Incidental Mutation 'R2011:Med23'
ID 219732
Institutional Source Beutler Lab
Gene Symbol Med23
Ensembl Gene ENSMUSG00000019984
Gene Name mediator complex subunit 23
Synonyms X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2
MMRRC Submission 040020-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24869986-24913681 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24879755 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 83 (F83L)
Ref Sequence ENSEMBL: ENSMUSP00000134836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176313] [ENSMUST00000176502] [ENSMUST00000177232]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020159
AA Change: F253L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: F253L

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092646
AA Change: F253L

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: F253L

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176313
SMART Domains Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 1 197 1.7e-75 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176502
AA Change: F83L

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984
AA Change: F83L

DomainStartEndE-ValueType
Pfam:Med23 1 95 8.7e-36 PFAM
Pfam:Med23 92 234 3.8e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177175
Predicted Effect probably benign
Transcript: ENSMUST00000177232
SMART Domains Protein: ENSMUSP00000134866
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 3 58 1.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177522
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,042,742 (GRCm38) T100S probably benign Het
Adam6a T C 12: 113,545,378 (GRCm38) I457T probably benign Het
Aff3 T C 1: 38,207,915 (GRCm38) N863S probably benign Het
Agk C A 6: 40,376,234 (GRCm38) D177E probably benign Het
Alg9 C T 9: 50,788,200 (GRCm38) A209V probably damaging Het
Arl6 A T 16: 59,624,313 (GRCm38) I51K probably damaging Het
Bpi A T 2: 158,261,352 (GRCm38) H89L probably damaging Het
C1qtnf1 T A 11: 118,448,284 (GRCm38) F260Y probably benign Het
Cblc T A 7: 19,784,822 (GRCm38) D452V probably benign Het
Ccar1 T C 10: 62,776,694 (GRCm38) T231A probably benign Het
Ccdc112 A G 18: 46,287,432 (GRCm38) L417P probably damaging Het
Ccdc34 G A 2: 110,044,304 (GRCm38) R336Q possibly damaging Het
CK137956 A G 4: 127,951,036 (GRCm38) S305P probably benign Het
Clip2 T C 5: 134,503,115 (GRCm38) D612G probably damaging Het
Col28a1 T C 6: 8,059,360 (GRCm38) T692A probably benign Het
Copg2 A T 6: 30,816,741 (GRCm38) probably null Het
Ctnna2 T A 6: 76,973,791 (GRCm38) I566F possibly damaging Het
Cux2 C T 5: 121,861,326 (GRCm38) D1184N probably benign Het
Dclk3 A G 9: 111,468,354 (GRCm38) E322G probably benign Het
Ddx41 A T 13: 55,534,093 (GRCm38) probably null Het
Dnaaf2 G A 12: 69,196,785 (GRCm38) P107S probably damaging Het
Eif2ak4 A G 2: 118,430,947 (GRCm38) E578G probably damaging Het
Exd1 A G 2: 119,528,663 (GRCm38) probably benign Het
Fat2 G A 11: 55,282,757 (GRCm38) P2377S probably damaging Het
Fbxl18 T C 5: 142,872,459 (GRCm38) T741A probably benign Het
Fgr C A 4: 132,997,521 (GRCm38) A311E probably damaging Het
Fmo4 T C 1: 162,798,889 (GRCm38) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm38) V235A probably benign Het
Gm1110 T A 9: 26,894,258 (GRCm38) H366L probably benign Het
Gm43302 T C 5: 105,290,980 (GRCm38) N14S probably damaging Het
Gm5422 A G 10: 31,248,768 (GRCm38) noncoding transcript Het
Gm57858 A T 3: 36,010,678 (GRCm38) C515* probably null Het
Gpr21 A G 2: 37,517,535 (GRCm38) E31G probably damaging Het
Gucy1b2 G T 14: 62,408,758 (GRCm38) N560K probably damaging Het
Hmcn1 T C 1: 150,677,334 (GRCm38) Q2535R probably benign Het
Hnrnpm A T 17: 33,664,624 (GRCm38) N264K probably damaging Het
Hyal6 A T 6: 24,734,724 (GRCm38) I219L possibly damaging Het
Ifi211 A G 1: 173,907,603 (GRCm38) S87P probably damaging Het
Il17rb A T 14: 29,996,840 (GRCm38) C428* probably null Het
Iqca1 T C 1: 90,045,626 (GRCm38) N808S probably benign Het
Kcnu1 A G 8: 25,918,442 (GRCm38) I94V probably benign Het
Lrba A T 3: 86,310,017 (GRCm38) E517V probably damaging Het
Mcidas A G 13: 112,993,981 (GRCm38) E37G possibly damaging Het
Micu2 T C 14: 57,954,133 (GRCm38) probably null Het
Mrgprx2 A T 7: 48,482,534 (GRCm38) C179S probably damaging Het
Myo6 A G 9: 80,307,722 (GRCm38) T1236A probably damaging Het
Myo7a A T 7: 98,054,708 (GRCm38) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 76,909,793 (GRCm38) I508F possibly damaging Het
Or11g27 T C 14: 50,533,684 (GRCm38) S91P probably damaging Het
Or14a260 A T 7: 86,335,747 (GRCm38) Y216* probably null Het
Or2ag13 T C 7: 106,873,427 (GRCm38) I273V probably benign Het
Or5w1b A T 2: 87,645,889 (GRCm38) I78N probably damaging Het
Or8k23 A T 2: 86,356,186 (GRCm38) H65Q possibly damaging Het
Or9s13 T C 1: 92,620,749 (GRCm38) V281A probably benign Het
Oxct1 T C 15: 4,153,761 (GRCm38) S485P probably benign Het
Oxt A G 2: 130,576,652 (GRCm38) D61G probably damaging Het
P2ry10 A C X: 107,102,635 (GRCm38) I59L probably damaging Het
Parp11 A G 6: 127,477,891 (GRCm38) N124S probably benign Het
Pcdh7 T A 5: 57,719,629 (GRCm38) N175K probably damaging Het
Pdgfrb T A 18: 61,061,494 (GRCm38) S114R probably benign Het
Pfdn5 A G 15: 102,326,521 (GRCm38) N54S possibly damaging Het
Phc2 T A 4: 128,723,585 (GRCm38) V468E probably benign Het
Piezo2 T C 18: 63,059,744 (GRCm38) T1605A probably damaging Het
Pik3cb A T 9: 99,105,579 (GRCm38) Y35* probably null Het
Piwil2 A T 14: 70,426,634 (GRCm38) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm38) F101L probably damaging Het
Pomt2 A G 12: 87,111,399 (GRCm38) L680P possibly damaging Het
Ppp1r36 A G 12: 76,418,926 (GRCm38) probably null Het
Prkag2 C T 5: 24,871,054 (GRCm38) probably null Het
Prkg1 T C 19: 31,664,142 (GRCm38) D47G possibly damaging Het
Prl6a1 G A 13: 27,315,369 (GRCm38) G45D probably benign Het
Rbm20 G A 19: 53,859,428 (GRCm38) C1135Y probably damaging Het
Recql5 A T 11: 115,897,097 (GRCm38) N465K probably benign Het
Rlig1 T G 10: 100,583,958 (GRCm38) D58A probably damaging Het
Rtcb A T 10: 85,941,933 (GRCm38) I459N probably damaging Het
Rtp3 A T 9: 110,986,034 (GRCm38) probably benign Het
Rundc3b T A 5: 8,512,409 (GRCm38) probably null Het
Scube3 A G 17: 28,168,158 (GRCm38) T877A probably damaging Het
Sh2d4a A T 8: 68,346,742 (GRCm38) Q421L probably benign Het
Siglec1 A T 2: 131,083,357 (GRCm38) Y395N probably damaging Het
Slc6a1 G T 6: 114,307,770 (GRCm38) G263V probably damaging Het
Slco1c1 T A 6: 141,555,107 (GRCm38) F437L probably benign Het
Slco3a1 G A 7: 74,346,671 (GRCm38) A329V probably benign Het
Spag9 T A 11: 94,092,375 (GRCm38) L504* probably null Het
Spen A T 4: 141,473,329 (GRCm38) N2662K probably damaging Het
Sptb G C 12: 76,632,472 (GRCm38) R70G possibly damaging Het
Stk3 A G 15: 35,072,498 (GRCm38) S136P probably damaging Het
Synj1 A T 16: 90,938,696 (GRCm38) F1456L probably damaging Het
Tbx5 T C 5: 119,841,906 (GRCm38) probably null Het
Tchh G A 3: 93,446,961 (GRCm38) R1236Q unknown Het
Timd4 C A 11: 46,820,030 (GRCm38) T253K possibly damaging Het
Tmc6 A G 11: 117,769,406 (GRCm38) Y669H probably damaging Het
Tmem151a C T 19: 5,082,938 (GRCm38) R80H probably benign Het
Tpgs1 T C 10: 79,675,888 (GRCm38) L288P probably damaging Het
Trhde T C 10: 114,498,793 (GRCm38) I659V probably benign Het
Trpm7 A T 2: 126,823,997 (GRCm38) Y896* probably null Het
Ttc5 C A 14: 50,781,550 (GRCm38) E37* probably null Het
Uvrag A G 7: 98,939,889 (GRCm38) probably null Het
Vmn1r59 T A 7: 5,454,284 (GRCm38) D159V probably damaging Het
Vmn2r78 G A 7: 86,955,079 (GRCm38) V822M possibly damaging Het
Vnn1 C A 10: 23,894,971 (GRCm38) Y32* probably null Het
Wrn A G 8: 33,236,404 (GRCm38) V1380A probably benign Het
Zc3h14 A C 12: 98,780,268 (GRCm38) S579R possibly damaging Het
Zfp277 G A 12: 40,317,218 (GRCm38) Q480* probably null Het
Zfp456 G A 13: 67,366,874 (GRCm38) Q238* probably null Het
Zranb3 T A 1: 128,091,901 (GRCm38) T35S probably benign Het
Other mutations in Med23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Med23 APN 10 24,888,584 (GRCm38) missense probably damaging 1.00
IGL00792:Med23 APN 10 24,877,004 (GRCm38) missense possibly damaging 0.93
IGL01289:Med23 APN 10 24,902,121 (GRCm38) missense probably damaging 1.00
IGL01469:Med23 APN 10 24,882,597 (GRCm38) missense probably damaging 1.00
IGL01598:Med23 APN 10 24,903,798 (GRCm38) missense probably benign 0.34
IGL02324:Med23 APN 10 24,897,341 (GRCm38) missense probably damaging 0.98
IGL02381:Med23 APN 10 24,900,728 (GRCm38) missense possibly damaging 0.95
IGL02465:Med23 APN 10 24,903,743 (GRCm38) missense probably damaging 0.96
IGL02554:Med23 APN 10 24,898,575 (GRCm38) critical splice donor site probably null
IGL02683:Med23 APN 10 24,870,717 (GRCm38) missense probably benign 0.00
PIT4362001:Med23 UTSW 10 24,874,571 (GRCm38) missense probably benign 0.01
R0080:Med23 UTSW 10 24,912,817 (GRCm38) missense probably benign 0.33
R0125:Med23 UTSW 10 24,900,788 (GRCm38) missense probably damaging 1.00
R0311:Med23 UTSW 10 24,897,358 (GRCm38) missense possibly damaging 0.95
R0765:Med23 UTSW 10 24,900,710 (GRCm38) missense probably damaging 1.00
R1302:Med23 UTSW 10 24,888,422 (GRCm38) splice site probably null
R1456:Med23 UTSW 10 24,903,652 (GRCm38) splice site probably benign
R1514:Med23 UTSW 10 24,892,667 (GRCm38) splice site probably benign
R1774:Med23 UTSW 10 24,903,686 (GRCm38) missense probably damaging 1.00
R1851:Med23 UTSW 10 24,910,870 (GRCm38) splice site probably null
R1928:Med23 UTSW 10 24,909,812 (GRCm38) missense probably benign
R1975:Med23 UTSW 10 24,910,766 (GRCm38) missense probably benign 0.01
R2266:Med23 UTSW 10 24,874,601 (GRCm38) missense probably benign 0.00
R2309:Med23 UTSW 10 24,870,688 (GRCm38) missense probably damaging 0.99
R2507:Med23 UTSW 10 24,910,813 (GRCm38) missense probably damaging 1.00
R2566:Med23 UTSW 10 24,888,575 (GRCm38) missense probably damaging 1.00
R3720:Med23 UTSW 10 24,891,120 (GRCm38) missense probably damaging 1.00
R3771:Med23 UTSW 10 24,902,201 (GRCm38) missense probably damaging 1.00
R3811:Med23 UTSW 10 24,892,593 (GRCm38) splice site probably null
R3811:Med23 UTSW 10 24,892,592 (GRCm38) nonsense probably null
R4305:Med23 UTSW 10 24,904,270 (GRCm38) nonsense probably null
R4323:Med23 UTSW 10 24,870,705 (GRCm38) missense probably benign 0.02
R4701:Med23 UTSW 10 24,893,648 (GRCm38) missense probably damaging 1.00
R4886:Med23 UTSW 10 24,874,683 (GRCm38) critical splice donor site probably null
R4925:Med23 UTSW 10 24,910,747 (GRCm38) missense probably damaging 1.00
R4943:Med23 UTSW 10 24,875,669 (GRCm38) missense possibly damaging 0.92
R5207:Med23 UTSW 10 24,895,836 (GRCm38) nonsense probably null
R5749:Med23 UTSW 10 24,888,449 (GRCm38) missense possibly damaging 0.84
R5806:Med23 UTSW 10 24,907,221 (GRCm38) missense probably damaging 1.00
R5896:Med23 UTSW 10 24,902,145 (GRCm38) missense probably damaging 1.00
R5954:Med23 UTSW 10 24,870,483 (GRCm38) splice site probably benign
R6031:Med23 UTSW 10 24,903,748 (GRCm38) nonsense probably null
R6031:Med23 UTSW 10 24,903,748 (GRCm38) nonsense probably null
R6093:Med23 UTSW 10 24,878,443 (GRCm38) missense probably benign 0.16
R6107:Med23 UTSW 10 24,906,034 (GRCm38) nonsense probably null
R6356:Med23 UTSW 10 24,888,413 (GRCm38) missense probably damaging 0.98
R6393:Med23 UTSW 10 24,873,476 (GRCm38) missense possibly damaging 0.91
R6533:Med23 UTSW 10 24,893,620 (GRCm38) missense probably damaging 1.00
R6911:Med23 UTSW 10 24,902,181 (GRCm38) missense probably damaging 0.98
R6981:Med23 UTSW 10 24,895,824 (GRCm38) missense possibly damaging 0.92
R7085:Med23 UTSW 10 24,870,121 (GRCm38) missense probably damaging 1.00
R7215:Med23 UTSW 10 24,888,429 (GRCm38) missense probably benign
R7229:Med23 UTSW 10 24,902,004 (GRCm38) missense probably benign
R7489:Med23 UTSW 10 24,904,356 (GRCm38) missense probably damaging 1.00
R7530:Med23 UTSW 10 24,905,953 (GRCm38) missense probably benign 0.00
R7643:Med23 UTSW 10 24,905,965 (GRCm38) missense probably benign 0.01
R7653:Med23 UTSW 10 24,904,384 (GRCm38) missense probably damaging 1.00
R7764:Med23 UTSW 10 24,909,920 (GRCm38) critical splice donor site probably null
R7784:Med23 UTSW 10 24,902,448 (GRCm38) missense probably damaging 1.00
R8024:Med23 UTSW 10 24,879,683 (GRCm38) missense possibly damaging 0.74
R8182:Med23 UTSW 10 24,912,807 (GRCm38) missense probably benign
R8412:Med23 UTSW 10 24,908,734 (GRCm38) missense probably benign 0.01
R8874:Med23 UTSW 10 24,895,719 (GRCm38) missense possibly damaging 0.92
R8975:Med23 UTSW 10 24,904,436 (GRCm38) missense probably benign 0.42
R9131:Med23 UTSW 10 24,904,381 (GRCm38) missense
R9202:Med23 UTSW 10 24,904,304 (GRCm38) missense probably benign 0.12
R9341:Med23 UTSW 10 24,912,807 (GRCm38) missense probably benign
R9342:Med23 UTSW 10 24,874,571 (GRCm38) missense probably benign 0.01
R9343:Med23 UTSW 10 24,912,807 (GRCm38) missense probably benign
R9412:Med23 UTSW 10 24,902,121 (GRCm38) missense probably damaging 1.00
RF003:Med23 UTSW 10 24,903,785 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCATTGTAATCCAGGCAC -3'
(R):5'- GCACACACCATTTACTTCTCTAGAC -3'

Sequencing Primer
(F):5'- CACTGTAGCCCAGGCAC -3'
(R):5'- GTGACTCACAACCATCTGTAATGGG -3'
Posted On 2014-08-25