Incidental Mutation 'R8023:Med24'
ID 617544
Institutional Source Beutler Lab
Gene Symbol Med24
Ensembl Gene ENSMUSG00000017210
Gene Name mediator complex subunit 24
Synonyms D11Ertd307e, 100kDa, Pparb2, DRIP100, R75526, Thrap4, Trap100, Gse2
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98595423-98620245 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 98609321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000100500] [ENSMUST00000126565] [ENSMUST00000138750]
AlphaFold Q99K74
Predicted Effect probably null
Transcript: ENSMUST00000017354
SMART Domains Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 985 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100500
SMART Domains Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 1004 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126565
SMART Domains Protein: ENSMUSP00000118820
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 90 5.6e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138750
SMART Domains Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 46 1.4e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene may form a submodule of the mediator complex that magnifies the effects of activators on the general transcription machinery. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die prior to birth exhibiting abnormal heart development, neural tube defects, and anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
H2ac20 A G 3: 96,128,106 (GRCm39) S19P unknown Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Il6ra A G 3: 89,820,260 (GRCm39) probably null Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Mpz A G 1: 170,987,602 (GRCm39) D246G probably damaging Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Ndufs2 A T 1: 171,064,263 (GRCm39) M375K probably damaging Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Pds5a A T 5: 65,795,241 (GRCm39) L665Q probably damaging Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null Het
Other mutations in Med24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Med24 APN 11 98,600,508 (GRCm39) missense probably damaging 0.99
IGL01960:Med24 APN 11 98,598,368 (GRCm39) missense probably benign
IGL02119:Med24 APN 11 98,619,661 (GRCm39) missense probably benign 0.14
IGL02681:Med24 APN 11 98,600,565 (GRCm39) nonsense probably null
IGL03038:Med24 APN 11 98,607,010 (GRCm39) missense possibly damaging 0.93
IGL03377:Med24 APN 11 98,595,962 (GRCm39) missense possibly damaging 0.67
R1186:Med24 UTSW 11 98,608,583 (GRCm39) utr 3 prime probably benign
R1887:Med24 UTSW 11 98,609,642 (GRCm39) critical splice donor site probably benign
R1888:Med24 UTSW 11 98,598,108 (GRCm39) utr 3 prime probably benign
R1936:Med24 UTSW 11 98,609,642 (GRCm39) critical splice donor site probably null
R2063:Med24 UTSW 11 98,606,472 (GRCm39) missense probably damaging 0.98
R3895:Med24 UTSW 11 98,597,214 (GRCm39) missense probably benign
R4328:Med24 UTSW 11 98,597,942 (GRCm39) critical splice donor site probably null
R4751:Med24 UTSW 11 98,597,258 (GRCm39) missense probably damaging 0.98
R5195:Med24 UTSW 11 98,601,107 (GRCm39) missense possibly damaging 0.71
R5237:Med24 UTSW 11 98,601,609 (GRCm39) missense probably damaging 0.98
R6047:Med24 UTSW 11 98,598,591 (GRCm39) nonsense probably null
R6834:Med24 UTSW 11 98,595,850 (GRCm39) splice site probably null
R6984:Med24 UTSW 11 98,609,368 (GRCm39) missense possibly damaging 0.51
R7015:Med24 UTSW 11 98,609,678 (GRCm39) missense possibly damaging 0.51
R7244:Med24 UTSW 11 98,605,223 (GRCm39) splice site probably null
R7479:Med24 UTSW 11 98,595,787 (GRCm39) missense possibly damaging 0.52
R7536:Med24 UTSW 11 98,603,447 (GRCm39) missense possibly damaging 0.52
R7594:Med24 UTSW 11 98,605,923 (GRCm39) missense probably damaging 0.98
R7667:Med24 UTSW 11 98,603,990 (GRCm39) missense possibly damaging 0.71
R7745:Med24 UTSW 11 98,595,793 (GRCm39) missense probably damaging 0.98
R8146:Med24 UTSW 11 98,608,940 (GRCm39) missense probably benign 0.08
R8382:Med24 UTSW 11 98,608,537 (GRCm39) missense unknown
R8442:Med24 UTSW 11 98,598,383 (GRCm39) missense probably benign 0.32
R8806:Med24 UTSW 11 98,595,970 (GRCm39) missense probably damaging 0.99
R9388:Med24 UTSW 11 98,600,893 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ACCTAGTCTAGCCAGCTTCCAC -3'
(R):5'- ATTTCCATGTGGCAAGTCTGTG -3'

Sequencing Primer
(F):5'- GCTTCCACTAGACGAGATCTTAGAG -3'
(R):5'- TGGCAAGTCTGTGGCCCAG -3'
Posted On 2020-01-23