Incidental Mutation 'R0765:Med23'
ID 72614
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 038945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0765 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24745889-24789358 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24776608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 347 (S347P)
Ref Sequence ENSEMBL: ENSMUSP00000135232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176285] [ENSMUST00000177232]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020159
AA Change: S707P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
AA Change: S707P

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092646
AA Change: S713P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
AA Change: S713P

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176285
AA Change: S347P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
AA Change: S347P

DomainStartEndE-ValueType
Pfam:Med23 1 51 4.4e-14 PFAM
Pfam:Med23 48 950 N/A 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
Meta Mutation Damage Score 0.0928 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.7%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,827 (GRCm39) V425D probably benign Het
Ano9 T G 7: 140,687,097 (GRCm39) I381L probably damaging Het
Apob C T 12: 8,066,518 (GRCm39) L4496F probably benign Het
Arhgef38 C T 3: 132,822,344 (GRCm39) E724K probably damaging Het
Atp8b4 T A 2: 126,214,070 (GRCm39) probably null Het
Baiap2l1 G T 5: 144,214,513 (GRCm39) P394T probably damaging Het
Btbd8 T A 5: 107,654,800 (GRCm39) D354E probably benign Het
Cnbp C A 6: 87,822,155 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,375,811 (GRCm39) probably benign Het
Colq T G 14: 31,247,994 (GRCm39) D408A possibly damaging Het
Cuzd1 A T 7: 130,917,824 (GRCm39) S259T probably benign Het
Cyp3a57 A G 5: 145,327,220 (GRCm39) probably benign Het
Dbn1 C A 13: 55,630,107 (GRCm39) V112F probably damaging Het
Dcc T A 18: 71,496,061 (GRCm39) D1028V probably damaging Het
Dnajb11 T C 16: 22,681,318 (GRCm39) V32A probably damaging Het
Dsg4 G A 18: 20,587,703 (GRCm39) probably benign Het
Dyrk1b C T 7: 27,885,136 (GRCm39) probably benign Het
Ebf1 T A 11: 44,759,987 (GRCm39) M208K probably damaging Het
Efhc1 A G 1: 21,048,876 (GRCm39) I430V probably benign Het
Elovl2 T C 13: 41,340,942 (GRCm39) Y181C probably benign Het
Fras1 A G 5: 96,700,655 (GRCm39) Q225R probably benign Het
Frmd3 G A 4: 74,080,004 (GRCm39) R332Q probably damaging Het
Glg1 A G 8: 111,886,429 (GRCm39) probably null Het
Hmcn1 G A 1: 150,684,538 (GRCm39) T344M probably damaging Het
Il1rap T G 16: 26,529,382 (GRCm39) probably null Het
Klra1 A T 6: 130,356,055 (GRCm39) probably benign Het
Larp7 C A 3: 127,339,814 (GRCm39) K289N probably damaging Het
Lgr6 C A 1: 134,921,624 (GRCm39) G240V probably benign Het
Lrp10 G T 14: 54,705,547 (GRCm39) D246Y probably damaging Het
Map3k20 G A 2: 72,202,269 (GRCm39) V167I probably damaging Het
Mybph T C 1: 134,125,234 (GRCm39) V254A possibly damaging Het
Ndufv2 A G 17: 66,408,073 (GRCm39) probably benign Het
Nuf2 A T 1: 169,350,505 (GRCm39) probably benign Het
Nup210l T C 3: 90,027,184 (GRCm39) Y189H probably damaging Het
Or4c52 G A 2: 89,846,014 (GRCm39) V247I probably benign Het
Or51t4 C T 7: 102,597,939 (GRCm39) T79I probably damaging Het
Or5m13 T C 2: 85,749,049 (GRCm39) L260P probably damaging Het
Pdgfra C A 5: 75,348,648 (GRCm39) probably benign Het
Phlpp1 T C 1: 106,320,013 (GRCm39) L1336P probably damaging Het
Prpf38b T C 3: 108,818,734 (GRCm39) T9A possibly damaging Het
Rnf213 G A 11: 119,313,921 (GRCm39) probably null Het
Saal1 A T 7: 46,349,071 (GRCm39) V281E possibly damaging Het
Slc17a3 C T 13: 24,030,879 (GRCm39) Q186* probably null Het
Slc6a2 A G 8: 93,715,659 (GRCm39) T266A probably damaging Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Srfbp1 T C 18: 52,623,507 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tesk1 C T 4: 43,446,706 (GRCm39) P365S possibly damaging Het
Tmem127 C A 2: 127,099,069 (GRCm39) T201K probably damaging Het
Trim17 T G 11: 58,862,195 (GRCm39) V409G possibly damaging Het
Trim43c C T 9: 88,723,969 (GRCm39) T165I probably benign Het
Ush2a C A 1: 188,680,771 (GRCm39) F4916L possibly damaging Het
Vmn1r89 A G 7: 12,953,467 (GRCm39) M68V probably benign Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r105 T C 17: 20,448,119 (GRCm39) D235G probably damaging Het
Vmn2r-ps134 C T 17: 23,665,015 (GRCm39) noncoding transcript Het
Zdbf2 G A 1: 63,344,882 (GRCm39) S1087N possibly damaging Het
Zfp534 G A 4: 147,758,693 (GRCm39) P659S probably damaging 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
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
R1851:Med23 UTSW 10 24,786,768 (GRCm39) splice site probably null
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'- TTTACCAGTTCCAGCTACGGCG -3'
(R):5'- GCTATTACCAGGTCAAGCACTCCC -3'

Sequencing Primer
(F):5'- ATTCCCTTGGCCCAGGAAAG -3'
(R):5'- GGTCAAGCACTCCCTAGAAAG -3'
Posted On 2013-09-30