Incidental Mutation 'R9406:Med7'
ID 711544
Institutional Source Beutler Lab
Gene Symbol Med7
Ensembl Gene ENSMUSG00000020397
Gene Name mediator complex subunit 7
Synonyms Crsp9, Crsp33, 1110063B05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R9406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 46327752-46333548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46331865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 153 (F153L)
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: F153L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020665
Gene: ENSMUSG00000020397
AA Change: F153L

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109231
AA Change: F153L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104854
Gene: ENSMUSG00000020397
AA Change: F153L

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.6e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109232
AA Change: F153L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104855
Gene: ENSMUSG00000020397
AA Change: F153L

DomainStartEndE-ValueType
Pfam:Med7 6 165 3.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128940
AA Change: F153L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116997
Gene: ENSMUSG00000020397
AA Change: F153L

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: F153L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131852
Gene: ENSMUSG00000020397
AA Change: F153L

DomainStartEndE-ValueType
Pfam:Med7 7 164 1.9e-46 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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. 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,487 (GRCm39) Y275C possibly damaging Het
4932414N04Rik A G 2: 68,498,019 (GRCm39) K150R unknown Het
Aatf ACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC 11: 84,361,866 (GRCm39) probably null Het
Ank3 C A 10: 69,645,011 (GRCm39) T92K unknown Het
Armh4 C T 14: 50,010,945 (GRCm39) G254E possibly damaging Het
Cdca2 T C 14: 67,937,772 (GRCm39) S294G unknown Het
Cerk A G 15: 86,028,787 (GRCm39) I423T possibly damaging Het
Cfap74 A T 4: 155,510,626 (GRCm39) K404* probably null Het
Cftr T C 6: 18,299,866 (GRCm39) V1213A probably benign Het
Chst11 A G 10: 83,026,881 (GRCm39) T103A possibly damaging Het
Col22a1 A G 15: 71,845,541 (GRCm39) I407T probably damaging Het
Cpn2 A G 16: 30,078,360 (GRCm39) V447A probably benign Het
Crybg3 T C 16: 59,378,839 (GRCm39) E805G probably benign Het
Cstb A G 10: 78,263,173 (GRCm39) H66R probably benign Het
Cyp2g1 T C 7: 26,518,910 (GRCm39) probably null Het
Fkbp1b G T 12: 4,883,732 (GRCm39) H88N probably benign Het
Gm4884 A T 7: 40,692,565 (GRCm39) D178V probably damaging Het
Grik5 T C 7: 24,757,969 (GRCm39) T371A probably benign Het
Hydin G A 8: 111,314,412 (GRCm39) G4299S probably null Het
Ibtk A T 9: 85,603,393 (GRCm39) Y537* probably null Het
Ighv8-9 A G 12: 115,432,257 (GRCm39) L18P probably damaging Het
Lbp G T 2: 158,159,477 (GRCm39) K203N probably benign Het
Lilra6 C T 7: 3,917,853 (GRCm39) R97Q probably benign Het
Man1c1 A G 4: 134,303,318 (GRCm39) I392T probably damaging Het
Mcf2l A T 8: 13,059,676 (GRCm39) H727L probably damaging Het
Neurl1b G C 17: 26,657,820 (GRCm39) V253L probably benign Het
Noc2l T C 4: 156,320,511 (GRCm39) S4P probably benign Het
Obscn A C 11: 58,947,805 (GRCm39) F4408C Het
Or1j17 A G 2: 36,578,296 (GRCm39) Y94C possibly damaging Het
Or4f62 A G 2: 111,986,643 (GRCm39) I116V probably benign Het
Orc2 T C 1: 58,506,842 (GRCm39) Q498R probably damaging Het
Oxsm A C 14: 16,242,531 (GRCm38) D79E probably benign Het
Pask G A 1: 93,251,987 (GRCm39) T464I probably benign Het
Pcdha8 A G 18: 37,126,922 (GRCm39) N468S probably damaging Het
Pcm1 T A 8: 41,728,722 (GRCm39) V565E probably damaging Het
Pcsk5 T C 19: 17,771,097 (GRCm39) I67V probably benign Het
Pde4d A G 13: 109,877,064 (GRCm39) D139G probably damaging Het
Pdzd8 C T 19: 59,333,245 (GRCm39) E259K Het
Phactr3 T C 2: 177,925,856 (GRCm39) L377P probably damaging Het
Ppargc1b G A 18: 61,444,051 (GRCm39) P387S possibly damaging Het
Prmt7 T G 8: 106,970,435 (GRCm39) V426G probably damaging Het
Rab39 G C 9: 53,597,915 (GRCm39) P117A probably damaging Het
Rab40b G A 11: 121,254,352 (GRCm39) R62* probably null Het
Rpf1 T G 3: 146,213,937 (GRCm39) H220P probably damaging Het
Rps6kl1 A G 12: 85,186,280 (GRCm39) I276T probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sestd1 G A 2: 77,075,421 (GRCm39) probably benign Het
Slc38a6 T A 12: 73,376,767 (GRCm39) Y140* probably null Het
Smpd1 C A 7: 105,203,750 (GRCm39) H4Q possibly damaging Het
Sox8 A T 17: 25,786,634 (GRCm39) S356R probably damaging Het
Tapbpl A G 6: 125,205,319 (GRCm39) L209P probably damaging Het
Txndc11 A G 16: 10,893,498 (GRCm39) L744P probably benign Het
Ush2a C T 1: 187,995,646 (GRCm39) P139L probably benign Het
Vmn1r54 A T 6: 90,246,092 (GRCm39) N2I probably damaging Het
Vmn2r112 C T 17: 22,824,223 (GRCm39) Q493* probably null Het
Vps16 T C 2: 130,283,425 (GRCm39) probably null Het
Zfp40 A T 17: 23,396,129 (GRCm39) S153T possibly damaging Het
Zfp523 G A 17: 28,416,840 (GRCm39) A109T probably benign Het
Zfp78 A T 7: 6,382,182 (GRCm39) N411Y probably benign 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
R8165:Med7 UTSW 11 46,332,073 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TGAACGGCTTCATCCTATGC -3'
(R):5'- TGGTCCCTTCTGTGACCTGAAC -3'

Sequencing Primer
(F):5'- GAACGGCTTCATCCTATGCAATTTG -3'
(R):5'- GTGACCTGAACTTTCTCTTTGTTG -3'
Posted On 2022-05-16