Incidental Mutation 'IGL01644:Med29'
ID102594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med29
Ensembl Gene ENSMUSG00000003444
Gene Namemediator complex subunit 29
SynonymsIxl, 2810405O22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.905) question?
Stock #IGL01644
Quality Score
Status
Chromosome7
Chromosomal Location28386146-28392708 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28390847 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 108 (F108L)
Ref Sequence ENSEMBL: ENSMUSP00000003536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003529] [ENSMUST00000003536]
Predicted Effect probably benign
Transcript: ENSMUST00000003529
SMART Domains Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437

DomainStartEndE-ValueType
Pfam:Paf1 28 441 2.3e-154 PFAM
low complexity region 456 470 N/A INTRINSIC
low complexity region 476 511 N/A INTRINSIC
low complexity region 514 535 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000003536
AA Change: F108L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003536
Gene: ENSMUSG00000003444
AA Change: F108L

DomainStartEndE-ValueType
Pfam:Med29 51 186 7.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208885
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,297,217 *82R probably null Het
Crb1 T A 1: 139,237,630 R919* probably null Het
Csf1 T C 3: 107,753,842 T120A possibly damaging Het
Defa29 A T 8: 21,326,121 C77S possibly damaging Het
Defb7 A T 8: 19,497,701 probably benign Het
Ece2 T C 16: 20,617,866 V146A possibly damaging Het
Efcab6 T A 15: 84,033,072 S96C probably damaging Het
Gm7729 T C 18: 27,598,819 noncoding transcript Het
Hapln2 G T 3: 88,022,637 R311S probably damaging Het
Impg2 C T 16: 56,259,870 P679L probably benign Het
Kansl1l A G 1: 66,801,316 I275T probably benign Het
Nrxn1 C T 17: 90,620,873 C789Y possibly damaging Het
Olfr1230 T C 2: 89,296,632 I213V probably benign Het
Olfr1490 A T 19: 13,655,404 probably benign Het
Palld T C 8: 61,877,478 K122E probably benign Het
Ppl A T 16: 5,091,855 L864H probably damaging Het
Ptov1 C A 7: 44,867,502 E37* probably null Het
Sspo T C 6: 48,452,502 V482A probably benign Het
St7l C T 3: 104,919,456 R377* probably null Het
Ttn G T 2: 76,755,383 P13643T probably damaging Het
Vcan T A 13: 89,688,675 T2917S probably benign Het
Other mutations in Med29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Med29 APN 7 28390841 missense possibly damaging 0.95
IGL02383:Med29 APN 7 28387023 missense possibly damaging 0.91
R0019:Med29 UTSW 7 28391076 splice site probably benign
R0317:Med29 UTSW 7 28386859 missense possibly damaging 0.48
R0349:Med29 UTSW 7 28392510 small deletion probably benign
R1595:Med29 UTSW 7 28392503 missense probably damaging 1.00
R1723:Med29 UTSW 7 28392705 start gained probably benign
R3237:Med29 UTSW 7 28392621 unclassified probably benign
R4700:Med29 UTSW 7 28386927 missense possibly damaging 0.81
R5665:Med29 UTSW 7 28386814 missense probably benign 0.02
R5870:Med29 UTSW 7 28392497 missense probably damaging 1.00
R6013:Med29 UTSW 7 28386993 missense probably benign 0.00
Posted On2014-01-21