Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Med25'

575078

Institutional Source

Beutler Lab

Gene Symbol

Med25

Ensembl Gene

ENSMUSG00000002968

Gene Name

mediator complex subunit 25

Synonyms

2610529E18Rik, 2610034E13Rik, ESTM2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44876765-44892712 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44878243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 730 (W730R)

Ref Sequence

ENSEMBL: ENSMUSP00000146405 (fasta)

Gene Model

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

AlphaFold

Q8VCB2

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000207278

Predicted Effect

probably benign
Transcript: ENSMUST00000207654

Predicted Effect

probably benign
Transcript: ENSMUST00000207848

Predicted Effect

probably damaging
Transcript: ENSMUST00000208253
AA Change: W730R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000208551

Predicted Effect

probably benign
Transcript: ENSMUST00000209191

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936		probably null	Het
Abcc12	C	A	8: 86,560,850	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917		probably null	Het
Adam28	C	T	14: 68,626,947	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195		probably null	Het
Gm11639	T	G	11: 104,999,723	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm5861	T	A	5: 11,183,149		probably null	Het
Gm9513	T	C	9: 36,475,684	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985	F91L		Het
Ints1	C	T	5: 139,764,260	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063	M1K	probably null	Het
Jrk	C	T	15: 74,707,199	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908	L276P	probably damaging	Het
Muc4	T	C	16: 32,751,322	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855		probably null	Het
Nphp4	T	A	4: 152,554,717	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192		probably null	Het
Rhbdl2	G	A	4: 123,829,642	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Sema3a	T	G	5: 13,516,263	Y171*	probably null	Het
Set	A	G	2: 30,066,885	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slc6a20b	A	G	9: 123,604,948	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131	M1078R		Het
Wdr63	A	G	3: 146,097,145	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444		probably null	Het

Other mutations in Med25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Med25	APN	7	44882831	missense	possibly damaging	0.86
IGL02963:Med25	APN	7	44892256	missense	probably damaging	1.00
R0102:Med25	UTSW	7	44885480	missense	possibly damaging	0.92
R0167:Med25	UTSW	7	44883097	critical splice donor site	probably null
R0302:Med25	UTSW	7	44880558	unclassified	probably benign
R0497:Med25	UTSW	7	44892100	missense	probably damaging	1.00
R0511:Med25	UTSW	7	44885078	critical splice donor site	probably null
R1054:Med25	UTSW	7	44880380	missense	probably benign	0.03
R1914:Med25	UTSW	7	44884622	missense	probably benign	0.01
R2305:Med25	UTSW	7	44885890	missense	possibly damaging	0.91
R2360:Med25	UTSW	7	44885142	missense	probably damaging	1.00
R3436:Med25	UTSW	7	44885890	missense	possibly damaging	0.91
R4736:Med25	UTSW	7	44892288	missense	probably damaging	1.00
R4807:Med25	UTSW	7	44884619	missense	probably benign	0.23
R4945:Med25	UTSW	7	44883102	missense	possibly damaging	0.93
R5494:Med25	UTSW	7	44885801	missense	probably damaging	1.00
R7037:Med25	UTSW	7	44882782	missense	probably damaging	1.00
R7078:Med25	UTSW	7	44884901	missense	probably damaging	1.00
R7542:Med25	UTSW	7	44891791	missense	probably damaging	0.96
R7883:Med25	UTSW	7	44891808	missense	possibly damaging	0.77
R9541:Med25	UTSW	7	44891843	missense	possibly damaging	0.77
R9696:Med25	UTSW	7	44880100	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCATGGCTATTCCTGGCTC -3'
(R):5'- TTAATGTGCAGGTGACCCAC -3'

Sequencing Primer
(F):5'- AGGGCCCTTTTCAGTTCCTG -3'
(R):5'- TAGCTGTAACGCTCCAGTGAG -3'

Posted On

2019-10-07