Mutagenetix > Incidental Mutation

Incidental Mutation 'R0167:Med25'

24225

Institutional Source

Beutler Lab

Gene Symbol

Med25

Ensembl Gene

ENSMUSG00000002968

Gene Name

mediator complex subunit 25

Synonyms

ESTM2, 2610034E13Rik, 2610529E18Rik

MMRRC Submission

038443-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0167 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

44526189-44542136 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 44532521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000207278] [ENSMUST00000207654] [ENSMUST00000207788] [ENSMUST00000208253] [ENSMUST00000207848] [ENSMUST00000208551] [ENSMUST00000208556]

AlphaFold

Q8VCB2

Predicted Effect

probably null
Transcript: ENSMUST00000003049

SMART Domains

Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968

Domain	Start	End	E-Value	Type
VWA	15	178	6.55e0	SMART
low complexity region	193	211	N/A	INTRINSIC
Pfam:Med25_SD1	228	383	5.8e-55	PFAM
Pfam:Med25	396	546	3.9e-64	PFAM
low complexity region	577	592	N/A	INTRINSIC
low complexity region	596	632	N/A	INTRINSIC
Pfam:Med25_NR-box	657	745	5.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207206

Predicted Effect

probably null
Transcript: ENSMUST00000207278

Predicted Effect

probably benign
Transcript: ENSMUST00000207490

Predicted Effect

probably null
Transcript: ENSMUST00000207654

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably null
Transcript: ENSMUST00000208253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208552

Predicted Effect

probably null
Transcript: ENSMUST00000209191

Predicted Effect

probably null
Transcript: ENSMUST00000207848

Predicted Effect

probably null
Transcript: ENSMUST00000208551

Predicted Effect

probably benign
Transcript: ENSMUST00000208556

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (58/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,806,969 (GRCm39)	F431L	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Bltp3a	C	T	17: 28,099,176 (GRCm39)	T246M	possibly damaging	Het
Bsn	T	C	9: 108,003,185 (GRCm39)	T407A	probably benign	Het
Ccdc96	T	C	5: 36,642,497 (GRCm39)	F168L	probably benign	Het
Cckar	A	T	5: 53,863,795 (GRCm39)	S55R	probably damaging	Het
Cdh5	A	C	8: 104,863,367 (GRCm39)	I426L	possibly damaging	Het
Clcn1	T	C	6: 42,263,770 (GRCm39)	Y24H	probably damaging	Het
Clpx	G	A	9: 65,224,019 (GRCm39)	R271K	possibly damaging	Het
Col6a3	C	T	1: 90,725,895 (GRCm39)	G1978D	probably damaging	Het
Cpne2	T	C	8: 95,295,207 (GRCm39)		probably benign	Het
D630023F18Rik	A	G	1: 65,156,340 (GRCm39)	V51A	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dlk2	C	A	17: 46,613,530 (GRCm39)	R262S	possibly damaging	Het
Dubr	G	T	16: 50,553,007 (GRCm39)		noncoding transcript	Het
Elane	T	A	10: 79,722,933 (GRCm39)		probably null	Het
Eya2	T	G	2: 165,558,032 (GRCm39)	S209R	possibly damaging	Het
Fam171a1	C	T	2: 3,187,469 (GRCm39)	S112L	probably damaging	Het
Fsip2	T	A	2: 82,811,151 (GRCm39)	M2490K	possibly damaging	Het
Galnt14	T	C	17: 73,829,715 (GRCm39)	T277A	probably damaging	Het
Golga1	T	C	2: 38,937,660 (GRCm39)	N128S	probably benign	Het
H1f6	T	C	13: 23,879,886 (GRCm39)	V13A	probably benign	Het
Hdac2	T	C	10: 36,876,368 (GRCm39)	V461A	probably benign	Het
Hey2	A	G	10: 30,716,661 (GRCm39)	V34A	probably benign	Het
Ift22	T	C	5: 136,940,745 (GRCm39)	C137R	probably benign	Het
Lrp2	T	C	2: 69,256,002 (GRCm39)	D4657G	possibly damaging	Het
Lrrn3	T	A	12: 41,504,014 (GRCm39)	Q101L	probably damaging	Het
Mup5	T	A	4: 61,752,019 (GRCm39)		probably null	Het
Or51aa5	A	T	7: 103,166,708 (GRCm39)	Y294*	probably null	Het
Or5ac23	A	T	16: 59,149,337 (GRCm39)	C178*	probably null	Het
Or9q2	T	C	19: 13,772,931 (GRCm39)	T15A	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parg	T	C	14: 31,939,693 (GRCm39)		probably null	Het
Prep	A	G	10: 45,034,326 (GRCm39)		probably null	Het
Prss1l	T	A	6: 41,373,195 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,385,055 (GRCm39)		probably null	Het
Rbbp8	T	A	18: 11,793,979 (GRCm39)	Y30*	probably null	Het
Rhbdd1	T	C	1: 82,320,505 (GRCm39)	V163A	probably benign	Het
Setd2	T	A	9: 110,402,850 (GRCm39)	N1830K	probably damaging	Het
Shc4	T	G	2: 125,564,933 (GRCm39)	N122T	probably benign	Het
Shroom3	T	C	5: 93,096,254 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,289,469 (GRCm39)	L261Q	probably damaging	Het
St8sia1	A	G	6: 142,859,907 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,887,787 (GRCm39)		probably benign	Het
Tpp2	T	C	1: 44,009,648 (GRCm39)	V494A	probably benign	Het
Trdmt1	A	T	2: 13,520,829 (GRCm39)	F358I	probably damaging	Het
Ttn	T	A	2: 76,719,867 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,209,278 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zfp804a	T	G	2: 82,086,860 (GRCm39)	F230V	probably damaging	Het

Other mutations in Med25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Med25	APN	7	44,532,255 (GRCm39)	missense	possibly damaging	0.86
IGL02963:Med25	APN	7	44,541,680 (GRCm39)	missense	probably damaging	1.00
R0102:Med25	UTSW	7	44,534,904 (GRCm39)	missense	possibly damaging	0.92
R0302:Med25	UTSW	7	44,529,982 (GRCm39)	unclassified	probably benign
R0497:Med25	UTSW	7	44,541,524 (GRCm39)	missense	probably damaging	1.00
R0511:Med25	UTSW	7	44,534,502 (GRCm39)	critical splice donor site	probably null
R1054:Med25	UTSW	7	44,529,804 (GRCm39)	missense	probably benign	0.03
R1914:Med25	UTSW	7	44,534,046 (GRCm39)	missense	probably benign	0.01
R2305:Med25	UTSW	7	44,535,314 (GRCm39)	missense	possibly damaging	0.91
R2360:Med25	UTSW	7	44,534,566 (GRCm39)	missense	probably damaging	1.00
R3436:Med25	UTSW	7	44,535,314 (GRCm39)	missense	possibly damaging	0.91
R4736:Med25	UTSW	7	44,541,712 (GRCm39)	missense	probably damaging	1.00
R4807:Med25	UTSW	7	44,534,043 (GRCm39)	missense	probably benign	0.23
R4945:Med25	UTSW	7	44,532,526 (GRCm39)	missense	possibly damaging	0.93
R5494:Med25	UTSW	7	44,535,225 (GRCm39)	missense	probably damaging	1.00
R7037:Med25	UTSW	7	44,532,206 (GRCm39)	missense	probably damaging	1.00
R7078:Med25	UTSW	7	44,534,325 (GRCm39)	missense	probably damaging	1.00
R7411:Med25	UTSW	7	44,527,667 (GRCm39)	missense	probably damaging	0.98
R7542:Med25	UTSW	7	44,541,215 (GRCm39)	missense	probably damaging	0.96
R7883:Med25	UTSW	7	44,541,232 (GRCm39)	missense	possibly damaging	0.77
R9541:Med25	UTSW	7	44,541,267 (GRCm39)	missense	possibly damaging	0.77
R9696:Med25	UTSW	7	44,529,524 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TCTTATCTCAGGGACTCAGTGGGC -3'
(R):5'- CAGAAGAGGGACCCAGTGTTTGTG -3'

Sequencing Primer
(F):5'- CAAGGACGAGGTTCTATCTGC -3'
(R):5'- ACCCAGTGTTTGTGGGATCTG -3'

Posted On

2013-04-16