Incidental Mutation 'R4886:Med23'
ID 375738
Institutional Source Beutler Lab
Gene Symbol Med23
Ensembl Gene ENSMUSG00000019984
Gene Name mediator complex subunit 23
Synonyms X83317, 3000002A17Rik, ESTM7, Crsp3, Sur2
MMRRC Submission 042492-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4886 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24869986-24913681 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 24874683 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000020159] [ENSMUST00000092646] [ENSMUST00000176313] [ENSMUST00000176313] [ENSMUST00000176502] [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 null
Transcript: ENSMUST00000020159
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A 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: ENSMUST00000176313
SMART Domains Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 1 197 1.7e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176313
SMART Domains Protein: ENSMUSP00000135751
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 1 197 1.7e-75 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 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A T 2: 32,574,618 (GRCm38) probably benign Het
Aagab G C 9: 63,636,456 (GRCm38) A231P possibly damaging Het
Adgra3 C T 5: 49,999,195 (GRCm38) D398N probably benign Het
Ap3b1 A T 13: 94,472,805 (GRCm38) D616V possibly damaging Het
Apc2 T A 10: 80,314,213 (GRCm38) H1700Q probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Atp2b4 T A 1: 133,706,780 (GRCm38) I1177L probably benign Het
Card6 T C 15: 5,105,141 (GRCm38) probably null Het
Cdk13 A G 13: 17,719,734 (GRCm38) S1103P probably benign Het
Cdk6 G T 5: 3,344,444 (GRCm38) K26N possibly damaging Het
Cfap221 T C 1: 119,934,204 (GRCm38) T614A probably damaging Het
Cfap221 T A 1: 119,984,758 (GRCm38) Y133F probably damaging Het
Clcc1 A G 3: 108,676,838 (GRCm38) T513A probably benign Het
Clec4g T A 8: 3,716,419 (GRCm38) probably benign Het
Cntln A C 4: 84,971,229 (GRCm38) E316D probably benign Het
Col6a4 A G 9: 106,060,072 (GRCm38) I1415T probably benign Het
Cpne2 T A 8: 94,563,964 (GRCm38) D392E probably benign Het
Cpz T C 5: 35,506,704 (GRCm38) N496D probably damaging Het
Cyp3a59 A G 5: 146,087,387 (GRCm38) D61G probably damaging Het
Cyp4a29 T C 4: 115,252,881 (GRCm38) V440A probably benign Het
Dbn1 A T 13: 55,477,542 (GRCm38) probably benign Het
Ddx46 A G 13: 55,638,199 (GRCm38) D64G unknown Het
Dhrs7c G A 11: 67,809,794 (GRCm38) V56M probably damaging Het
Dnhd1 T A 7: 105,714,808 (GRCm38) H4122Q probably benign Het
Ecm2 A T 13: 49,522,787 (GRCm38) I327F possibly damaging Het
Elavl3 T C 9: 22,026,318 (GRCm38) K189E possibly damaging Het
Enam A T 5: 88,488,734 (GRCm38) R82* probably null Het
Fat3 T A 9: 16,021,330 (GRCm38) I1436F probably benign Het
Glt8d2 T C 10: 82,652,040 (GRCm38) probably benign Het
Gm13103 G T 4: 143,853,303 (GRCm38) R486L probably benign Het
Grin2c T C 11: 115,260,790 (GRCm38) T115A probably damaging Het
H6pd C T 4: 149,982,778 (GRCm38) V384M possibly damaging Het
Hba-x A G 11: 32,277,008 (GRCm38) E39G probably benign Het
Hcar2 G A 5: 123,865,197 (GRCm38) T81M probably benign Het
Herpud2 G A 9: 25,124,989 (GRCm38) P125L probably benign Het
Hnrnpul2 C T 19: 8,829,827 (GRCm38) P618S probably benign Het
Hpse2 T C 19: 43,384,764 (GRCm38) Y142C probably damaging Het
Iqcm A T 8: 75,888,600 (GRCm38) R436S possibly damaging Het
Itih1 A G 14: 30,936,701 (GRCm38) probably null Het
Kcnk10 T C 12: 98,435,159 (GRCm38) N405S possibly damaging Het
Klhl14 A T 18: 21,557,972 (GRCm38) probably null Het
L3mbtl3 T A 10: 26,292,770 (GRCm38) E587V unknown Het
Leap2 A T 11: 53,422,826 (GRCm38) F40I probably damaging Het
Leng8 T A 7: 4,144,931 (GRCm38) probably null Het
Lrrc66 A G 5: 73,608,567 (GRCm38) F378L probably benign Het
Mansc1 T C 6: 134,610,662 (GRCm38) H184R probably benign Het
Map10 T A 8: 125,670,692 (GRCm38) Y275N probably damaging Het
Mpp3 A G 11: 102,025,136 (GRCm38) Y55H probably benign Het
Mrpl17 T C 7: 105,810,053 (GRCm38) N112S probably benign Het
Nectin4 T C 1: 171,384,815 (GRCm38) V327A possibly damaging Het
Nlrp14 A T 7: 107,182,655 (GRCm38) H353L probably benign Het
Notch2 A T 3: 98,102,419 (GRCm38) Y554F probably damaging Het
Nphp3 T C 9: 104,002,994 (GRCm38) S72P probably damaging Het
Nrsn2 T C 2: 152,369,611 (GRCm38) K167E probably benign Het
Olfr1472 T C 19: 13,454,521 (GRCm38) probably null Het
Olfr1501 T A 19: 13,838,279 (GRCm38) E298V probably damaging Het
Olfr761 A T 17: 37,952,071 (GRCm38) S318T probably benign Het
Olfr948 T C 9: 39,319,585 (GRCm38) T10A probably benign Het
Osbpl9 T C 4: 109,068,367 (GRCm38) N485S probably benign Het
Pbk T A 14: 65,815,201 (GRCm38) H164Q probably damaging Het
Pfn2 G T 3: 57,847,453 (GRCm38) N10K probably damaging Het
Pi4ka A G 16: 17,358,361 (GRCm38) S405P Het
Pik3ca A G 3: 32,437,163 (GRCm38) D133G probably damaging Het
Prkar2a G A 9: 108,745,624 (GRCm38) probably null Het
Prl6a1 A T 13: 27,319,000 (GRCm38) D193V probably damaging Het
Psg25 A T 7: 18,524,913 (GRCm38) D279E probably benign Het
Rad21 G T 15: 51,968,500 (GRCm38) P395Q probably damaging Het
Rnf168 C A 16: 32,299,196 (GRCm38) T525K probably benign Het
Rpn2 T C 2: 157,318,044 (GRCm38) probably null Het
Rreb1 G A 13: 37,931,058 (GRCm38) V798M possibly damaging Het
Scgb3a2 C T 18: 43,766,754 (GRCm38) P36S probably damaging Het
Scn3a T C 2: 65,461,032 (GRCm38) D1790G probably damaging Het
Sec24b A T 3: 129,983,970 (GRCm38) H1226Q probably benign Het
Sec63 T A 10: 42,789,393 (GRCm38) Y106* probably null Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc12a3 G A 8: 94,351,810 (GRCm38) probably null Het
Slc6a1 T A 6: 114,302,533 (GRCm38) I91N possibly damaging Het
Slitrk6 T C 14: 110,751,883 (GRCm38) T131A probably damaging Het
Spata1 C G 3: 146,469,774 (GRCm38) D326H probably damaging Het
St8sia1 G A 6: 142,914,134 (GRCm38) L90F probably damaging Het
Tcrg-V4 T C 13: 19,185,066 (GRCm38) V29A probably benign Het
Thsd4 T A 9: 59,989,030 (GRCm38) Y657F probably benign Het
Thsd7a A T 6: 12,327,660 (GRCm38) C1404* probably null Het
Tma16 A C 8: 66,481,477 (GRCm38) C75W probably damaging Het
Trim3 T A 7: 105,617,840 (GRCm38) H444L probably damaging Het
Trmt10a A T 3: 138,148,385 (GRCm38) K75* probably null Het
Ttn T C 2: 76,731,300 (GRCm38) D28954G probably damaging Het
Uggt2 A G 14: 119,035,964 (GRCm38) probably null Het
Vars T A 17: 35,015,726 (GRCm38) V1177E probably benign Het
Vmn2r114 G T 17: 23,308,034 (GRCm38) A508E probably benign Het
Vmn2r19 G T 6: 123,309,841 (GRCm38) K144N probably benign Het
Wdr41 C T 13: 95,015,174 (GRCm38) Q281* probably null Het
Zfp938 T A 10: 82,226,123 (GRCm38) Q221L 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
R4701:Med23 UTSW 10 24,893,648 (GRCm38) missense probably damaging 1.00
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'- ACAGGTCATAGCCGTAGAGAATC -3'
(R):5'- TGGATTCTGCCTGTGACTTC -3'

Sequencing Primer
(F):5'- GTCATAGCCGTAGAGAATCTTTAGG -3'
(R):5'- AGTCCTGTGTGTCTTTTAAAATGTTG -3'
Posted On 2016-03-17