Incidental Mutation 'IGL01886:Med27'
ID 179137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med27
Ensembl Gene ENSMUSG00000026799
Gene Name mediator complex subunit 27
Synonyms Crsp8, 1500015J03Rik, 2310042P07Rik, D2Ertd434e
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # IGL01886
Quality Score
Status
Chromosome 2
Chromosomal Location 29236831-29414805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29303494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 9 (P9Q)
Ref Sequence ENSEMBL: ENSMUSP00000124233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028139] [ENSMUST00000113830] [ENSMUST00000159034] [ENSMUST00000159280] [ENSMUST00000162597] [ENSMUST00000162623]
AlphaFold Q9DB40
Predicted Effect probably damaging
Transcript: ENSMUST00000028139
AA Change: P148Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028139
Gene: ENSMUSG00000026799
AA Change: P148Q

DomainStartEndE-ValueType
Pfam:Med27 228 310 7.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113830
AA Change: P148Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123522
Predicted Effect probably damaging
Transcript: ENSMUST00000159034
AA Change: P9Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000159280
AA Change: P9Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125390
Gene: ENSMUSG00000026799
AA Change: P9Q

DomainStartEndE-ValueType
Pfam:Med27 85 171 1.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162597
AA Change: P9Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000162623
AA Change: P9Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000162603
AA Change: P92Q
Coding Region Coverage
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,625,592 (GRCm39) V136M probably benign Het
Ankrd34c A T 9: 89,612,318 (GRCm39) L8M possibly damaging Het
Anks6 C A 4: 47,044,850 (GRCm39) W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 (GRCm39) N768K probably damaging Het
Clec7a A T 6: 129,440,140 (GRCm39) probably benign Het
Cyp3a13 G A 5: 137,897,082 (GRCm39) P411S probably damaging Het
Elavl2 A G 4: 91,152,330 (GRCm39) V129A probably damaging Het
Ercc6 T A 14: 32,291,537 (GRCm39) S994T possibly damaging Het
Esco1 T A 18: 10,595,262 (GRCm39) K8I probably damaging Het
Esr1 T A 10: 4,806,861 (GRCm39) I259K probably damaging Het
Filip1l A G 16: 57,391,613 (GRCm39) I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Grin3a T A 4: 49,702,814 (GRCm39) I891F probably damaging Het
Kat7 T C 11: 95,196,959 (GRCm39) T27A probably benign Het
Kdm1a A G 4: 136,288,327 (GRCm39) probably null Het
Kifc5b T C 17: 27,151,091 (GRCm39) V663A probably damaging Het
Lama1 T G 17: 68,114,792 (GRCm39) S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 (GRCm39) V279I probably benign Het
Mast3 A T 8: 71,234,783 (GRCm39) L774Q possibly damaging Het
Myo5a C A 9: 75,076,372 (GRCm39) probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb T C 2: 52,073,857 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,014,327 (GRCm39) T308A probably benign Het
Or1l4b A G 2: 37,036,521 (GRCm39) Y99C probably damaging Het
Or8d2b G T 9: 38,788,844 (GRCm39) C124F probably damaging Het
Orc1 T A 4: 108,461,154 (GRCm39) probably null Het
Pnkp G A 7: 44,511,631 (GRCm39) A76T probably damaging Het
Polr3h T C 15: 81,801,591 (GRCm39) E95G probably damaging Het
Prpf40b T A 15: 99,202,328 (GRCm39) M62K unknown Het
Prpf8 C A 11: 75,386,570 (GRCm39) Q1075K probably benign Het
Ptprg A G 14: 12,179,280 (GRCm38) K766E probably benign Het
Rabgap1l A T 1: 160,169,612 (GRCm39) N778K probably damaging Het
Riok3 T A 18: 12,272,442 (GRCm39) N204K probably damaging Het
Shank3 A G 15: 89,415,866 (GRCm39) K650E probably damaging Het
Sim1 T A 10: 50,860,411 (GRCm39) S758T probably damaging Het
Slu7 T G 11: 43,330,087 (GRCm39) N171K probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Sult6b2 A G 6: 142,735,852 (GRCm39) probably null Het
Taf6l C T 19: 8,755,450 (GRCm39) probably null Het
Ubtfl1 G A 9: 18,321,017 (GRCm39) V182M possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Med27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0427:Med27 UTSW 2 29,390,283 (GRCm39) missense probably damaging 1.00
R1769:Med27 UTSW 2 29,390,307 (GRCm39) missense probably damaging 0.99
R2126:Med27 UTSW 2 29,414,442 (GRCm39) nonsense probably null
R3196:Med27 UTSW 2 29,236,882 (GRCm39) missense possibly damaging 0.86
R4093:Med27 UTSW 2 29,267,920 (GRCm39) unclassified probably benign
R4498:Med27 UTSW 2 29,361,354 (GRCm39) missense probably damaging 0.99
R4599:Med27 UTSW 2 29,414,470 (GRCm39) missense probably damaging 1.00
R4722:Med27 UTSW 2 29,414,447 (GRCm39) missense probably damaging 0.98
R4771:Med27 UTSW 2 29,303,515 (GRCm39) missense probably damaging 1.00
R4828:Med27 UTSW 2 29,267,950 (GRCm39) unclassified probably benign
R5870:Med27 UTSW 2 29,279,823 (GRCm39) critical splice acceptor site probably null
R6061:Med27 UTSW 2 29,399,453 (GRCm39) missense probably damaging 0.99
R6159:Med27 UTSW 2 29,414,376 (GRCm39) splice site probably null
R7028:Med27 UTSW 2 29,399,446 (GRCm39) nonsense probably null
R7319:Med27 UTSW 2 29,303,490 (GRCm39) missense possibly damaging 0.53
R7387:Med27 UTSW 2 29,303,419 (GRCm39) missense possibly damaging 0.96
R7671:Med27 UTSW 2 29,267,950 (GRCm39) missense
R8255:Med27 UTSW 2 29,414,376 (GRCm39) splice site probably null
R8969:Med27 UTSW 2 29,236,875 (GRCm39) missense possibly damaging 0.86
R9026:Med27 UTSW 2 29,399,446 (GRCm39) nonsense probably null
R9194:Med27 UTSW 2 29,361,312 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07