Incidental Mutation 'R4701:Med23'
ID 356053
Institutional Source Beutler Lab
Gene Symbol Med23
Ensembl Gene ENSMUSG00000019984
Gene Name mediator complex subunit 23
Synonyms X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2
MMRRC Submission 041949-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4701 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24869986-24913681 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24893648 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 476 (L476F)
Ref Sequence ENSEMBL: ENSMUSP00000090316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176285] [ENSMUST00000176502] [ENSMUST00000177232]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020159
AA Change: L470F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: L470F

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092646
AA Change: L476F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: L476F

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175786
Predicted Effect probably damaging
Transcript: ENSMUST00000176285
AA Change: L110F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: L110F

DomainStartEndE-ValueType
Pfam:Med23 1 51 4.4e-14 PFAM
Pfam:Med23 48 950 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176502
SMART Domains Protein: ENSMUSP00000134836
Gene: ENSMUSG00000019984

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179967
Meta Mutation Damage Score 0.0815 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 96% (108/112)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T C 11: 101,411,160 (GRCm38) I196V probably benign Het
Aass T A 6: 23,075,856 (GRCm38) K761* probably null Het
Abca13 A G 11: 9,292,306 (GRCm38) T1390A possibly damaging Het
Abhd16a T C 17: 35,096,606 (GRCm38) probably null Het
Acad11 C T 9: 104,095,565 (GRCm38) Q486* probably null Het
Actl9 T C 17: 33,433,935 (GRCm38) L323P probably benign Het
Adam12 T A 7: 133,916,462 (GRCm38) I650F possibly damaging Het
Adgre4 A T 17: 55,784,971 (GRCm38) D77V probably damaging Het
Ankrd26 A G 6: 118,506,485 (GRCm38) F1586S possibly damaging Het
Anpep T C 7: 79,839,465 (GRCm38) T320A probably benign Het
Arl15 T A 13: 113,967,725 (GRCm38) C133S probably benign Het
Ascc3 A G 10: 50,720,664 (GRCm38) N1230S possibly damaging Het
Atf4 T A 15: 80,257,417 (GRCm38) I336K probably damaging Het
Atp7b A T 8: 22,000,121 (GRCm38) S1044T probably benign Het
Atp8b4 A G 2: 126,414,293 (GRCm38) F249L probably damaging Het
AU021092 G T 16: 5,212,193 (GRCm38) N319K probably benign Het
Bbs4 A G 9: 59,323,519 (GRCm38) V440A probably benign Het
Bpifb4 G T 2: 153,950,385 (GRCm38) G450C probably damaging Het
Cadm1 G A 9: 47,818,822 (GRCm38) probably benign Het
Ccser2 G A 14: 36,938,697 (GRCm38) L500F probably damaging Het
Cd22 T A 7: 30,876,153 (GRCm38) I155F probably damaging Het
Cdkl4 A T 17: 80,543,652 (GRCm38) V207E probably damaging Het
Cfap65 T C 1: 74,918,908 (GRCm38) D947G probably damaging Het
Cntn6 T C 6: 104,804,360 (GRCm38) V397A probably benign Het
Cpox T A 16: 58,677,969 (GRCm38) Y388* probably null Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dda1 T A 8: 71,473,810 (GRCm38) Y58N probably damaging Het
Dennd4a C T 9: 64,897,357 (GRCm38) T1326I possibly damaging Het
Eps8l2 A T 7: 141,357,260 (GRCm38) I338F probably damaging Het
Fbxo42 A G 4: 141,199,809 (GRCm38) T467A probably benign Het
Flt4 T C 11: 49,626,808 (GRCm38) F319S possibly damaging Het
Fmn1 A T 2: 113,584,071 (GRCm38) Y895F possibly damaging Het
Gm6887 C A 7: 42,465,093 (GRCm38) noncoding transcript Het
Grid2 A G 6: 64,665,915 (GRCm38) D887G probably benign Het
Grm6 C T 11: 50,863,010 (GRCm38) P714S probably damaging Het
Gsto2 A G 19: 47,884,656 (GRCm38) I157V probably benign Het
Il15ra A G 2: 11,718,345 (GRCm38) probably null Het
Impg1 A G 9: 80,314,400 (GRCm38) F713L probably benign Het
Jag1 T A 2: 137,094,456 (GRCm38) T373S probably benign Het
Kcnh3 T A 15: 99,241,945 (GRCm38) L904Q probably benign Het
Kctd19 C A 8: 105,390,429 (GRCm38) G356V possibly damaging Het
Kdm5b T A 1: 134,606,012 (GRCm38) probably benign Het
Kif1a T C 1: 93,078,835 (GRCm38) I37V probably damaging Het
Lama5 G A 2: 180,191,696 (GRCm38) R1508C probably damaging Het
Lamb1 T A 12: 31,266,848 (GRCm38) C65* probably null Het
Lingo1 A G 9: 56,620,258 (GRCm38) F349S probably damaging Het
Loxl4 G A 19: 42,607,613 (GRCm38) H147Y probably benign Het
Lrrn4cl T A 19: 8,852,055 (GRCm38) N132K probably damaging Het
Med17 A T 9: 15,270,360 (GRCm38) H31Q probably damaging Het
Mgst1 A T 6: 138,150,838 (GRCm38) D66V probably damaging Het
Mroh2a A C 1: 88,241,618 (GRCm38) I672L probably benign Het
Mroh2a T C 1: 88,234,612 (GRCm38) probably null Het
Muc4 A T 16: 32,755,846 (GRCm38) probably benign Het
Myo18a C T 11: 77,817,665 (GRCm38) T30M probably damaging Het
Ncapg2 G T 12: 116,440,618 (GRCm38) R903L probably benign Het
Nme1 A G 11: 93,965,908 (GRCm38) I9T probably damaging Het
Nmt2 T A 2: 3,322,641 (GRCm38) I357N probably benign Het
Nphp4 T C 4: 152,496,659 (GRCm38) F100S probably damaging Het
Oca2 C A 7: 56,255,002 (GRCm38) T72K probably benign Het
Olfr1411 C A 1: 92,597,438 (GRCm38) D306E probably benign Het
Olfr625-ps1 G A 7: 103,683,062 (GRCm38) V105M probably damaging Het
Olfr676 A T 7: 105,035,591 (GRCm38) D131V probably damaging Het
Olfr677 A T 7: 105,056,879 (GRCm38) D211V probably damaging Het
Olfr871 T C 9: 20,212,625 (GRCm38) I92T probably damaging Het
Plce1 A T 19: 38,725,007 (GRCm38) T1240S probably benign Het
Plch1 A T 3: 63,699,496 (GRCm38) probably null Het
Plxna4 T C 6: 32,516,688 (GRCm38) D331G probably damaging Het
Ppp1r3a T C 6: 14,718,993 (GRCm38) T641A probably benign Het
Rab32 A G 10: 10,550,854 (GRCm38) L116P probably benign Het
Recql4 C T 15: 76,708,585 (GRCm38) C302Y probably damaging Het
Rorc G C 3: 94,391,710 (GRCm38) E391Q probably null Het
Saa4 A T 7: 46,731,627 (GRCm38) F24I possibly damaging Het
Sall1 T A 8: 89,031,160 (GRCm38) K772M probably damaging Het
Sdk1 T G 5: 142,185,231 (GRCm38) L1950V probably damaging Het
Sil1 T C 18: 35,266,896 (GRCm38) E352G probably benign Het
Slc26a3 C T 12: 31,447,774 (GRCm38) P59L probably damaging Het
Smco2 T C 6: 146,861,942 (GRCm38) probably benign Het
Sppl3 A G 5: 115,103,313 (GRCm38) probably null Het
St6gal2 T A 17: 55,496,344 (GRCm38) V360D probably damaging Het
Stard9 G A 2: 120,705,713 (GRCm38) R345Q possibly damaging Het
Susd4 T A 1: 182,892,061 (GRCm38) Y414N probably damaging Het
Tenm4 T C 7: 96,895,349 (GRCm38) Y2191H probably damaging Het
Tln2 A G 9: 67,346,527 (GRCm38) V754A probably benign Het
Tmem132c T A 5: 127,564,496 (GRCm38) probably benign Het
Tnn A T 1: 160,147,768 (GRCm38) S30T possibly damaging Het
Trpd52l3 G T 19: 30,004,495 (GRCm38) V217F probably damaging Het
Trpm1 G T 7: 64,243,500 (GRCm38) L1033F probably damaging Het
Tulp2 A G 7: 45,517,924 (GRCm38) E182G probably damaging Het
Ubr4 A G 4: 139,471,336 (GRCm38) K4490R possibly damaging Het
Usp17la A T 7: 104,860,649 (GRCm38) R154* probably null Het
Vmn2r17 T G 5: 109,427,983 (GRCm38) M240R probably damaging Het
Vmn2r22 T A 6: 123,650,469 (GRCm38) N56I probably benign Het
Wdr66 A G 5: 123,322,613 (GRCm38) K1213E probably benign Het
Zdhhc21 A T 4: 82,820,334 (GRCm38) I206N possibly damaging Het
Zfp148 T A 16: 33,456,908 (GRCm38) D122E probably benign Het
Zfp804a A T 2: 82,256,582 (GRCm38) S252C probably damaging Het
Zgrf1 C T 3: 127,598,704 (GRCm38) T1291I 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
R2011:Med23 UTSW 10 24,879,755 (GRCm38) missense possibly damaging 0.63
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
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'- ATGAAGCGCCATCTGCAATATTAC -3'
(R):5'- TGAATCCAGGAGGTTCATCGG -3'

Sequencing Primer
(F):5'- CAAGCTTTAATAGGTACAGCCACTG -3'
(R):5'- TCATCGGTAAGGGAGTCACTG -3'
Posted On 2015-10-21