Incidental Mutation 'R1851:Med23'
ID 208101
Institutional Source Beutler Lab
Gene Symbol Med23
Ensembl Gene ENSMUSG00000019984
Gene Name mediator complex subunit 23
Synonyms ESTM7, 3000002A17Rik, X83317, Sur2, Crsp3, sno
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 24745889-24789358 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 24786768 bp (GRCm39)
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: 18,583,687 (GRCm39) E225G possibly damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Abi1 A T 2: 22,840,276 (GRCm39) V329D possibly damaging Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acox3 A T 5: 35,766,406 (GRCm39) D624V possibly damaging Het
Adam6b A G 12: 113,455,442 (GRCm39) D753G probably benign Het
Ago1 C A 4: 126,333,788 (GRCm39) R771L probably benign Het
Aktip A G 8: 91,852,505 (GRCm39) V217A possibly damaging Het
Ankk1 A C 9: 49,327,150 (GRCm39) H676Q probably benign Het
Arl1 G C 10: 88,569,408 (GRCm39) probably benign Het
Asxl3 T A 18: 22,650,796 (GRCm39) D928E probably damaging Het
AW209491 T C 13: 14,811,318 (GRCm39) V57A possibly damaging Het
B3galt4 G T 17: 34,169,885 (GRCm39) Q118K probably benign Het
Ccdc187 A T 2: 26,166,080 (GRCm39) M783K probably benign Het
Cdon T G 9: 35,394,454 (GRCm39) M900R probably damaging Het
Ceacam5 G A 7: 17,448,835 (GRCm39) W67* probably null Het
Chd5 A G 4: 152,462,727 (GRCm39) S1356G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cpz C A 5: 35,659,902 (GRCm39) R581L possibly damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cym T A 3: 107,126,030 (GRCm39) I78F probably benign Het
Defb8 A T 8: 19,495,899 (GRCm39) S54T probably benign Het
Dennd4a A G 9: 64,769,312 (GRCm39) T433A probably damaging Het
Dhx29 A G 13: 113,084,815 (GRCm39) T678A probably damaging Het
Dspp T C 5: 104,321,951 (GRCm39) probably null Het
Enkur G T 2: 21,193,988 (GRCm39) A195E probably benign Het
Ero1b T A 13: 12,619,292 (GRCm39) S429T possibly damaging Het
Fh1 A G 1: 175,435,452 (GRCm39) S344P probably damaging Het
Flnc G T 6: 29,443,478 (GRCm39) G553V probably damaging Het
Fmo1 A T 1: 162,657,554 (GRCm39) L529* probably null Het
Frem1 C A 4: 82,868,737 (GRCm39) V1415F probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gdpgp1 A T 7: 79,888,349 (GRCm39) N127Y probably damaging Het
Gpat2 A G 2: 127,276,739 (GRCm39) T648A possibly damaging Het
Grk6 C T 13: 55,599,591 (GRCm39) R225* probably null Het
Hells A T 19: 38,948,120 (GRCm39) Q682L probably null Het
Hspa5 T A 2: 34,664,690 (GRCm39) N381K possibly damaging Het
Ighmbp2 T C 19: 3,312,075 (GRCm39) N893S probably benign Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lats2 A G 14: 57,934,912 (GRCm39) L606P probably damaging Het
Map4k1 T C 7: 28,699,209 (GRCm39) Y521H probably benign Het
Marchf11 T A 15: 26,387,916 (GRCm39) V257E probably damaging Het
Meltf A G 16: 31,715,395 (GRCm39) D696G probably benign Het
Ms4a7 T A 19: 11,301,788 (GRCm39) M212L probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myh1 T C 11: 67,095,224 (GRCm39) Y195H probably damaging Het
Napb G T 2: 148,548,909 (GRCm39) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,073,442 (GRCm39) I134L possibly damaging Het
Nup210 A G 6: 90,993,036 (GRCm39) L1017P probably damaging Het
Nup85 T A 11: 115,472,643 (GRCm39) I233N probably damaging Het
Obsl1 A G 1: 75,469,537 (GRCm39) V965A probably damaging Het
Or4c12 A C 2: 89,774,158 (GRCm39) Y100* probably null Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Or6c5c T C 10: 129,299,370 (GRCm39) L275P probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Pard6g C T 18: 80,160,357 (GRCm39) R157C probably damaging Het
Pcdhb7 A T 18: 37,475,631 (GRCm39) T256S possibly damaging Het
Phrf1 T C 7: 140,820,831 (GRCm39) F153L probably damaging Het
Pigw A T 11: 84,768,874 (GRCm39) F152I probably damaging Het
Pip4k2c A G 10: 127,036,744 (GRCm39) S222P probably damaging Het
Pjvk A G 2: 76,487,775 (GRCm39) probably null Het
Plxnd1 C T 6: 115,940,875 (GRCm39) V1355M probably damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Scn7a T C 2: 66,510,635 (GRCm39) I1256V probably benign Het
Sema4d A G 13: 51,865,258 (GRCm39) V362A possibly damaging Het
Septin4 T A 11: 87,459,741 (GRCm39) D496E probably damaging Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Tacc3 G T 5: 33,825,544 (GRCm39) V425L probably benign Het
Tfdp2 A T 9: 96,179,762 (GRCm39) K125I probably damaging Het
Tjp2 C T 19: 24,076,899 (GRCm39) R952Q possibly damaging Het
Tk2 G T 8: 104,975,077 (GRCm39) S30* probably null Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Tmprss9 G A 10: 80,728,119 (GRCm39) V570M probably damaging Het
Tnk2 C A 16: 32,498,280 (GRCm39) P26Q probably damaging Het
Tnpo2 T G 8: 85,778,401 (GRCm39) V610G probably damaging Het
Trim37 T C 11: 87,109,132 (GRCm39) F953S probably damaging Het
U2surp T A 9: 95,364,150 (GRCm39) K589* probably null Het
Usp2 G A 9: 43,987,263 (GRCm39) R187H probably benign Het
Vmn2r1 C T 3: 64,008,926 (GRCm39) T535I probably benign Het
Wdr20rt T A 12: 65,273,925 (GRCm39) S463T possibly damaging Het
Zbtb25 C A 12: 76,396,488 (GRCm39) G245W probably damaging Het
Zc3h14 T A 12: 98,726,613 (GRCm39) L27* probably null Het
Zfp2 T C 11: 50,791,915 (GRCm39) K43E probably benign Het
Zfp268 T G 4: 145,350,820 (GRCm39) probably benign Het
Zfp654 A G 16: 64,605,491 (GRCm39) Y904H probably benign Het
Other mutations in Med23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Med23 APN 10 24,764,482 (GRCm39) missense probably damaging 1.00
IGL00792:Med23 APN 10 24,752,902 (GRCm39) missense possibly damaging 0.93
IGL01289:Med23 APN 10 24,778,019 (GRCm39) missense probably damaging 1.00
IGL01469:Med23 APN 10 24,758,495 (GRCm39) missense probably damaging 1.00
IGL01598:Med23 APN 10 24,779,696 (GRCm39) missense probably benign 0.34
IGL02324:Med23 APN 10 24,773,239 (GRCm39) missense probably damaging 0.98
IGL02381:Med23 APN 10 24,776,626 (GRCm39) missense possibly damaging 0.95
IGL02465:Med23 APN 10 24,779,641 (GRCm39) missense probably damaging 0.96
IGL02554:Med23 APN 10 24,774,473 (GRCm39) critical splice donor site probably null
IGL02683:Med23 APN 10 24,746,615 (GRCm39) missense probably benign 0.00
PIT4362001:Med23 UTSW 10 24,750,469 (GRCm39) missense probably benign 0.01
R0080:Med23 UTSW 10 24,788,715 (GRCm39) missense probably benign 0.33
R0125:Med23 UTSW 10 24,776,686 (GRCm39) missense probably damaging 1.00
R0311:Med23 UTSW 10 24,773,256 (GRCm39) missense possibly damaging 0.95
R0765:Med23 UTSW 10 24,776,608 (GRCm39) missense probably damaging 1.00
R1302:Med23 UTSW 10 24,764,320 (GRCm39) splice site probably null
R1456:Med23 UTSW 10 24,779,550 (GRCm39) splice site probably benign
R1514:Med23 UTSW 10 24,768,565 (GRCm39) splice site probably benign
R1774:Med23 UTSW 10 24,779,584 (GRCm39) missense probably damaging 1.00
R1928:Med23 UTSW 10 24,785,710 (GRCm39) missense probably benign
R1975:Med23 UTSW 10 24,786,664 (GRCm39) missense probably benign 0.01
R2011:Med23 UTSW 10 24,755,653 (GRCm39) missense possibly damaging 0.63
R2266:Med23 UTSW 10 24,750,499 (GRCm39) missense probably benign 0.00
R2309:Med23 UTSW 10 24,746,586 (GRCm39) missense probably damaging 0.99
R2507:Med23 UTSW 10 24,786,711 (GRCm39) missense probably damaging 1.00
R2566:Med23 UTSW 10 24,764,473 (GRCm39) missense probably damaging 1.00
R3720:Med23 UTSW 10 24,767,018 (GRCm39) missense probably damaging 1.00
R3771:Med23 UTSW 10 24,778,099 (GRCm39) missense probably damaging 1.00
R3811:Med23 UTSW 10 24,768,491 (GRCm39) splice site probably null
R3811:Med23 UTSW 10 24,768,490 (GRCm39) nonsense probably null
R4305:Med23 UTSW 10 24,780,168 (GRCm39) nonsense probably null
R4323:Med23 UTSW 10 24,746,603 (GRCm39) missense probably benign 0.02
R4701:Med23 UTSW 10 24,769,546 (GRCm39) missense probably damaging 1.00
R4886:Med23 UTSW 10 24,750,581 (GRCm39) critical splice donor site probably null
R4925:Med23 UTSW 10 24,786,645 (GRCm39) missense probably damaging 1.00
R4943:Med23 UTSW 10 24,751,567 (GRCm39) missense possibly damaging 0.92
R5207:Med23 UTSW 10 24,771,734 (GRCm39) nonsense probably null
R5749:Med23 UTSW 10 24,764,347 (GRCm39) missense possibly damaging 0.84
R5806:Med23 UTSW 10 24,783,119 (GRCm39) missense probably damaging 1.00
R5896:Med23 UTSW 10 24,778,043 (GRCm39) missense probably damaging 1.00
R5954:Med23 UTSW 10 24,746,381 (GRCm39) splice site probably benign
R6031:Med23 UTSW 10 24,779,646 (GRCm39) nonsense probably null
R6031:Med23 UTSW 10 24,779,646 (GRCm39) nonsense probably null
R6093:Med23 UTSW 10 24,754,341 (GRCm39) missense probably benign 0.16
R6107:Med23 UTSW 10 24,781,932 (GRCm39) nonsense probably null
R6356:Med23 UTSW 10 24,764,311 (GRCm39) missense probably damaging 0.98
R6393:Med23 UTSW 10 24,749,374 (GRCm39) missense possibly damaging 0.91
R6533:Med23 UTSW 10 24,769,518 (GRCm39) missense probably damaging 1.00
R6911:Med23 UTSW 10 24,778,079 (GRCm39) missense probably damaging 0.98
R6981:Med23 UTSW 10 24,771,722 (GRCm39) missense possibly damaging 0.92
R7085:Med23 UTSW 10 24,746,019 (GRCm39) missense probably damaging 1.00
R7215:Med23 UTSW 10 24,764,327 (GRCm39) missense probably benign
R7229:Med23 UTSW 10 24,777,902 (GRCm39) missense probably benign
R7489:Med23 UTSW 10 24,780,254 (GRCm39) missense probably damaging 1.00
R7530:Med23 UTSW 10 24,781,851 (GRCm39) missense probably benign 0.00
R7643:Med23 UTSW 10 24,781,863 (GRCm39) missense probably benign 0.01
R7653:Med23 UTSW 10 24,780,282 (GRCm39) missense probably damaging 1.00
R7764:Med23 UTSW 10 24,785,818 (GRCm39) critical splice donor site probably null
R7784:Med23 UTSW 10 24,778,346 (GRCm39) missense probably damaging 1.00
R8024:Med23 UTSW 10 24,755,581 (GRCm39) missense possibly damaging 0.74
R8182:Med23 UTSW 10 24,788,705 (GRCm39) missense probably benign
R8412:Med23 UTSW 10 24,784,632 (GRCm39) missense probably benign 0.01
R8874:Med23 UTSW 10 24,771,617 (GRCm39) missense possibly damaging 0.92
R8975:Med23 UTSW 10 24,780,334 (GRCm39) missense probably benign 0.42
R9131:Med23 UTSW 10 24,780,279 (GRCm39) missense
R9202:Med23 UTSW 10 24,780,202 (GRCm39) missense probably benign 0.12
R9341:Med23 UTSW 10 24,788,705 (GRCm39) missense probably benign
R9342:Med23 UTSW 10 24,750,469 (GRCm39) missense probably benign 0.01
R9343:Med23 UTSW 10 24,788,705 (GRCm39) missense probably benign
R9412:Med23 UTSW 10 24,778,019 (GRCm39) missense probably damaging 1.00
RF003:Med23 UTSW 10 24,779,683 (GRCm39) 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