Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Med25'

63293

Institutional Source

Beutler Lab

Gene Symbol

Med25

Ensembl Gene

ENSMUSG00000002968

Gene Name

mediator complex subunit 25

Synonyms

ESTM2, 2610034E13Rik, 2610529E18Rik

MMRRC Submission

038388-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44526189-44542136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44534904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 80 (V80I)

Ref Sequence

ENSEMBL: ENSMUSP00000146595 (fasta)

Gene Model

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

AlphaFold

Q8VCB2

Predicted Effect

probably benign
Transcript: ENSMUST00000003049
AA Change: V183I

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: V183I

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: ENSMUST00000207196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207206

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207278
AA Change: V80I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000207490

Predicted Effect

probably benign
Transcript: ENSMUST00000207654
AA Change: V260I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000208551
AA Change: V183I

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000208253
AA Change: V183I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000207848

Predicted Effect

probably benign
Transcript: ENSMUST00000208556

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably benign
Transcript: ENSMUST00000209191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208552

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.5%
20x: 91.8%

Validation Efficiency

98% (65/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,874 (GRCm39)	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,386,762 (GRCm39)	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,265,795 (GRCm39)	R292*	probably null	Het
Abcb4	T	C	5: 8,959,194 (GRCm39)	F207S	probably damaging	Het
Afap1l2	G	T	19: 56,916,872 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,687,385 (GRCm39)	H203L	probably benign	Het
Cfi	A	C	3: 129,642,416 (GRCm39)	H90P	probably damaging	Het
Col1a2	T	A	6: 4,520,775 (GRCm39)	S371T	possibly damaging	Het
Cyp2d10	C	T	15: 82,288,794 (GRCm39)	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,897 (GRCm39)		probably benign	Het
Dnttip2	G	T	3: 122,069,452 (GRCm39)	M222I	probably benign	Het
Dync1li2	A	T	8: 105,154,757 (GRCm39)	Y284N	probably benign	Het
Ebf1	T	C	11: 44,882,282 (GRCm39)	Y413H	probably benign	Het
Exog	A	G	9: 119,281,319 (GRCm39)	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,334,939 (GRCm39)	N66S	possibly damaging	Het
Gad1	G	A	2: 70,417,583 (GRCm39)		probably null	Het
Golgb1	C	A	16: 36,695,830 (GRCm39)		probably benign	Het
Gprc5a	A	T	6: 135,056,033 (GRCm39)	N160I	probably damaging	Het
Haus3	A	G	5: 34,323,258 (GRCm39)		probably null	Het
Klhl20	A	T	1: 160,918,015 (GRCm39)	C90*	probably null	Het
Krt84	T	A	15: 101,437,138 (GRCm39)	I342L	probably damaging	Het
Lifr	G	A	15: 7,208,373 (GRCm39)	D584N	probably damaging	Het
Lrp1b	G	A	2: 41,298,997 (GRCm39)		probably benign	Het
Lrtm1	T	A	14: 28,744,184 (GRCm39)		probably benign	Het
Mest	A	G	6: 30,746,269 (GRCm39)	I279V	probably damaging	Het
Mki67	T	C	7: 135,315,532 (GRCm39)	R81G	probably benign	Het
Naa25	A	G	5: 121,573,632 (GRCm39)	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,162,534 (GRCm39)	P465S	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Necab3	G	A	2: 154,387,232 (GRCm39)	R302C	probably damaging	Het
Nsg1	A	T	5: 38,316,254 (GRCm39)	D32E	probably damaging	Het
Nuggc	A	G	14: 65,851,000 (GRCm39)	D290G	probably null	Het
Nup205	A	T	6: 35,202,715 (GRCm39)		probably benign	Het
Or11g27	T	A	14: 50,771,088 (GRCm39)	L73Q	probably damaging	Het
Or2w6	T	C	13: 21,842,905 (GRCm39)	D196G	probably damaging	Het
Or4a77	T	C	2: 89,486,999 (GRCm39)	N262S	probably benign	Het
Or4c111	T	C	2: 88,844,015 (GRCm39)	Y131C	probably damaging	Het
Or4f57	G	C	2: 111,790,942 (GRCm39)	Q159E	probably damaging	Het
Or8h10	A	T	2: 86,808,549 (GRCm39)	I197N	possibly damaging	Het
Otp	T	C	13: 95,013,663 (GRCm39)	V27A	probably benign	Het
Phip	A	T	9: 82,787,845 (GRCm39)		probably null	Het
Pon2	A	G	6: 5,289,091 (GRCm39)		probably benign	Het
Ppp1r12b	T	A	1: 134,763,637 (GRCm39)		probably null	Het
Ppp1r15b	A	G	1: 133,060,908 (GRCm39)	N475S	probably damaging	Het
Prrt3	A	T	6: 113,474,790 (GRCm39)	L144H	probably damaging	Het
Psmb7	A	G	2: 38,533,377 (GRCm39)	V50A	possibly damaging	Het
Sacs	T	A	14: 61,442,017 (GRCm39)	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,425,884 (GRCm39)	T29A	probably benign	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,794,452 (GRCm39)	I447T	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,676 (GRCm39)	V48A	probably damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trappc12	A	T	12: 28,796,751 (GRCm39)	F260L	probably damaging	Het
Trim10	C	A	17: 37,181,074 (GRCm39)	H102N	probably damaging	Het
Ube2u	A	G	4: 100,407,122 (GRCm39)	T215A	possibly damaging	Het
Vcan	T	G	13: 89,851,787 (GRCm39)	T1058P	probably benign	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
R0167:Med25	UTSW	7	44,532,521 (GRCm39)	critical splice donor site	probably null
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'- ATGACCCAGGAGCTTTGACTCCAC -3'
(R):5'- TGTGCTTGCTTACGACTGTCCATAC -3'

Sequencing Primer
(F):5'- ATTACATCCATACCTGGTACTGTG -3'
(R):5'- GACTAACTCCAGCACGTTCA -3'

Posted On

2013-07-30