Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Med17'

294228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med17

Ensembl Gene

ENSMUSG00000031935

Gene Name

mediator complex subunit 17

Synonyms

Crsp6, C330002H14Rik, Trap80

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

15171647-15191227 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 15188963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 101 (R101*)

Ref Sequence

ENSEMBL: ENSMUSP00000034411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034411] [ENSMUST00000216406]

AlphaFold

Q8VCD5

Predicted Effect

probably null
Transcript: ENSMUST00000034411
AA Change: R101*

SMART Domains

Protein: ENSMUSP00000034411
Gene: ENSMUSG00000031935
AA Change: R101*

Domain	Start	End	E-Value	Type
low complexity region	51	82	N/A	INTRINSIC
Pfam:Med17	123	452	8.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213356

Predicted Effect

probably benign
Transcript: ENSMUST00000216406

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,187,377 (GRCm39)	K894R	probably benign	Het
Ampd1	C	T	3: 102,986,357 (GRCm39)	A12V	probably benign	Het
Ano4	T	A	10: 88,860,843 (GRCm39)	D345V	possibly damaging	Het
Arl6	A	G	16: 59,441,580 (GRCm39)		probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrn	C	T	2: 130,862,897 (GRCm39)	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,743,788 (GRCm39)	V238A	probably benign	Het
Cdh16	T	C	8: 105,348,606 (GRCm39)	T141A	probably damaging	Het
Cetn4	T	C	3: 37,363,305 (GRCm39)	D102G	probably damaging	Het
Col5a3	T	A	9: 20,688,292 (GRCm39)	N1256I	unknown	Het
Cyfip2	A	G	11: 46,112,225 (GRCm39)	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,250,490 (GRCm39)	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,731,990 (GRCm39)	S336A	probably damaging	Het
Dnah8	G	A	17: 31,049,819 (GRCm39)	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,478,694 (GRCm39)	V59A	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
F2	A	T	2: 91,463,332 (GRCm39)	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,666,660 (GRCm39)	R171H	probably damaging	Het
Fhod3	A	C	18: 25,199,332 (GRCm39)	S668R	probably benign	Het
Fkbp10	T	A	11: 100,306,843 (GRCm39)	F78L	probably damaging	Het
Garre1	T	C	7: 33,947,643 (GRCm39)	D455G	probably damaging	Het
Hyi	C	T	4: 118,219,810 (GRCm39)	R254C	probably benign	Het
Igfl3	A	T	7: 17,915,659 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,146,713 (GRCm39)	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,322,101 (GRCm39)	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,760,716 (GRCm39)	H115L	probably benign	Het
Mrpl15	T	C	1: 4,855,837 (GRCm39)	S22G	probably benign	Het
Nf1	T	C	11: 79,456,761 (GRCm39)	Y616H	possibly damaging	Het
Nf1	T	A	11: 79,302,502 (GRCm39)		probably benign	Het
Olig1	C	A	16: 91,067,041 (GRCm39)	Q93K	probably damaging	Het
Or13d1	T	A	4: 52,971,263 (GRCm39)	I214N	probably damaging	Het
Or1o1	A	T	17: 37,716,986 (GRCm39)	L182F	probably benign	Het
Or4f59	A	T	2: 111,873,056 (GRCm39)	V107E	possibly damaging	Het
Otoa	C	A	7: 120,730,590 (GRCm39)	L597M	possibly damaging	Het
Parp16	C	T	9: 65,141,051 (GRCm39)	P207L	possibly damaging	Het
Pbrm1	T	A	14: 30,754,467 (GRCm39)	D162E	probably benign	Het
Pramel21	T	A	4: 143,341,895 (GRCm39)	M108K	probably benign	Het
Prdm10	A	G	9: 31,264,685 (GRCm39)	I658V	possibly damaging	Het
Psg21	A	T	7: 18,386,556 (GRCm39)	H143Q	probably benign	Het
Rfx4	C	T	10: 84,676,014 (GRCm39)	R28W	probably damaging	Het
Sart1	T	G	19: 5,430,489 (GRCm39)	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,670,548 (GRCm39)	D565E	probably benign	Het
Smyd4	T	A	11: 75,278,332 (GRCm39)		probably null	Het
Sned1	T	C	1: 93,189,386 (GRCm39)	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,027,399 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,697,534 (GRCm39)	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,819,427 (GRCm39)	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,216,212 (GRCm39)	V178I	possibly damaging	Het
Usp13	T	A	3: 32,985,865 (GRCm39)	Y175*	probably null	Het
Vwde	A	G	6: 13,190,684 (GRCm39)	V469A	probably damaging	Het

Other mutations in Med17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Med17	APN	9	15,190,917 (GRCm39)	missense	probably benign	0.19
IGL02263:Med17	APN	9	15,178,772 (GRCm39)	missense	probably damaging	0.98
IGL02391:Med17	APN	9	15,188,963 (GRCm39)	nonsense	probably null
IGL02392:Med17	APN	9	15,188,963 (GRCm39)	nonsense	probably null
IGL02393:Med17	APN	9	15,188,963 (GRCm39)	nonsense	probably null
IGL02591:Med17	APN	9	15,181,657 (GRCm39)	missense	probably damaging	1.00
IGL02635:Med17	APN	9	15,185,845 (GRCm39)	missense	probably damaging	1.00
IGL02745:Med17	APN	9	15,176,642 (GRCm39)	splice site	probably benign
IGL02815:Med17	APN	9	15,173,563 (GRCm39)	missense	probably damaging	1.00
IGL02897:Med17	APN	9	15,178,830 (GRCm39)	missense	probably damaging	1.00
R1448:Med17	UTSW	9	15,187,139 (GRCm39)	splice site	probably null
R2912:Med17	UTSW	9	15,187,210 (GRCm39)	missense	probably damaging	1.00
R2937:Med17	UTSW	9	15,187,187 (GRCm39)	missense	probably damaging	0.99
R3715:Med17	UTSW	9	15,175,062 (GRCm39)	splice site	probably benign
R4175:Med17	UTSW	9	15,178,765 (GRCm39)	missense	possibly damaging	0.93
R4557:Med17	UTSW	9	15,182,993 (GRCm39)	missense	possibly damaging	0.86
R4701:Med17	UTSW	9	15,181,656 (GRCm39)	missense	probably damaging	1.00
R4865:Med17	UTSW	9	15,176,668 (GRCm39)	nonsense	probably null
R5169:Med17	UTSW	9	15,188,900 (GRCm39)	missense	probably benign	0.03
R5510:Med17	UTSW	9	15,181,700 (GRCm39)	missense	probably benign
R6326:Med17	UTSW	9	15,190,854 (GRCm39)	missense	probably benign	0.32
R6393:Med17	UTSW	9	15,185,879 (GRCm39)	missense	probably damaging	1.00
R6598:Med17	UTSW	9	15,182,996 (GRCm39)	missense	probably benign	0.29
R7722:Med17	UTSW	9	15,182,987 (GRCm39)	missense	probably benign	0.01
R8181:Med17	UTSW	9	15,188,928 (GRCm39)	missense	possibly damaging	0.75
R8348:Med17	UTSW	9	15,173,735 (GRCm39)	critical splice acceptor site	probably null
R8377:Med17	UTSW	9	15,173,655 (GRCm39)	missense	probably damaging	1.00
R8448:Med17	UTSW	9	15,173,735 (GRCm39)	critical splice acceptor site	probably null
R8754:Med17	UTSW	9	15,188,896 (GRCm39)	missense	possibly damaging	0.73
R9409:Med17	UTSW	9	15,176,695 (GRCm39)	missense	probably benign	0.00
R9655:Med17	UTSW	9	15,176,719 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16