Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Med22'

275448

Institutional Source

Beutler Lab

Gene Symbol

Med22

Ensembl Gene

ENSMUSG00000015776

Gene Name

mediator complex subunit 22

Synonyms

Surf-5, Surf5

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26795279-26800654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26800379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 17 (S17P)

Ref Sequence

ENSEMBL: ENSMUSP00000116442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000139815] [ENSMUST00000129682] [ENSMUST00000147110] [ENSMUST00000167661]

AlphaFold

Q62276

Predicted Effect

probably damaging
Transcript: ENSMUST00000015920
AA Change: S17P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776
AA Change: S17P

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 damaging
Transcript: ENSMUST00000102899
AA Change: S17P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776
AA Change: S17P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139815
AA Change: S17P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776
AA Change: S17P

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: ENSMUST00000129673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149339

Predicted Effect

probably benign
Transcript: ENSMUST00000129682

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

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

Meta Mutation Damage Score

0.2966

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccn6	T	C	10: 39,030,945 (GRCm39)	K193E	probably benign	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slc26a6	C	T	9: 108,733,117 (GRCm39)	T32I	possibly damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	Het

Other mutations in Med22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Med22	APN	2	26,799,004 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTGAGTCACATTCCCTCTGC -3'
(R):5'- GATTTAAAGCGACAAGGACCC -3'

Sequencing Primer
(F):5'- GAGTCACATTCCCTCTGCTTTCC -3'
(R):5'- AAGGACCCACTTCGGACTCTG -3'

Posted On

2015-04-06