Incidental Mutation 'R8806:Med24'
ID 672086
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 068612-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8806 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98595423-98620245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98595970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 941 (I941N)
Ref Sequence ENSEMBL: ENSMUSP00000017354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000038886] [ENSMUST00000100500] [ENSMUST00000138750]
AlphaFold Q99K74
Predicted Effect probably damaging
Transcript: ENSMUST00000017354
AA Change: I941N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210
AA Change: I941N

Pfam:Med24_N 1 985 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038886
SMART Domains Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067

signal peptide 1 30 N/A INTRINSIC
low complexity region 31 54 N/A INTRINSIC
IL6 57 205 3.59e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100500
AA Change: I960N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210
AA Change: I960N

Pfam:Med24_N 1 1004 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138750
SMART Domains Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210

Pfam:Med24_N 1 46 1.4e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,084,520 (GRCm39) M586V probably benign Het
Adam6b G A 12: 113,455,418 (GRCm39) R745H possibly damaging Het
Afg3l1 A G 8: 124,220,657 (GRCm39) D462G probably damaging Het
Anapc1 T A 2: 128,464,333 (GRCm39) Q1721L possibly damaging Het
Arhgap11a T C 2: 113,665,107 (GRCm39) Y497C possibly damaging Het
Bcl7b T G 5: 135,208,824 (GRCm39) S96A possibly damaging Het
Birc6 T C 17: 74,949,311 (GRCm39) V3111A probably damaging Het
Cbx1 A G 11: 96,692,383 (GRCm39) D90G possibly damaging Het
Cdkl3 T C 11: 51,923,295 (GRCm39) F524S possibly damaging Het
Cops7b G A 1: 86,517,031 (GRCm39) G44R probably damaging Het
D130043K22Rik A G 13: 25,083,618 (GRCm39) S1028G probably benign Het
Decr1 T A 4: 15,945,351 (GRCm39) M1L probably benign Het
Dmtn T C 14: 70,852,388 (GRCm39) I167V probably benign Het
Dnah9 A G 11: 65,750,309 (GRCm39) L3932P probably damaging Het
Ece1 T A 4: 137,672,452 (GRCm39) I365N probably damaging Het
Efcab3 T A 11: 104,928,695 (GRCm39) M4815K probably benign Het
Exo5 T C 4: 120,779,602 (GRCm39) T88A probably benign Het
Frem3 T C 8: 81,390,064 (GRCm39) Y1772H probably benign Het
Gm5160 A G 18: 14,557,931 (GRCm39) N3D possibly damaging Het
Gm7138 T A 10: 77,612,717 (GRCm39) D21V unknown Het
Gm7298 C A 6: 121,761,641 (GRCm39) silent Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Islr C A 9: 58,064,256 (GRCm39) G417V unknown Het
Kif13a A T 13: 46,914,813 (GRCm39) M1458K possibly damaging Het
Mcm7 T C 5: 138,163,347 (GRCm39) D642G possibly damaging Het
Mrgprb8 C T 7: 48,038,976 (GRCm39) P216S possibly damaging Het
Myo5c T A 9: 75,150,054 (GRCm39) V13D probably damaging Het
N4bp2 T A 5: 65,965,551 (GRCm39) I1200K possibly damaging Het
Naip6 G A 13: 100,437,161 (GRCm39) T454M possibly damaging Het
Nfkb1 T C 3: 135,295,213 (GRCm39) Y877C probably damaging Het
Nolc1 C A 19: 46,071,471 (GRCm39) S473R unknown Het
Nop16 A C 13: 54,737,672 (GRCm39) probably benign Het
Nr3c2 T C 8: 77,969,092 (GRCm39) I959T probably damaging Het
Nup88 T G 11: 70,834,941 (GRCm39) K692N probably benign Het
Nvl C A 1: 180,922,619 (GRCm39) G818V probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or4k6 T A 14: 50,475,376 (GRCm39) E322V probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or4s2b T C 2: 88,508,955 (GRCm39) V245A probably benign Het
Or8b49 A T 9: 38,506,405 (GRCm39) D296V probably damaging Het
Or8k1 T C 2: 86,047,200 (GRCm39) I285V probably damaging Het
Plxnc1 G A 10: 94,635,140 (GRCm39) S1362L probably damaging Het
Ppfia2 C T 10: 106,694,114 (GRCm39) A696V probably damaging Het
Prl A G 13: 27,243,515 (GRCm39) Y62C probably damaging Het
Rnf135 A G 11: 80,089,762 (GRCm39) D366G probably damaging Het
Rrp8 A G 7: 105,384,244 (GRCm39) L86P probably damaging Het
Rsph4a T C 10: 33,785,445 (GRCm39) V452A probably damaging Het
Runx2 C A 17: 44,950,570 (GRCm39) V410L probably benign Het
Samd9l T C 6: 3,376,665 (GRCm39) T199A probably damaging Het
Sik3 T C 9: 46,120,365 (GRCm39) S745P probably damaging Het
Slc35e1 T A 8: 73,241,973 (GRCm39) S250C probably damaging Het
Snx31 A G 15: 36,537,698 (GRCm39) F160S probably damaging Het
Spata31g1 A G 4: 42,971,261 (GRCm39) D198G probably benign Het
Stim2 T A 5: 54,156,257 (GRCm39) V11E probably benign Het
Tektl1 A G 10: 78,588,306 (GRCm39) V168A probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tox4 T C 14: 52,524,318 (GRCm39) S151P probably damaging Het
Trim34b A T 7: 103,985,319 (GRCm39) D318V probably damaging Het
Ubtd1 T C 19: 42,022,195 (GRCm39) S156P probably damaging Het
Usp34 C A 11: 23,434,143 (GRCm39) L3240M Het
Vmn1r56 T C 7: 5,198,805 (GRCm39) S271G probably damaging Het
Vps13b T C 15: 35,472,212 (GRCm39) probably benign Het
Vps13c T C 9: 67,853,110 (GRCm39) F2401S probably damaging Het
Zbtb11 G A 16: 55,802,637 (GRCm39) V216I probably damaging Het
Zfp931 T C 2: 177,709,589 (GRCm39) T266A possibly damaging Het
Zfp956 A G 6: 47,933,042 (GRCm39) M106V probably benign 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
R8023:Med24 UTSW 11 98,609,321 (GRCm39) critical splice donor site probably null
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
R9388:Med24 UTSW 11 98,600,893 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-04-30