Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01702:Med28'

104508

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med28

Ensembl Gene

ENSMUSG00000015804

Gene Name

mediator complex subunit 28

Synonyms

Eg1, magicin, 1500003D12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01702

Quality Score

Status

Chromosome

Chromosomal Location

45677571-45686618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45682633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 100 (S100P)

Ref Sequence

ENSEMBL: ENSMUSP00000112418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016023] [ENSMUST00000118833] [ENSMUST00000119579] [ENSMUST00000156481]

AlphaFold

Q920D3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000015948

Predicted Effect

probably benign
Transcript: ENSMUST00000016023

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879

Domain	Start	End	E-Value	Type
Pfam:FAM184	50	248	7.7e-28	PFAM
coiled coil region	284	337	N/A	INTRINSIC
coiled coil region	387	495	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
coiled coil region	575	620	N/A	INTRINSIC
coiled coil region	686	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118833

SMART Domains

Protein: ENSMUSP00000113027
Gene: ENSMUSG00000015804

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119579
AA Change: S100P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112418
Gene: ENSMUSG00000015804
AA Change: S100P

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Med28	44	116	3.6e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139586

Predicted Effect

probably benign
Transcript: ENSMUST00000156481
AA Change: S160P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115882
Gene: ENSMUSG00000015804
AA Change: S160P

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Med28	72	136	4.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198680

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,886 (GRCm39)		probably null	Het
Asb2	C	T	12: 103,302,164 (GRCm39)	G128E	possibly damaging	Het
Atp11c	A	T	X: 59,315,263 (GRCm39)	S683T	probably damaging	Het
Brinp3	A	G	1: 146,627,735 (GRCm39)		probably benign	Het
Cpeb3	A	T	19: 37,103,782 (GRCm39)	M369K	possibly damaging	Het
Exoc5	A	T	14: 49,253,072 (GRCm39)	C580*	probably null	Het
Gm9956	A	G	10: 56,621,335 (GRCm39)			Het
Gzmk	C	T	13: 113,317,084 (GRCm39)	V32I	probably damaging	Het
Hsf4	T	C	8: 105,998,221 (GRCm39)	I129T	probably damaging	Het
Igkv1-115	T	A	6: 68,138,516 (GRCm39)	W40R	probably damaging	Het
Iqub	A	T	6: 24,500,312 (GRCm39)	M314K	probably benign	Het
Krt87	T	C	15: 101,389,099 (GRCm39)	T78A	probably benign	Het
Prx	G	A	7: 27,219,212 (GRCm39)	V1238I	probably benign	Het
Ptprq	T	C	10: 107,353,727 (GRCm39)	N2263S	probably benign	Het
Rab12	A	G	17: 66,826,384 (GRCm39)	F61S	probably damaging	Het
Serpinb9d	T	C	13: 33,387,006 (GRCm39)	F358S	probably damaging	Het
Slc25a3	A	T	10: 90,953,987 (GRCm39)	Y242N	probably damaging	Het
Smtnl1	T	C	2: 84,649,034 (GRCm39)	I73M	possibly damaging	Het
Tnp1	C	A	1: 73,054,877 (GRCm39)		probably benign	Het
Trim5	T	C	7: 103,928,638 (GRCm39)	E101G	probably damaging	Het

Other mutations in Med28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Med28	APN	5	45,680,812 (GRCm39)	missense	probably damaging	1.00
IGL03062:Med28	APN	5	45,679,811 (GRCm39)	missense	probably damaging	1.00
R3076:Med28	UTSW	5	45,679,820 (GRCm39)	missense	possibly damaging	0.79
R3078:Med28	UTSW	5	45,679,820 (GRCm39)	missense	possibly damaging	0.79
R5400:Med28	UTSW	5	45,682,541 (GRCm39)	missense	probably damaging	1.00
R7083:Med28	UTSW	5	45,680,878 (GRCm39)	critical splice donor site	probably null
R7208:Med28	UTSW	5	45,680,794 (GRCm39)	missense	probably damaging	1.00
R7998:Med28	UTSW	5	45,682,541 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21