Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Med23'

693651

Institutional Source

Beutler Lab

Gene Symbol

Med23

Ensembl Gene

ENSMUSG00000019984

Gene Name

mediator complex subunit 23

Synonyms

X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24869986-24913681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24904381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 976 (F976I)

Ref Sequence

ENSEMBL: ENSMUSP00000090316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176285] [ENSMUST00000177232]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020159
AA Change: F970I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: F970I

Domain	Start	End	E-Value	Type
Pfam:Med23	3	1310	N/A	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: F976I

Domain	Start	End	E-Value	Type
Pfam:Med23	4	1316	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176285
AA Change: F610I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: F610I

Domain	Start	End	E-Value	Type
Pfam:Med23	1	51	4.4e-14	PFAM
Pfam:Med23	48	950	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177232

SMART Domains

Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984

Domain	Start	End	E-Value	Type
Pfam:Med23	3	58	1.2e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with disorganization of the vasculature and peripheral nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,508	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,595,514	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,667,367	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,554,516	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,363	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,437,007	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,354,012		probably null	Het
Atm	A	T	9: 53,533,744	I34N	probably benign	Het
Brms1l	A	G	12: 55,860,128	E160G	possibly damaging	Het
Camk2a	C	T	18: 60,943,255	H102Y	unknown	Het
Cd300lb	A	G	11: 114,928,308	V165A	probably damaging	Het
Cela1	G	A	15: 100,681,157	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642	S649P		Het
Clic3	A	G	2: 25,458,313	Q130R	probably benign	Het
Clns1a	G	A	7: 97,713,918	G166R	probably damaging	Het
Cngb1	A	T	8: 95,253,265	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,441,400	A319E	probably benign	Het
Cntnap5b	C	T	1: 100,050,643	T128I	probably benign	Het
Csf3r	G	A	4: 126,030,020	D108N	probably benign	Het
Ctsc	G	A	7: 88,309,808	W432*	probably null	Het
Dapk1	G	A	13: 60,761,394	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,157,715	P718Q	probably damaging	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,227,020	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,866,136	Q107L	probably benign	Het
Eml2	A	G	7: 19,184,826	D67G		Het
Eml5	A	T	12: 98,858,840	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,477,574	D509G		Het
Farsb	T	C	1: 78,483,314	K43E	probably benign	Het
Fbxw20	A	G	9: 109,223,446	F273S	probably damaging	Het
Fig4	A	T	10: 41,265,411	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756	N403K	probably damaging	Het
Fsip2	A	T	2: 82,982,826	H3163L	probably benign	Het
Gm38119	C	A	3: 92,738,096	G64*	probably null	Het
Gpr18	A	G	14: 121,911,761	V284A	probably benign	Het
Hacd3	A	G	9: 65,001,004	V170A	probably damaging	Het
Hps3	T	C	3: 20,029,186	E281G	probably damaging	Het
Ick	A	T	9: 78,166,948	S551C	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,926	V10G	probably benign	Het
Lrp1b	G	A	2: 40,699,578	R3862*	probably null	Het
Ltbp4	A	G	7: 27,337,551	L6P	unknown	Het
Ly6h	T	A	15: 75,565,673	T53S	probably damaging	Het
Ly6i	A	G	15: 74,983,157		probably benign	Het
Mat2a	G	A	6: 72,436,244	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275	D5066E	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mylk	G	T	16: 34,956,465	C1336F	probably benign	Het
Myo9a	G	C	9: 59,861,489	R918P	probably damaging	Het
Naglu	T	A	11: 101,076,905	D560E	probably damaging	Het
Nrg2	C	T	18: 36,024,343	V430M	probably damaging	Het
Oit3	T	C	10: 59,435,929	N202S	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr211	A	G	6: 116,493,920	T104A	probably benign	Het
Olfr389	A	T	11: 73,777,324	M1K	probably null	Het
Olfr569	T	C	7: 102,887,979	H58R	probably benign	Het
Olfr766-ps1	C	A	10: 129,063,228	V260F	probably damaging	Het
Otog	T	A	7: 46,303,173	C423*	probably null	Het
Pcolce	T	A	5: 137,605,508	T401S	probably benign	Het
Pcsk2	T	C	2: 143,813,663	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,492,273	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,246,080	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,606,985	V39A	probably benign	Het
Pros1	T	A	16: 62,928,034	D623E	probably damaging	Het
Psg16	A	G	7: 17,098,099	D320G	probably benign	Het
Ptpre	T	A	7: 135,679,146	H612Q	probably damaging	Het
Rbm34	A	G	8: 126,953,178	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,414,690	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,552,762	L143*	probably null	Het
Sept9	T	A	11: 117,290,634	S105T	probably damaging	Het
Shprh	T	C	10: 11,162,845	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,636,998	*593E	probably null	Het
Smarcc1	A	G	9: 110,135,642	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,798,777	V255A	probably benign	Het
Tiam1	A	G	16: 89,860,267	S694P	probably damaging	Het
Tmem130	T	C	5: 144,743,719	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,214,377		probably benign	Het
Tpcn2	A	G	7: 145,260,925	Y480H	probably damaging	Het
Trf	G	T	9: 103,211,888	A600D	probably damaging	Het
Ttc16	A	T	2: 32,769,220	L346Q	probably damaging	Het
Vars	A	C	17: 35,004,797	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,787,417	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,553,036	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,325,881	T672A	probably damaging	Het
Wdfy4	T	A	14: 33,097,850	T1466S		Het
Zcwpw1	T	C	5: 137,810,920	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,491,081	E190G	unknown	Het
Zfp273	A	T	13: 67,825,566	H271L	probably damaging	Het
Zfp764	C	A	7: 127,406,547	E20*	probably null	Het
Znfx1	A	T	2: 167,050,378	N639K	probably benign	Het

Other mutations in Med23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Med23	APN	10	24888584	missense	probably damaging	1.00
IGL00792:Med23	APN	10	24877004	missense	possibly damaging	0.93
IGL01289:Med23	APN	10	24902121	missense	probably damaging	1.00
IGL01469:Med23	APN	10	24882597	missense	probably damaging	1.00
IGL01598:Med23	APN	10	24903798	missense	probably benign	0.34
IGL02324:Med23	APN	10	24897341	missense	probably damaging	0.98
IGL02381:Med23	APN	10	24900728	missense	possibly damaging	0.95
IGL02465:Med23	APN	10	24903743	missense	probably damaging	0.96
IGL02554:Med23	APN	10	24898575	critical splice donor site	probably null
IGL02683:Med23	APN	10	24870717	missense	probably benign	0.00
PIT4362001:Med23	UTSW	10	24874571	missense	probably benign	0.01
R0080:Med23	UTSW	10	24912817	missense	probably benign	0.33
R0125:Med23	UTSW	10	24900788	missense	probably damaging	1.00
R0311:Med23	UTSW	10	24897358	missense	possibly damaging	0.95
R0765:Med23	UTSW	10	24900710	missense	probably damaging	1.00
R1302:Med23	UTSW	10	24888422	splice site	probably null
R1456:Med23	UTSW	10	24903652	splice site	probably benign
R1514:Med23	UTSW	10	24892667	splice site	probably benign
R1774:Med23	UTSW	10	24903686	missense	probably damaging	1.00
R1851:Med23	UTSW	10	24910870	splice site	probably null
R1928:Med23	UTSW	10	24909812	missense	probably benign
R1975:Med23	UTSW	10	24910766	missense	probably benign	0.01
R2011:Med23	UTSW	10	24879755	missense	possibly damaging	0.63
R2266:Med23	UTSW	10	24874601	missense	probably benign	0.00
R2309:Med23	UTSW	10	24870688	missense	probably damaging	0.99
R2507:Med23	UTSW	10	24910813	missense	probably damaging	1.00
R2566:Med23	UTSW	10	24888575	missense	probably damaging	1.00
R3720:Med23	UTSW	10	24891120	missense	probably damaging	1.00
R3771:Med23	UTSW	10	24902201	missense	probably damaging	1.00
R3811:Med23	UTSW	10	24892592	nonsense	probably null
R3811:Med23	UTSW	10	24892593	splice site	probably null
R4305:Med23	UTSW	10	24904270	nonsense	probably null
R4323:Med23	UTSW	10	24870705	missense	probably benign	0.02
R4701:Med23	UTSW	10	24893648	missense	probably damaging	1.00
R4886:Med23	UTSW	10	24874683	critical splice donor site	probably null
R4925:Med23	UTSW	10	24910747	missense	probably damaging	1.00
R4943:Med23	UTSW	10	24875669	missense	possibly damaging	0.92
R5207:Med23	UTSW	10	24895836	nonsense	probably null
R5749:Med23	UTSW	10	24888449	missense	possibly damaging	0.84
R5806:Med23	UTSW	10	24907221	missense	probably damaging	1.00
R5896:Med23	UTSW	10	24902145	missense	probably damaging	1.00
R5954:Med23	UTSW	10	24870483	splice site	probably benign
R6031:Med23	UTSW	10	24903748	nonsense	probably null
R6031:Med23	UTSW	10	24903748	nonsense	probably null
R6093:Med23	UTSW	10	24878443	missense	probably benign	0.16
R6107:Med23	UTSW	10	24906034	nonsense	probably null
R6356:Med23	UTSW	10	24888413	missense	probably damaging	0.98
R6393:Med23	UTSW	10	24873476	missense	possibly damaging	0.91
R6533:Med23	UTSW	10	24893620	missense	probably damaging	1.00
R6911:Med23	UTSW	10	24902181	missense	probably damaging	0.98
R6981:Med23	UTSW	10	24895824	missense	possibly damaging	0.92
R7085:Med23	UTSW	10	24870121	missense	probably damaging	1.00
R7215:Med23	UTSW	10	24888429	missense	probably benign
R7229:Med23	UTSW	10	24902004	missense	probably benign
R7489:Med23	UTSW	10	24904356	missense	probably damaging	1.00
R7530:Med23	UTSW	10	24905953	missense	probably benign	0.00
R7643:Med23	UTSW	10	24905965	missense	probably benign	0.01
R7653:Med23	UTSW	10	24904384	missense	probably damaging	1.00
R7764:Med23	UTSW	10	24909920	critical splice donor site	probably null
R7784:Med23	UTSW	10	24902448	missense	probably damaging	1.00
R8024:Med23	UTSW	10	24879683	missense	possibly damaging	0.74
R8182:Med23	UTSW	10	24912807	missense	probably benign
R8412:Med23	UTSW	10	24908734	missense	probably benign	0.01
R8874:Med23	UTSW	10	24895719	missense	possibly damaging	0.92
R8975:Med23	UTSW	10	24904436	missense	probably benign	0.42
R9202:Med23	UTSW	10	24904304	missense	probably benign	0.12
R9341:Med23	UTSW	10	24912807	missense	probably benign
R9342:Med23	UTSW	10	24874571	missense	probably benign	0.01
R9343:Med23	UTSW	10	24912807	missense	probably benign
R9412:Med23	UTSW	10	24902121	missense	probably damaging	1.00
RF003:Med23	UTSW	10	24903785	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATTTAAGGAGGCATGTGC -3'
(R):5'- TTACTACATGGCGTGCTCAGC -3'

Sequencing Primer
(F):5'- GTAGCTCTTTTGTGCTCGC -3'
(R):5'- GTGCTCAGCCTATCTGTTCATAAAGG -3'

Posted On

2022-01-20