

Trap95, 95kDa, Thrap5

MMRRC Submission

039536-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1483 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

79894708-79908923 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79903100 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 284 (I284N)

Ref Sequence

ENSEMBL: ENSMUSP00000129375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105378
AA Change: I283N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: I283N

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
WD40	94	133	1.05e-7	SMART
Blast:WD40	143	169	4e-8	BLAST
low complexity region	206	217	N/A	INTRINSIC
WD40	226	267	1.53e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163125

Predicted Effect

probably benign
Transcript: ENSMUST00000164705

SMART Domains

Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	172	6.5e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165684
AA Change: I284N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: I284N

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
WD40	95	134	1.05e-7	SMART
Blast:WD40	144	170	4e-8	BLAST
low complexity region	207	218	N/A	INTRINSIC
WD40	227	268	1.53e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166964

SMART Domains

Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	59	98	1.05e-7	SMART
Pfam:Med16	108	162	2.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170375

Predicted Effect

probably benign
Transcript: ENSMUST00000170409

SMART Domains

Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	105	1.1e-9	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,903	S368T	probably damaging	Het
9930021J03Rik	G	A	19: 29,719,345	P916L	possibly damaging	Het
Adam12	T	A	7: 133,930,025	T494S	probably benign	Het
Akap6	C	T	12: 52,796,087	P73S	probably damaging	Het
Amotl2	A	T	9: 102,730,897	T763S	probably benign	Het
C87499	T	A	4: 88,628,834	Q116L	probably damaging	Het
Cdc5l	A	T	17: 45,408,364	V541D	possibly damaging	Het
Chl1	A	G	6: 103,647,287	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,954,770	E255G	probably benign	Het
Ddhd2	A	G	8: 25,753,128	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Drc3	A	G	11: 60,388,889	I427V	probably benign	Het
Drg2	T	C	11: 60,459,527	I104T	probably damaging	Het
Dst	C	T	1: 34,252,998	A932V	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Eif3a	A	T	19: 60,768,726	D880E	unknown	Het
Elf1	T	A	14: 79,580,638	D569E	probably benign	Het
Esp6	T	A	17: 40,562,925	M1K	probably null	Het
Fer1l6	T	C	15: 58,637,970	V1427A	possibly damaging	Het
Gm17689	G	A	9: 36,581,324	S95L	probably benign	Het
Gsta1	A	T	9: 78,242,493	K196M	probably damaging	Het
Gzme	T	A	14: 56,118,712	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,135,750	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,121,146	S2T	probably benign	Het
Hadhb	A	G	5: 30,169,494		probably null	Het
Hoxa11	G	T	6: 52,243,456	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,594,641	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,165,236	V88A	possibly damaging	Het
Knop1	C	T	7: 118,853,050	A149T	probably damaging	Het
Macf1	T	A	4: 123,510,977	K597I	probably damaging	Het
Melk	T	A	4: 44,308,937	I98K	probably damaging	Het
Mst1	G	T	9: 108,081,650	G127V	probably benign	Het
Nacad	A	G	11: 6,602,217	S325P	probably damaging	Het
Nbea	G	A	3: 56,002,790	P1328L	probably benign	Het
Nek5	C	T	8: 22,096,790	S335N	probably benign	Het
Nif3l1	C	A	1: 58,447,726	R24S	probably benign	Het
Nlrp14	T	G	7: 107,190,122	N39K	possibly damaging	Het
Nup50	T	A	15: 84,939,727	V427D	probably damaging	Het
Nwd1	C	T	8: 72,657,086	P78L	probably damaging	Het
Olfr1431	T	A	19: 12,209,750	Y61*	probably null	Het
Pnkd	A	G	1: 74,349,391	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,203,121	D423G	probably benign	Het
Prkci	A	T	3: 31,043,792	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,235,964	V494M	possibly damaging	Het
Rapgef4	T	G	2: 72,055,026		probably null	Het
Rbak	T	C	5: 143,174,344	E318G	probably damaging	Het
Rora	A	G	9: 69,364,385	D215G	probably benign	Het
Rp1l1	C	T	14: 64,029,047	T694I	possibly damaging	Het
Scrib	A	G	15: 76,057,922	L1032P	probably damaging	Het
Sectm1b	G	A	11: 121,055,826	T81M	probably benign	Het
Sgk3	T	C	1: 9,872,293	F97L	possibly damaging	Het
Socs3	A	T	11: 117,967,568	Y221*	probably null	Het
Tdrd6	T	A	17: 43,627,607	H850L	probably benign	Het
Tex44	G	T	1: 86,427,186	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 116,109,557	S426A	probably benign	Het
Tmem39b	T	C	4: 129,676,663	Y461C	probably damaging	Het
Ttn	T	A	2: 76,724,993	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,825,707		probably null	Het
Vmn2r70	T	C	7: 85,559,167	I701V	probably benign	Het
Vps39	A	T	2: 120,323,648	L622Q	probably damaging	Het
Wdfy4	T	A	14: 33,100,966	H1347L	probably benign	Het
Xpo1	A	G	11: 23,284,863	I540V	probably benign	Het
Xylt2	A	C	11: 94,669,567	M294R	probably benign	Het
Zfp788	T	G	7: 41,649,075	Y326*	probably null	Het
Zim1	A	G	7: 6,682,125	F109L	probably benign	Het

Other mutations in Med16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Med16	APN	10	79907625	start codon destroyed	probably null	0.62
IGL02328:Med16	APN	10	79907542	missense	probably damaging	1.00
IGL03123:Med16	APN	10	79896833	missense	probably damaging	1.00
R0139:Med16	UTSW	10	79896801	missense	probably benign	0.17
R0254:Med16	UTSW	10	79900200	missense	possibly damaging	0.94
R1458:Med16	UTSW	10	79907478	unclassified	probably benign
R1524:Med16	UTSW	10	79898316	missense	probably damaging	1.00
R1612:Med16	UTSW	10	79899245	missense	probably damaging	1.00
R1700:Med16	UTSW	10	79899335	missense	probably benign	0.10
R1900:Med16	UTSW	10	79898931	missense	probably damaging	1.00
R1960:Med16	UTSW	10	79907095	missense	possibly damaging	0.94
R2120:Med16	UTSW	10	79903082	missense	possibly damaging	0.63
R2895:Med16	UTSW	10	79903171	splice site	probably null
R4419:Med16	UTSW	10	79898382	missense	probably benign
R4794:Med16	UTSW	10	79900117	missense	probably damaging	1.00
R4970:Med16	UTSW	10	79907037	critical splice donor site	probably null
R4975:Med16	UTSW	10	79903005	missense	possibly damaging	0.93
R5724:Med16	UTSW	10	79895409	missense	probably damaging	1.00
R5926:Med16	UTSW	10	79902528	missense	probably damaging	0.99
R6185:Med16	UTSW	10	79896363	missense	probably damaging	1.00
R7097:Med16	UTSW	10	79903343	missense	probably damaging	1.00
R7346:Med16	UTSW	10	79908816	critical splice donor site	probably null
R7350:Med16	UTSW	10	79903197	missense	probably damaging	1.00
R7808:Med16	UTSW	10	79898418	missense	probably damaging	1.00
R7877:Med16	UTSW	10	79898372	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCAGCCAAGGGATGCAGATACTC -3'
(R):5'- AGGTCACAGAAGGATGCCTCCAAG -3'

Sequencing Primer
(F):5'- GATGCAGATACTCCCTGAGC -3'
(R):5'- TTCGGAGAGAAGTTCTCACG -3'

Posted On

2014-03-28