Incidental Mutation 'IGL01023:Med26'
ID53742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med26
Ensembl Gene ENSMUSG00000045248
Gene Namemediator complex subunit 26
Synonyms5730493L18Rik, Crsp7
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.263) question?
Stock #IGL01023
Quality Score
Status
Chromosome8
Chromosomal Location72494561-72548270 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72495874 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 460 (F460L)
Ref Sequence ENSEMBL: ENSMUSP00000058697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058534] [ENSMUST00000152080]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058534
AA Change: F460L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058697
Gene: ENSMUSG00000045248
AA Change: F460L

DomainStartEndE-ValueType
TFS2N 12 86 6.67e-21 SMART
low complexity region 93 108 N/A INTRINSIC
Pfam:Med26_M 177 405 3e-80 PFAM
Pfam:Med26_C 407 586 5.1e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141352
SMART Domains Protein: ENSMUSP00000122215
Gene: ENSMUSG00000019731

DomainStartEndE-ValueType
Pfam:EamA 5 58 1.5e-6 PFAM
Pfam:UAA 6 214 4e-8 PFAM
Pfam:TPT 67 211 1.7e-38 PFAM
Pfam:EamA 76 211 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152080
SMART Domains Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731

DomainStartEndE-ValueType
Pfam:TPT 28 333 8.3e-95 PFAM
Pfam:EamA 188 334 7.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212699
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Gnat3 T C 5: 18,003,828 S177P probably damaging Het
Higd1a C T 9: 121,849,683 G80D possibly damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Olfr1111 T A 2: 87,149,825 T279S possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tmem269 C A 4: 119,209,314 M182I probably benign Het
Tnfaip8l2 A G 3: 95,140,415 S46P probably damaging Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Med26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02897:Med26 APN 8 72496521 missense probably benign 0.00
R2017:Med26 UTSW 8 72496947 missense probably damaging 1.00
R2203:Med26 UTSW 8 72495902 missense probably damaging 0.96
R2408:Med26 UTSW 8 72495632 missense probably benign 0.11
R2913:Med26 UTSW 8 72496112 missense possibly damaging 0.93
R4030:Med26 UTSW 8 72496569 missense probably damaging 0.99
R4904:Med26 UTSW 8 72496847 missense probably damaging 1.00
R5042:Med26 UTSW 8 72497075 missense probably damaging 1.00
R6682:Med26 UTSW 8 72496083 missense probably benign 0.12
R6755:Med26 UTSW 8 72495833 missense probably damaging 1.00
R6978:Med26 UTSW 8 72496583 missense possibly damaging 0.94
Posted On2013-06-28