Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Med16'

161896

Institutional Source

Beutler Lab

Gene Symbol

Med16

Ensembl Gene

ENSMUSG00000013833

Gene Name

mediator complex subunit 16

Synonyms

Trap95, 95kDa, Thrap5

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1458 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

79894708-79908923 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 79907478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409] [ENSMUST00000171416] [ENSMUST00000181321] [ENSMUST00000218970]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045628

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	1.2e-35	PFAM
Pfam:R3H	181	244	7.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105378

SMART Domains

Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

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

probably benign
Transcript: ENSMUST00000165684

SMART Domains

Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171416

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	4.9e-39	PFAM
Pfam:R3H	183	243	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178620

Predicted Effect

probably benign
Transcript: ENSMUST00000181321

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219358

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761 (GRCm38)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858 (GRCm38)		noncoding transcript	Het
Abce1	T	C	8: 79,707,235 (GRCm38)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788 (GRCm38)		probably benign	Het
Adamts13	T	A	2: 26,988,354 (GRCm38)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320 (GRCm38)	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591 (GRCm38)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,353,693 (GRCm38)	S168C	probably damaging	Het
Akap3	A	T	6: 126,865,554 (GRCm38)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663 (GRCm38)	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998 (GRCm38)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,789,558 (GRCm38)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,387,951 (GRCm38)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872 (GRCm38)	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737 (GRCm38)		probably benign	Het
Cmya5	T	A	13: 93,065,327 (GRCm38)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224 (GRCm38)		probably null	Het
D230025D16Rik	T	C	8: 105,246,556 (GRCm38)		probably null	Het
Dchs1	G	T	7: 105,755,244 (GRCm38)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487 (GRCm38)		probably benign	Het
Drd2	G	A	9: 49,402,212 (GRCm38)	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764 (GRCm38)	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713 (GRCm38)	M28L	probably benign	Het
Edar	A	T	10: 58,607,366 (GRCm38)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123 (GRCm38)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929 (GRCm38)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549 (GRCm38)		probably null	Het
Fgl1	C	G	8: 41,210,459 (GRCm38)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733 (GRCm38)	V689A	probably benign	Het
Fry	T	A	5: 150,380,859 (GRCm38)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213 (GRCm38)	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050 (GRCm38)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892 (GRCm38)	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466 (GRCm38)		probably benign	Het
Gm7534	T	C	4: 134,196,833 (GRCm38)	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229 (GRCm38)	S494R	unknown	Het
Gria2	A	T	3: 80,732,045 (GRCm38)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122 (GRCm38)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729 (GRCm38)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036 (GRCm38)		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047 (GRCm38)		probably benign	Het
Hmcn1	G	A	1: 150,609,700 (GRCm38)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192 (GRCm38)	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124 (GRCm38)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156 (GRCm38)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372 (GRCm38)	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487 (GRCm38)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466 (GRCm38)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317 (GRCm38)	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859 (GRCm38)	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385 (GRCm38)		probably benign	Het
Mcpt1	T	A	14: 56,019,164 (GRCm38)		probably benign	Het
Med13l	T	C	5: 118,738,459 (GRCm38)	M900T	probably benign	Het
Megf6	G	T	4: 154,177,121 (GRCm38)	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672 (GRCm38)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772 (GRCm38)	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304 (GRCm38)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808 (GRCm38)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982 (GRCm38)		probably benign	Het
Myo1a	C	A	10: 127,719,937 (GRCm38)	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044 (GRCm38)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746 (GRCm38)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,665,267 (GRCm38)		probably benign	Het
Odf3l2	A	T	10: 79,645,558 (GRCm38)		probably benign	Het
Olfr1362	C	T	13: 21,611,822 (GRCm38)	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676 (GRCm38)	E11V	probably null	Het
P4hb	A	G	11: 120,562,555 (GRCm38)		probably benign	Het
Papss1	T	G	3: 131,605,854 (GRCm38)	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708 (GRCm38)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190 (GRCm38)	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813 (GRCm38)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115 (GRCm38)	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337 (GRCm38)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631 (GRCm38)		probably benign	Het
Ppp2r3a	A	G	9: 101,211,312 (GRCm38)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,883,601 (GRCm38)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638 (GRCm38)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725 (GRCm38)	I155N	probably benign	Het
Prom1	T	C	5: 44,032,932 (GRCm38)		probably benign	Het
Psg25	C	T	7: 18,529,587 (GRCm38)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029 (GRCm38)	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022 (GRCm38)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932 (GRCm38)	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843 (GRCm38)		probably null	Het
Spink5	C	A	18: 44,007,719 (GRCm38)	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915 (GRCm38)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762 (GRCm38)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185 (GRCm38)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068 (GRCm38)		probably null	Het
Tubb1	T	A	2: 174,450,803 (GRCm38)		probably null	Het
Upf1	T	C	8: 70,344,254 (GRCm38)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984 (GRCm38)	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656 (GRCm38)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827 (GRCm38)	N101I	probably damaging	Het

Other mutations in Med16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Med16	APN	10	79,907,625 (GRCm38)	start codon destroyed	probably null	0.62
IGL02328:Med16	APN	10	79,907,542 (GRCm38)	missense	probably damaging	1.00
IGL03123:Med16	APN	10	79,896,833 (GRCm38)	missense	probably damaging	1.00
R0139:Med16	UTSW	10	79,896,801 (GRCm38)	missense	probably benign	0.17
R0254:Med16	UTSW	10	79,900,200 (GRCm38)	missense	possibly damaging	0.94
R1483:Med16	UTSW	10	79,903,100 (GRCm38)	missense	possibly damaging	0.88
R1524:Med16	UTSW	10	79,898,316 (GRCm38)	missense	probably damaging	1.00
R1612:Med16	UTSW	10	79,899,245 (GRCm38)	missense	probably damaging	1.00
R1700:Med16	UTSW	10	79,899,335 (GRCm38)	missense	probably benign	0.10
R1900:Med16	UTSW	10	79,898,931 (GRCm38)	missense	probably damaging	1.00
R1960:Med16	UTSW	10	79,907,095 (GRCm38)	missense	possibly damaging	0.94
R2120:Med16	UTSW	10	79,903,082 (GRCm38)	missense	possibly damaging	0.63
R2895:Med16	UTSW	10	79,903,171 (GRCm38)	splice site	probably null
R4419:Med16	UTSW	10	79,898,382 (GRCm38)	missense	probably benign
R4794:Med16	UTSW	10	79,900,117 (GRCm38)	missense	probably damaging	1.00
R4970:Med16	UTSW	10	79,907,037 (GRCm38)	critical splice donor site	probably null
R4975:Med16	UTSW	10	79,903,005 (GRCm38)	missense	possibly damaging	0.93
R5724:Med16	UTSW	10	79,895,409 (GRCm38)	missense	probably damaging	1.00
R5926:Med16	UTSW	10	79,902,528 (GRCm38)	missense	probably damaging	0.99
R6185:Med16	UTSW	10	79,896,363 (GRCm38)	missense	probably damaging	1.00
R7097:Med16	UTSW	10	79,903,343 (GRCm38)	missense	probably damaging	1.00
R7346:Med16	UTSW	10	79,908,816 (GRCm38)	critical splice donor site	probably null
R7350:Med16	UTSW	10	79,903,197 (GRCm38)	missense	probably damaging	1.00
R7808:Med16	UTSW	10	79,898,418 (GRCm38)	missense	probably damaging	1.00
R7877:Med16	UTSW	10	79,898,372 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAAGCTCCGCCATGCTGCTAGTC -3'
(R):5'- GCTCTCGCTGGAGAACATTCTAGAC -3'

Sequencing Primer
(F):5'- GCAGCCACATGTCTTAACATTG -3'
(R):5'- AGCTGCTATAGAGCACTGC -3'

Posted On

2014-03-14