Incidental Mutation 'IGL00670:Med14'
ID 11946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med14
Ensembl Gene ENSMUSG00000064127
Gene Name mediator complex subunit 14
Synonyms Crsp2, ENSMUSG00000073278, 9930001L01Rik, LOC270579, ORF1, Trap170
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # IGL00670
Quality Score
Status
Chromosome X
Chromosomal Location 12541608-12628312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12620428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 95 (A95V)
Ref Sequence ENSEMBL: ENSMUSP00000094239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076016] [ENSMUST00000096495]
AlphaFold A2ABV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000076016
AA Change: A95V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075395
Gene: ENSMUSG00000064127
AA Change: A95V

DomainStartEndE-ValueType
Pfam:Med14 53 246 4.5e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000096495
AA Change: A95V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
AA Change: A95V

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
Pfam:Med14 55 244 6.7e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
low complexity region 1005 1018 N/A INTRINSIC
low complexity region 1065 1086 N/A INTRINSIC
low complexity region 1346 1361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124053
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. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,633,007 (GRCm39) L245Q probably damaging Het
Abcd3 A T 3: 121,569,333 (GRCm39) V333D probably damaging Het
Aff2 T A X: 68,588,199 (GRCm39) M122K possibly damaging Het
Car10 C T 11: 93,195,483 (GRCm39) probably benign Het
Cyp2d26 T A 15: 82,675,942 (GRCm39) M257L probably benign Het
Cyp2j5 T G 4: 96,522,512 (GRCm39) D354A probably benign Het
Fam228b T C 12: 4,814,081 (GRCm39) K59E probably damaging Het
Fndc3c1 T C X: 105,489,383 (GRCm39) D346G probably benign Het
Med23 T C 10: 24,764,482 (GRCm39) L155P probably damaging Het
Mrps31 A G 8: 22,919,206 (GRCm39) D312G probably damaging Het
Ppp1r3a A T 6: 14,719,059 (GRCm39) N618K probably benign Het
Prb1a A T 6: 132,184,109 (GRCm39) probably benign Het
Slc5a4a A T 10: 75,999,567 (GRCm39) I210F probably damaging Het
Tasor2 A T 13: 3,635,241 (GRCm39) I522N probably benign Het
Ttn A T 2: 76,657,335 (GRCm39) probably benign Het
Other mutations in Med14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Med14 APN X 12,613,003 (GRCm39) splice site probably benign
IGL00895:Med14 APN X 12,547,039 (GRCm39) missense probably damaging 0.99
IGL02434:Med14 APN X 12,612,063 (GRCm39) missense possibly damaging 0.89
IGL03064:Med14 APN X 12,613,742 (GRCm39) missense probably benign 0.04
R0295:Med14 UTSW X 12,551,987 (GRCm39) missense probably damaging 1.00
R2844:Med14 UTSW X 12,550,235 (GRCm39) missense probably benign 0.01
R2860:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R2861:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R2862:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R3157:Med14 UTSW X 12,550,330 (GRCm39) splice site probably benign
R3158:Med14 UTSW X 12,550,330 (GRCm39) splice site probably benign
R3807:Med14 UTSW X 12,553,416 (GRCm39) missense probably damaging 1.00
X0022:Med14 UTSW X 12,553,380 (GRCm39) missense probably damaging 1.00
Z1088:Med14 UTSW X 12,543,845 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06