Mutagenetix > Incidental Mutation

Incidental Mutation 'R8722:Med22'

662147

Institutional Source

Beutler Lab

Gene Symbol

Med22

Ensembl Gene

ENSMUSG00000015776

Gene Name

mediator complex subunit 22

Synonyms

Surf-5, Surf5

MMRRC Submission

068572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26795279-26800654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26800313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 39 (T39A)

Ref Sequence

ENSEMBL: ENSMUSP00000099963 (fasta)

Gene Model

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

AlphaFold

Q62276

Predicted Effect

probably benign
Transcript: ENSMUST00000015920
AA Change: T39A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776
AA Change: T39A

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

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 benign
Transcript: ENSMUST00000102899
AA Change: T39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776
AA Change: T39A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129682

Predicted Effect

probably benign
Transcript: ENSMUST00000129822

Predicted Effect

probably benign
Transcript: ENSMUST00000139815
AA Change: T39A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776
AA Change: T39A

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

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: ENSMUST00000183520

Meta Mutation Damage Score

0.1146

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (54/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,823,101 (GRCm39)	C61R	probably benign	Het
4933427D14Rik	A	G	11: 72,080,422 (GRCm39)	F415L	probably benign	Het
Abcc2	G	A	19: 43,825,052 (GRCm39)	G1446D	possibly damaging	Het
Acaca	A	T	11: 84,229,283 (GRCm39)	E1703D	possibly damaging	Het
Acap3	T	C	4: 155,990,415 (GRCm39)	*834Q	probably null	Het
Adam22	A	G	5: 8,166,554 (GRCm39)	S726P	probably benign	Het
Adamtsl3	T	C	7: 82,244,745 (GRCm39)		probably null	Het
Adgrg6	T	A	10: 14,296,188 (GRCm39)	I1071F	probably benign	Het
Agxt2	A	T	15: 10,373,825 (GRCm39)	D77V	probably benign	Het
Ahnak	C	A	19: 8,990,710 (GRCm39)	S3998*	probably null	Het
Asns	T	A	6: 7,676,085 (GRCm39)	I462F	probably damaging	Het
Barx2	G	C	9: 31,824,280 (GRCm39)	C36W	probably damaging	Het
Bnc2	A	G	4: 84,211,883 (GRCm39)	V162A	possibly damaging	Het
Bptf	A	G	11: 107,022,295 (GRCm39)	S152P	unknown	Het
Brpf3	T	C	17: 29,029,510 (GRCm39)	L490P	probably benign	Het
Carmil1	T	C	13: 24,220,568 (GRCm39)	D1052G	probably benign	Het
Ccn1	T	A	3: 145,354,584 (GRCm39)	N109I	probably damaging	Het
Cdk17	A	G	10: 93,064,565 (GRCm39)	H311R	probably damaging	Het
Cenpj	G	A	14: 56,772,975 (GRCm39)	R1022C	probably damaging	Het
Cog5	A	G	12: 31,969,703 (GRCm39)	D741G	possibly damaging	Het
Csmd2	T	A	4: 128,445,743 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,961,283 (GRCm39)	Q2568*	probably null	Het
Dspp	A	G	5: 104,326,433 (GRCm39)	D932G	unknown	Het
Dtwd2	T	C	18: 49,833,385 (GRCm39)	T223A	probably damaging	Het
Fzd8	A	G	18: 9,213,686 (GRCm39)	N256S	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm9936	T	C	5: 114,995,515 (GRCm39)	Y34C	unknown	Het
Gstcd	T	A	3: 132,777,822 (GRCm39)	K330*	probably null	Het
Igf2bp1	A	G	11: 95,861,606 (GRCm39)	V277A	possibly damaging	Het
Kidins220	G	A	12: 25,051,593 (GRCm39)	V332I	probably benign	Het
Kif24	T	C	4: 41,394,233 (GRCm39)	H1014R	probably benign	Het
Lrrc43	T	C	5: 123,646,142 (GRCm39)	Y639H	possibly damaging	Het
Morn3	T	C	5: 123,179,177 (GRCm39)	Y91C	probably damaging	Het
Myo1a	T	C	10: 127,542,707 (GRCm39)	M115T	probably damaging	Het
Or10w3	T	C	19: 13,704,033 (GRCm39)	M136T	possibly damaging	Het
Or1e32	T	A	11: 73,705,882 (GRCm39)	I9F	probably benign	Het
Or52n2b	C	T	7: 104,565,708 (GRCm39)	R265H	probably benign	Het
Pdcl	T	C	2: 37,247,317 (GRCm39)	D24G	probably benign	Het
Pde10a	G	A	17: 9,163,772 (GRCm39)	C250Y	probably benign	Het
Pla2g10	A	T	16: 13,548,254 (GRCm39)	L8M	unknown	Het
Plch2	A	T	4: 155,069,860 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,055,894 (GRCm39)	K198R	probably benign	Het
Prlh	G	T	1: 90,880,897 (GRCm39)	R23L	possibly damaging	Het
Ranbp2	C	A	10: 58,312,049 (GRCm39)	T923K	probably damaging	Het
Rps11	T	C	7: 44,772,616 (GRCm39)	N65S	probably benign	Het
Ryr3	T	C	2: 112,603,116 (GRCm39)	T2463A	probably benign	Het
Shank2	C	T	7: 143,729,485 (GRCm39)		probably benign	Het
Slc12a1	T	A	2: 125,002,518 (GRCm39)	V166E	probably damaging	Het
Slc6a9	C	T	4: 117,714,452 (GRCm39)	R97C	unknown	Het
Slpi	A	C	2: 164,197,975 (GRCm39)	M1R	probably null	Het
Syne2	T	A	12: 75,972,095 (GRCm39)	V994D	probably benign	Het
Tacc3	T	C	5: 33,825,553 (GRCm39)	Y435H	probably damaging	Het
Tpgs2	T	A	18: 25,274,679 (GRCm39)	Q132L	probably benign	Het
Usp13	T	A	3: 32,956,114 (GRCm39)	I462N	probably benign	Het
Zfp281	C	T	1: 136,553,334 (GRCm39)	A104V	probably benign	Het
Zfp40	A	G	17: 23,395,157 (GRCm39)	C477R	probably damaging	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
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
R9364:Med22	UTSW	2	26,795,821 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAACGTAGAGCCCTGGCAAAC -3'
(R):5'- GAGCTGTTGTATCGGAAATCCC -3'

Sequencing Primer
(F):5'- AAACGGGCCAGAGTTCTCCTC -3'
(R):5'- GAAATCCCGGTCCCCAGC -3'

Posted On

2021-03-08