Incidental Mutation 'R1851:Med23'
ID 208101
Institutional Source Beutler Lab
Gene Symbol Med23
Ensembl Gene ENSMUSG00000019984
Gene Name mediator complex subunit 23
Synonyms X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2
MMRRC Submission 039875-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1851 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24869986-24913681 bp(+) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 24910870 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000020161] [ENSMUST00000092646] [ENSMUST00000176285] [ENSMUST00000177232]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000020159
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020161
SMART Domains Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987

DomainStartEndE-ValueType
Pfam:Arginase 6 305 1.4e-79 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000092646
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176285
SMART Domains Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Med23 3 58 1.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218260
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik A G 12: 18,533,686 (GRCm38) E225G possibly damaging Het
Abcb7 T C X: 104,305,399 (GRCm38) M153V probably benign Het
Abi1 A T 2: 22,950,264 (GRCm38) V329D possibly damaging Het
Ablim3 G A 18: 61,849,395 (GRCm38) H160Y probably benign Het
Acox3 A T 5: 35,609,062 (GRCm38) D624V possibly damaging Het
Adam6b A G 12: 113,491,822 (GRCm38) D753G probably benign Het
Ago1 C A 4: 126,439,995 (GRCm38) R771L probably benign Het
Aktip A G 8: 91,125,877 (GRCm38) V217A possibly damaging Het
Ankk1 A C 9: 49,415,850 (GRCm38) H676Q probably benign Het
Arl1 G C 10: 88,733,546 (GRCm38) probably benign Het
Asxl3 T A 18: 22,517,739 (GRCm38) D928E probably damaging Het
AW209491 T C 13: 14,636,733 (GRCm38) V57A possibly damaging Het
B3galt4 G T 17: 33,950,911 (GRCm38) Q118K probably benign Het
Ccdc187 A T 2: 26,276,068 (GRCm38) M783K probably benign Het
Cdon T G 9: 35,483,158 (GRCm38) M900R probably damaging Het
Ceacam5 G A 7: 17,714,910 (GRCm38) W67* probably null Het
Chd5 A G 4: 152,378,270 (GRCm38) S1356G probably damaging Het
Chil3 C T 3: 106,148,801 (GRCm38) probably null Het
Chmp7 C T 14: 69,719,450 (GRCm38) M336I probably benign Het
Cntn1 C T 15: 92,305,140 (GRCm38) R768C probably damaging Het
Col6a3 T A 1: 90,807,534 (GRCm38) I798F possibly damaging Het
Cpxcr1 T A X: 116,478,061 (GRCm38) L223* probably null Het
Cpz C A 5: 35,502,558 (GRCm38) R581L possibly damaging Het
Cxcr2 A G 1: 74,159,279 (GRCm38) I311V probably benign Het
Cym T A 3: 107,218,714 (GRCm38) I78F probably benign Het
Defb8 A T 8: 19,445,883 (GRCm38) S54T probably benign Het
Dennd4a A G 9: 64,862,030 (GRCm38) T433A probably damaging Het
Dhx29 A G 13: 112,948,281 (GRCm38) T678A probably damaging Het
Dspp T C 5: 104,174,085 (GRCm38) probably null Het
Enkur G T 2: 21,189,177 (GRCm38) A195E probably benign Het
Ero1lb T A 13: 12,604,403 (GRCm38) S429T possibly damaging Het
Fh1 A G 1: 175,607,886 (GRCm38) S344P probably damaging Het
Flnc G T 6: 29,443,479 (GRCm38) G553V probably damaging Het
Fmo1 A T 1: 162,829,985 (GRCm38) L529* probably null Het
Frem1 C A 4: 82,950,500 (GRCm38) V1415F probably damaging Het
Gatb T G 3: 85,618,877 (GRCm38) L354R probably damaging Het
Gdpgp1 A T 7: 80,238,601 (GRCm38) N127Y probably damaging Het
Gm11492 T A 11: 87,568,915 (GRCm38) D496E probably damaging Het
Gm13084 T C 4: 143,812,826 (GRCm38) I32M probably benign Het
Gm13212 T G 4: 145,624,250 (GRCm38) probably benign Het
Gpat2 A G 2: 127,434,819 (GRCm38) T648A possibly damaging Het
Grk6 C T 13: 55,451,778 (GRCm38) R225* probably null Het
Hells A T 19: 38,959,676 (GRCm38) Q682L probably null Het
Hspa5 T A 2: 34,774,678 (GRCm38) N381K possibly damaging Het
Ighmbp2 T C 19: 3,262,075 (GRCm38) N893S probably benign Het
Ipo11 A T 13: 106,812,257 (GRCm38) V914E possibly damaging Het
Lars T C 18: 42,212,608 (GRCm38) N1001S probably benign Het
Lats2 A G 14: 57,697,455 (GRCm38) L606P probably damaging Het
Map4k1 T C 7: 28,999,784 (GRCm38) Y521H probably benign Het
March11 T A 15: 26,387,830 (GRCm38) V257E probably damaging Het
Meltf A G 16: 31,896,577 (GRCm38) D696G probably benign Het
Ms4a7 T A 19: 11,324,424 (GRCm38) M212L probably benign Het
Mx1 A T 16: 97,448,203 (GRCm38) L608Q probably damaging Het
Myh1 T C 11: 67,204,398 (GRCm38) Y195H probably damaging Het
Napb G T 2: 148,706,989 (GRCm38) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,182,616 (GRCm38) I134L possibly damaging Het
Nup210 A G 6: 91,016,054 (GRCm38) L1017P probably damaging Het
Nup85 T A 11: 115,581,817 (GRCm38) I233N probably damaging Het
Obsl1 A G 1: 75,492,893 (GRCm38) V965A probably damaging Het
Olfr1259 A C 2: 89,943,814 (GRCm38) Y100* probably null Het
Olfr1310 T C 2: 112,008,691 (GRCm38) D165G probably benign Het
Olfr787 T C 10: 129,463,501 (GRCm38) L275P probably damaging Het
Pak1ip1 A G 13: 41,011,232 (GRCm38) T264A possibly damaging Het
Pard6g C T 18: 80,117,142 (GRCm38) R157C probably damaging Het
Pcdhb7 A T 18: 37,342,578 (GRCm38) T256S possibly damaging Het
Phrf1 T C 7: 141,240,918 (GRCm38) F153L probably damaging Het
Pigw A T 11: 84,878,048 (GRCm38) F152I probably damaging Het
Pip4k2c A G 10: 127,200,875 (GRCm38) S222P probably damaging Het
Pjvk A G 2: 76,657,431 (GRCm38) probably null Het
Plxnd1 C T 6: 115,963,914 (GRCm38) V1355M probably damaging Het
Prss22 G A 17: 23,996,314 (GRCm38) P163S probably damaging Het
Prune2 A G 19: 17,199,139 (GRCm38) I154V probably damaging Het
Rapgef6 T A 11: 54,642,811 (GRCm38) D362E probably benign Het
Retreg2 A G 1: 75,146,675 (GRCm38) K416E probably benign Het
Scn7a T C 2: 66,680,291 (GRCm38) I1256V probably benign Het
Sema4d A G 13: 51,711,222 (GRCm38) V362A possibly damaging Het
Slc25a34 G A 4: 141,622,268 (GRCm38) T192I probably benign Het
Tacc3 G T 5: 33,668,200 (GRCm38) V425L probably benign Het
Tfdp2 A T 9: 96,297,709 (GRCm38) K125I probably damaging Het
Tjp2 C T 19: 24,099,535 (GRCm38) R952Q possibly damaging Het
Tk2 G T 8: 104,248,445 (GRCm38) S30* probably null Het
Tmem74 A T 15: 43,867,163 (GRCm38) D161E probably benign Het
Tmprss9 G A 10: 80,892,285 (GRCm38) V570M probably damaging Het
Tnk2 C A 16: 32,679,462 (GRCm38) P26Q probably damaging Het
Tnpo2 T G 8: 85,051,772 (GRCm38) V610G probably damaging Het
Trim37 T C 11: 87,218,306 (GRCm38) F953S probably damaging Het
U2surp T A 9: 95,482,097 (GRCm38) K589* probably null Het
Usp2 G A 9: 44,075,966 (GRCm38) R187H probably benign Het
Vmn2r1 C T 3: 64,101,505 (GRCm38) T535I probably benign Het
Wdr20rt T A 12: 65,227,151 (GRCm38) S463T possibly damaging Het
Zbtb25 C A 12: 76,349,714 (GRCm38) G245W probably damaging Het
Zc3h14 T A 12: 98,760,354 (GRCm38) L27* probably null Het
Zfp2 T C 11: 50,901,088 (GRCm38) K43E probably benign Het
Zfp654 A G 16: 64,785,128 (GRCm38) Y904H 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
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
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'- ACTGTCCCTCTGCACAAGTG -3'
(R):5'- ACAGGGAAAGCTAAGAGATCGTTTC -3'

Sequencing Primer
(F):5'- AAGTGCCATCCCGTGTCAGTG -3'
(R):5'- GCTAAGAGATCGTTTCTTTATCACTG -3'
Posted On 2014-06-23