Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01576:Med22'

91273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med22

Ensembl Gene

ENSMUSG00000015776

Gene Name

mediator complex subunit 22

Synonyms

Surf-5, Surf5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01576

Quality Score

Status

Chromosome

Chromosomal Location

26795279-26800654 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 26799004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000139815] [ENSMUST00000167661] [ENSMUST00000147110]

AlphaFold

Q62276

Predicted Effect

probably null
Transcript: ENSMUST00000015920

SMART Domains

Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	20	125	5.7e-40	PFAM
low complexity region	127	141	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000015934

SMART Domains

Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
Pfam:SURF1	106	321	6.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083361

Predicted Effect

probably benign
Transcript: ENSMUST00000102898

SMART Domains

Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	122	216	1.2e-25	PFAM
low complexity region	251	262	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102899

SMART Domains

Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	130	5.6e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000139815

SMART Domains

Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776

Domain	Start	End	E-Value	Type
Pfam:Med22	14	72	3e-14	PFAM
Pfam:Med22	96	166	2.7e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147143

Predicted Effect

probably benign
Transcript: ENSMUST00000167661

SMART Domains

Protein: ENSMUSP00000128488
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	51	66	N/A	INTRINSIC
Pfam:SURF1	73	290	5.9e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129822

Predicted Effect

probably benign
Transcript: ENSMUST00000183520

Predicted Effect

probably benign
Transcript: ENSMUST00000147110

SMART Domains

Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:SURF1	30	240	5.1e-56	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,531,293 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,816,121 (GRCm39)	E541G	probably damaging	Het
Arhgef5	A	T	6: 43,250,962 (GRCm39)	D571V	probably benign	Het
Birc6	A	G	17: 74,984,365 (GRCm39)	N4459S	possibly damaging	Het
Brsk2	T	C	7: 141,535,292 (GRCm39)	I38T	possibly damaging	Het
Cacna2d4	A	T	6: 119,258,602 (GRCm39)	R563*	probably null	Het
Car7	T	A	8: 105,276,180 (GRCm39)		probably null	Het
Chml	T	C	1: 175,515,271 (GRCm39)	T217A	probably benign	Het
Dnah7b	T	G	1: 46,307,813 (GRCm39)	N3042K	probably damaging	Het
Efcab2	T	G	1: 178,264,957 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,208,174 (GRCm39)	E397G	probably damaging	Het
Fam20c	A	G	5: 138,793,094 (GRCm39)	T443A	probably damaging	Het
Fam221b	T	C	4: 43,666,227 (GRCm39)	E128G	probably benign	Het
Fat4	A	G	3: 38,943,096 (GRCm39)	D663G	probably damaging	Het
Fndc10	T	A	4: 155,779,433 (GRCm39)	V159D	probably benign	Het
Gm14496	A	G	2: 181,633,164 (GRCm39)	Y49C	possibly damaging	Het
Gpr63	G	T	4: 25,008,445 (GRCm39)	D390Y	possibly damaging	Het
Herc2	G	A	7: 55,876,409 (GRCm39)		probably null	Het
Igdcc3	A	G	9: 65,085,152 (GRCm39)	T199A	probably damaging	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Lpin3	T	C	2: 160,739,047 (GRCm39)	V285A	probably benign	Het
Mdga1	T	C	17: 30,062,101 (GRCm39)	S443G	possibly damaging	Het
Or7c70	G	T	10: 78,683,207 (GRCm39)	L181I	possibly damaging	Het
Pals2	G	A	6: 50,140,472 (GRCm39)	R164Q	probably benign	Het
Pcnt	T	G	10: 76,204,656 (GRCm39)	D2583A	probably damaging	Het
Pkn3	G	A	2: 29,977,054 (GRCm39)	R598Q	probably damaging	Het
Pnpla7	T	C	2: 24,906,575 (GRCm39)	V646A	probably damaging	Het
Podxl	A	T	6: 31,501,319 (GRCm39)	V412D	probably damaging	Het
Rad51ap1	A	T	6: 126,905,123 (GRCm39)	S129R	probably damaging	Het
Relb	T	C	7: 19,346,526 (GRCm39)	I349V	probably benign	Het
Rorb	C	T	19: 18,934,698 (GRCm39)	G224D	probably damaging	Het
Slc40a1	T	A	1: 45,948,757 (GRCm39)	I508F	probably damaging	Het
Tanc1	G	A	2: 59,628,079 (GRCm39)	V619M	probably damaging	Het
Tgm7	A	T	2: 120,931,514 (GRCm39)	D216E	probably damaging	Het
Tmem132e	A	G	11: 82,329,200 (GRCm39)	D493G	probably damaging	Het
Zfp110	T	A	7: 12,583,598 (GRCm39)	C749S	probably damaging	Het
Zscan4d	T	C	7: 10,896,519 (GRCm39)	N284D	possibly damaging	Het

Other mutations in Med22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0681:Med22	UTSW	2	26,800,391 (GRCm39)	missense	probably benign	0.00
R3008:Med22	UTSW	2	26,798,396 (GRCm39)	unclassified	probably benign
R3831:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R3832:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R3833:Med22	UTSW	2	26,800,379 (GRCm39)	missense	probably damaging	1.00
R6858:Med22	UTSW	2	26,795,949 (GRCm39)	missense	possibly damaging	0.91
R7230:Med22	UTSW	2	26,798,223 (GRCm39)	missense	probably benign
R7852:Med22	UTSW	2	26,800,376 (GRCm39)	missense	probably damaging	1.00
R8722:Med22	UTSW	2	26,800,313 (GRCm39)	missense	probably benign
R9364:Med22	UTSW	2	26,795,821 (GRCm39)	missense	probably benign

Posted On

2013-12-09