Incidental Mutation 'R2106:Med21'
ID 230972
Institutional Source Beutler Lab
Gene Symbol Med21
Ensembl Gene ENSMUSG00000030291
Gene Name mediator complex subunit 21
Synonyms 0610007L03Rik, Srb7, D6Ertd782e, Surb7
MMRRC Submission 040110-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2106 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 146544077-146552098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 146550710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 74 (D74Y)
Ref Sequence ENSEMBL: ENSMUSP00000145512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032429] [ENSMUST00000111650] [ENSMUST00000204040]
AlphaFold Q9CQ39
Predicted Effect probably damaging
Transcript: ENSMUST00000032429
AA Change: D74Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032429
Gene: ENSMUSG00000030291
AA Change: D74Y

DomainStartEndE-ValueType
Pfam:Med21 1 127 1.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075077
Predicted Effect possibly damaging
Transcript: ENSMUST00000111650
AA Change: D74Y

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107277
Gene: ENSMUSG00000030291
AA Change: D74Y

DomainStartEndE-ValueType
Pfam:Med21 1 90 8.7e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134387
Predicted Effect probably damaging
Transcript: ENSMUST00000204040
AA Change: D74Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145512
Gene: ENSMUSG00000030291
AA Change: D74Y

DomainStartEndE-ValueType
Pfam:Med21 1 127 1.1e-29 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die at the blastocyst stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,992,837 (GRCm39) F650S probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
Ankrd61 A T 5: 143,828,564 (GRCm39) L95Q probably damaging Het
Atp11a A G 8: 12,885,228 (GRCm39) T22A probably benign Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Ccdc40 G T 11: 119,155,123 (GRCm39) R1121L probably damaging Het
Cdhr4 A C 9: 107,874,693 (GRCm39) S588R possibly damaging Het
Cfap69 T C 5: 5,645,979 (GRCm39) N517D probably benign Het
Chrm2 T C 6: 36,500,382 (GRCm39) Y80H probably damaging Het
Cimip2a A G 2: 25,110,663 (GRCm39) Y157C probably damaging Het
Csgalnact2 G T 6: 118,086,090 (GRCm39) Y534* probably null Het
Defb35 A G 8: 22,430,809 (GRCm39) E61G unknown Het
Dhx15 A T 5: 52,327,428 (GRCm39) D95E probably benign Het
Dhx57 A G 17: 80,582,792 (GRCm39) V271A probably damaging Het
Dlg1 T C 16: 31,631,574 (GRCm39) S444P probably damaging Het
Edem1 T A 6: 108,825,686 (GRCm39) N406K probably damaging Het
Eif4g3 A T 4: 137,810,230 (GRCm39) probably benign Het
Epb41 A G 4: 131,717,152 (GRCm39) I56T probably damaging Het
Epg5 T A 18: 78,034,578 (GRCm39) Y1442* probably null Het
Fat2 T C 11: 55,147,390 (GRCm39) T3951A probably benign Het
Fryl A G 5: 73,255,674 (GRCm39) S786P probably damaging Het
Fyb2 A G 4: 104,802,769 (GRCm39) T224A probably benign Het
Ginm1 A T 10: 7,651,090 (GRCm39) F105L probably damaging Het
Heatr1 T C 13: 12,426,939 (GRCm39) V688A probably benign Het
Hnmt T G 2: 23,909,130 (GRCm39) Q94H probably benign Het
Ice1 A G 13: 70,753,741 (GRCm39) Y782H probably benign Het
Immt T C 6: 71,848,499 (GRCm39) V418A possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krt84 T C 15: 101,439,301 (GRCm39) N248D probably damaging Het
Lig1 C A 7: 13,039,863 (GRCm39) R692S probably damaging Het
Lvrn G T 18: 47,011,356 (GRCm39) A438S probably damaging Het
Mast4 C T 13: 102,887,054 (GRCm39) V1204I probably damaging Het
Nat8 T C 6: 85,807,506 (GRCm39) D209G probably benign Het
Nipal1 C A 5: 72,820,902 (GRCm39) F132L probably damaging Het
Npr2 A T 4: 43,644,329 (GRCm39) I613F probably damaging Het
Nrcam A G 12: 44,617,073 (GRCm39) T706A probably benign Het
Or5w1b A G 2: 87,475,895 (GRCm39) S191P probably damaging Het
Or8w1 T C 2: 87,465,503 (GRCm39) E196G probably benign Het
Pam A G 1: 97,759,215 (GRCm39) V823A probably damaging Het
Pdik1l A T 4: 134,011,565 (GRCm39) Y93N probably damaging Het
Perm1 T C 4: 156,303,336 (GRCm39) W627R probably damaging Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Prmt5 T C 14: 54,745,374 (GRCm39) I598V probably benign Het
Rab11fip5 T C 6: 85,351,369 (GRCm39) I48V probably damaging Het
Rad51d T A 11: 82,770,134 (GRCm39) K261N probably damaging Het
Rapgef6 T G 11: 54,559,512 (GRCm39) I1050S probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr3 T C 2: 112,468,474 (GRCm39) E4688G probably damaging Het
Siva1 G T 12: 112,613,440 (GRCm39) R96L probably damaging Het
Slc13a4 T C 6: 35,264,799 (GRCm39) N140S probably damaging Het
Slc26a5 T A 5: 22,028,542 (GRCm39) D342V probably damaging Het
Slfn9 A G 11: 82,878,506 (GRCm39) S208P possibly damaging Het
Sspo C A 6: 48,443,250 (GRCm39) T1899N possibly damaging Het
Sytl1 T C 4: 132,984,774 (GRCm39) D200G probably benign Het
Tas2r118 T C 6: 23,969,569 (GRCm39) N164S probably benign Het
Tbc1d17 A G 7: 44,497,692 (GRCm39) probably null Het
Tex14 T C 11: 87,377,076 (GRCm39) M140T possibly damaging Het
Tm6sf2 T C 8: 70,532,396 (GRCm39) F352S probably benign Het
Tmem88 A G 11: 69,288,685 (GRCm39) L78P probably benign Het
Trafd1 A G 5: 121,511,274 (GRCm39) S515P probably benign Het
Trpm6 A T 19: 18,790,714 (GRCm39) E583V possibly damaging Het
Ttc23l A G 15: 10,547,342 (GRCm39) C91R probably damaging Het
Ubap1l T C 9: 65,281,089 (GRCm39) S256P probably benign Het
Vmn1r26 T G 6: 57,985,710 (GRCm39) S160R possibly damaging Het
Vmn2r97 A G 17: 19,168,100 (GRCm39) S785G probably damaging Het
Wdr27 T G 17: 15,141,116 (GRCm39) R278S probably benign Het
Wdr7 T C 18: 63,911,109 (GRCm39) S834P probably damaging Het
Zdhhc12 C T 2: 29,981,814 (GRCm39) C116Y probably damaging Het
Zfp946 T C 17: 22,672,466 (GRCm39) F22L probably benign Het
Zfp948 G T 17: 21,807,953 (GRCm39) E382* probably null Het
Zfp956 T A 6: 47,941,359 (GRCm39) *573K probably null Het
Zim1 T G 7: 6,681,073 (GRCm39) T197P probably benign Het
Other mutations in Med21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02647:Med21 APN 6 146,550,731 (GRCm39) missense probably benign 0.44
IGL03369:Med21 APN 6 146,544,143 (GRCm39) missense probably benign 0.21
R0049:Med21 UTSW 6 146,551,732 (GRCm39) missense probably damaging 0.99
R0049:Med21 UTSW 6 146,551,732 (GRCm39) missense probably damaging 0.99
R0967:Med21 UTSW 6 146,551,697 (GRCm39) missense probably benign 0.02
R4403:Med21 UTSW 6 146,550,680 (GRCm39) nonsense probably null
R4675:Med21 UTSW 6 146,551,691 (GRCm39) missense probably damaging 0.97
R4747:Med21 UTSW 6 146,550,700 (GRCm39) missense possibly damaging 0.58
R4749:Med21 UTSW 6 146,551,599 (GRCm39) splice site probably null
R4855:Med21 UTSW 6 146,549,690 (GRCm39) missense probably damaging 1.00
R5117:Med21 UTSW 6 146,548,781 (GRCm39) intron probably benign
R5344:Med21 UTSW 6 146,550,683 (GRCm39) missense probably benign 0.39
R7338:Med21 UTSW 6 146,544,082 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGAAAACATCTCATCTATGGATTCC -3'
(R):5'- CAGAGACAGAGTATTGACCTAGTATG -3'

Sequencing Primer
(F):5'- TACAGATGGTTGTGAGCCACC -3'
(R):5'- GTATGTGAGATCTTAGATTTGACCAC -3'
Posted On 2014-09-18