Incidental Mutation 'R8165:Med7'
ID 633734
Institutional Source Beutler Lab
Gene Symbol Med7
Ensembl Gene ENSMUSG00000020397
Gene Name mediator complex subunit 7
Synonyms Crsp9, Crsp33, 1110063B05Rik
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 46327752-46333548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46332073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 223 (C223S)
Ref Sequence ENSEMBL: ENSMUSP00000020665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020665] [ENSMUST00000109231] [ENSMUST00000109232] [ENSMUST00000128940] [ENSMUST00000133635] [ENSMUST00000140027] [ENSMUST00000152119] [ENSMUST00000170928]
AlphaFold Q9CZB6
Predicted Effect probably benign
Transcript: ENSMUST00000020665
AA Change: C223S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020665
Gene: ENSMUSG00000020397
AA Change: C223S

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109231
SMART Domains Protein: ENSMUSP00000104854
Gene: ENSMUSG00000020397

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.6e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109232
AA Change: C223S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104855
Gene: ENSMUSG00000020397
AA Change: C223S

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128940
SMART Domains Protein: ENSMUSP00000116997
Gene: ENSMUSG00000020397

DomainStartEndE-ValueType
Pfam:Med7 6 157 4.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133635
SMART Domains Protein: ENSMUSP00000120617
Gene: ENSMUSG00000020397

DomainStartEndE-ValueType
Pfam:Med7 6 133 2.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140027
SMART Domains Protein: ENSMUSP00000120077
Gene: ENSMUSG00000020397

DomainStartEndE-ValueType
Pfam:Med7 6 61 8.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152119
SMART Domains Protein: ENSMUSP00000122182
Gene: ENSMUSG00000020397

DomainStartEndE-ValueType
Pfam:Med7 6 93 6.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170928
AA Change: C223S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131852
Gene: ENSMUSG00000020397
AA Change: C223S

DomainStartEndE-ValueType
Pfam:Med7 7 164 1.9e-46 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Med7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1257:Med7 UTSW 11 46,331,460 (GRCm39) missense probably damaging 0.96
R1259:Med7 UTSW 11 46,331,460 (GRCm39) missense probably damaging 0.96
R1260:Med7 UTSW 11 46,331,460 (GRCm39) missense probably damaging 0.96
R7216:Med7 UTSW 11 46,331,681 (GRCm39) missense probably damaging 1.00
R7255:Med7 UTSW 11 46,331,822 (GRCm39) missense probably damaging 0.98
R7683:Med7 UTSW 11 46,331,687 (GRCm39) missense possibly damaging 0.46
R9406:Med7 UTSW 11 46,331,865 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GGAACGAGTCATTGAAATGATTCAG -3'
(R):5'- GCAATTACTCAAATATACTTGCTGGCC -3'

Sequencing Primer
(F):5'- ATGATTCAGAATTGCTTGGCTTC -3'
(R):5'- AATATACTTGCTGGCCTATGTTTAG -3'
Posted On 2020-07-13