Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Med25'

608885

Institutional Source

Beutler Lab

Gene Symbol

Med25

Ensembl Gene

ENSMUSG00000002968

Gene Name

mediator complex subunit 25

Synonyms

ESTM2, 2610034E13Rik, 2610529E18Rik

MMRRC Submission

045935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44526189-44542136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44541232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 94 (F94L)

Ref Sequence

ENSEMBL: ENSMUSP00000146405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000071207] [ENSMUST00000207069] [ENSMUST00000207154] [ENSMUST00000207278] [ENSMUST00000207485] [ENSMUST00000208253] [ENSMUST00000207654] [ENSMUST00000207788] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000208551] [ENSMUST00000208556] [ENSMUST00000208600] [ENSMUST00000209039] [ENSMUST00000209132]

AlphaFold

Q8VCB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003049
AA Change: F94L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
AA Change: F94L

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: ENSMUST00000071207

SMART Domains

Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658

Domain	Start	End	E-Value	Type
low complexity region	234	259	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
low complexity region	382	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207069

Predicted Effect

probably benign
Transcript: ENSMUST00000207154

Predicted Effect

probably benign
Transcript: ENSMUST00000207278

Predicted Effect

probably benign
Transcript: ENSMUST00000207485

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208253
AA Change: F94L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000207654
AA Change: F94L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably benign
Transcript: ENSMUST00000207939

Predicted Effect

probably benign
Transcript: ENSMUST00000208179

Predicted Effect

probably damaging
Transcript: ENSMUST00000208551
AA Change: F94L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000208556

Predicted Effect

probably benign
Transcript: ENSMUST00000208600

Predicted Effect

probably benign
Transcript: ENSMUST00000208908

Predicted Effect

probably benign
Transcript: ENSMUST00000209039

Predicted Effect

probably benign
Transcript: ENSMUST00000209132

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,744,440 (GRCm39)	W5R	unknown	Het
Abcb6	A	T	1: 75,154,660 (GRCm39)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,618,027 (GRCm39)	V1082A	probably benign	Het
Adrb2	A	G	18: 62,312,447 (GRCm39)	V126A	probably damaging	Het
Apol11a	A	G	15: 77,400,774 (GRCm39)	E87G	probably damaging	Het
Arhgap45	T	A	10: 79,863,423 (GRCm39)	C755*	probably null	Het
Arl13b	A	T	16: 62,647,629 (GRCm39)	I93K	probably damaging	Het
Aspm	A	G	1: 139,406,405 (GRCm39)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm39)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,940,180 (GRCm39)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,365,735 (GRCm39)	N1150K	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta2	T	C	11: 70,566,037 (GRCm39)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,454,978 (GRCm39)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm39)	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,613,438 (GRCm39)		probably null	Het
Cttn	C	T	7: 143,999,555 (GRCm39)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,610,218 (GRCm39)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,190,397 (GRCm39)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm39)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,709,229 (GRCm39)	D612E	probably damaging	Het
Fat2	T	C	11: 55,144,190 (GRCm39)		probably null	Het
Fat4	G	A	3: 39,035,968 (GRCm39)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,517,474 (GRCm39)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,891,235 (GRCm39)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,204,469 (GRCm39)	T377M	probably damaging	Het
Gcnt3	T	A	9: 69,941,453 (GRCm39)	I372F	probably damaging	Het
Gm10577	A	T	4: 100,877,719 (GRCm39)	Y59N	unknown	Het
Gm826	A	G	2: 160,169,213 (GRCm39)	L32P	unknown	Het
Grid1	T	G	14: 35,172,259 (GRCm39)		probably null	Het
Hid1	T	A	11: 115,245,435 (GRCm39)	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,529,456 (GRCm39)	V58A	probably benign	Het
Iqcj	A	G	3: 67,954,641 (GRCm39)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,572,434 (GRCm39)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,450,888 (GRCm39)	I722M	probably damaging	Het
Klhl36	T	C	8: 120,601,217 (GRCm39)	V412A	possibly damaging	Het
Krt18	G	A	15: 101,936,885 (GRCm39)	V58M	possibly damaging	Het
Lats2	T	C	14: 57,934,657 (GRCm39)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,555,141 (GRCm39)	I4095N		Het
Map1a	A	G	2: 121,135,853 (GRCm39)	E2223G	probably damaging	Het
Mertk	A	G	2: 128,618,265 (GRCm39)	I499V	probably benign	Het
Mrps12	A	G	7: 28,439,568 (GRCm39)	L49P	probably benign	Het
Nwd1	T	A	8: 73,393,754 (GRCm39)	V339D	probably damaging	Het
Obscn	G	A	11: 58,960,835 (GRCm39)	Q3159*	probably null	Het
Patj	G	A	4: 98,499,372 (GRCm39)	V1349I	probably benign	Het
Pcdha8	T	A	18: 37,126,196 (GRCm39)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm39)		probably null	Het
Pdzd7	A	C	19: 45,018,679 (GRCm39)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 67,888,897 (GRCm39)	R45*	probably null	Het
Pik3c3	T	C	18: 30,407,416 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,392,522 (GRCm39)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,812,641 (GRCm39)		probably null	Het
Ppan	T	A	9: 20,802,777 (GRCm39)	I311N	probably benign	Het
Ppih	C	A	4: 119,167,987 (GRCm39)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,562,026 (GRCm39)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,746,524 (GRCm39)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,560,626 (GRCm39)	K53R	probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,892,723 (GRCm39)	I288V	probably benign	Het
Sds	A	G	5: 120,617,278 (GRCm39)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,847,187 (GRCm39)		probably null	Het
Sis	A	T	3: 72,828,329 (GRCm39)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,479,660 (GRCm39)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,385,340 (GRCm39)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,206,192 (GRCm39)	I440T	probably damaging	Het
Spata6l	A	C	19: 28,906,013 (GRCm39)	S297A	probably benign	Het
St6galnac6	A	G	2: 32,504,941 (GRCm39)	N151S	probably benign	Het
Taf4	G	T	2: 179,571,088 (GRCm39)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,402,375 (GRCm39)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,572,394 (GRCm39)		probably null	Het
Tmem270	A	G	5: 134,931,681 (GRCm39)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,153,169 (GRCm39)	H395R	probably damaging	Het
Tufm	T	C	7: 126,088,114 (GRCm39)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,166,188 (GRCm39)		probably null	Het
Tulp3	G	A	6: 128,303,807 (GRCm39)	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,244,440 (GRCm39)	D194G	possibly damaging	Het
Vill	C	A	9: 118,894,589 (GRCm39)	C415*	probably null	Het
Zfp799	A	G	17: 33,039,256 (GRCm39)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,685,270 (GRCm39)	E213G	possibly 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
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
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'- CGGTAACTGGACACTCAGAC -3'
(R):5'- AGGAAAGATGGGGTCCTTAGTC -3'

Sequencing Primer
(F):5'- CTGGACACTCAGACAGGGAC -3'
(R):5'- GAAGAAGGGCTCACAGCTTATTTC -3'

Posted On

2019-12-20