Incidental Mutation 'IGL00556:Med4'
ID4157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med4
Ensembl Gene ENSMUSG00000022109
Gene Namemediator complex subunit 4
Synonymsp36 TRAP/SMCC/PC2 subunit, DRIP36, 2410046H15Rik, Vdrip, TRAP36, HSPC126, MED4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL00556
Quality Score
Status
Chromosome14
Chromosomal Location73510025-73518849 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73517267 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 190 (M190T)
Ref Sequence ENSEMBL: ENSMUSP00000022705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813]
Predicted Effect probably damaging
Transcript: ENSMUST00000022705
AA Change: M190T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: M190T

DomainStartEndE-ValueType
Pfam:Med4 63 206 7.8e-34 PFAM
low complexity region 259 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043813
SMART Domains Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405

DomainStartEndE-ValueType
Pfam:NUDIX 11 142 1.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228141
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,784,457 D225G probably benign Het
Abca12 T C 1: 71,353,757 I108V probably benign Het
Atad2 A G 15: 58,100,080 I723T probably damaging Het
Cct4 T A 11: 22,997,656 V233E possibly damaging Het
Ces1a A G 8: 93,045,059 Y37H probably benign Het
Cgnl1 C T 9: 71,656,056 R863Q probably benign Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fhdc1 A T 3: 84,457,242 D232E possibly damaging Het
Gm6370 A G 5: 146,493,913 T303A probably benign Het
Gsdmc2 A G 15: 63,828,271 probably benign Het
Kif13b T A 14: 64,744,888 N516K probably damaging Het
Med1 A G 11: 98,155,684 probably benign Het
Myo15b T C 11: 115,891,916 V1534A possibly damaging Het
Neb T C 2: 52,191,949 R1722G probably benign Het
Obp2b A T 2: 25,738,581 I116F probably damaging Het
Rims2 A G 15: 39,456,674 probably null Het
Siglecg A T 7: 43,411,795 I431F probably benign Het
Thap12 T A 7: 98,716,137 V504D possibly damaging Het
Tlr7 A C X: 167,308,475 M5R possibly damaging Het
Tubgcp6 A G 15: 89,100,962 V1641A probably damaging Het
Ugt2b1 T A 5: 86,926,196 L101F probably benign Het
Xdh A T 17: 73,884,435 *1336R probably null Het
Other mutations in Med4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Med4 APN 14 73517975 missense possibly damaging 0.87
IGL02964:Med4 APN 14 73517921 missense probably damaging 0.98
R0718:Med4 UTSW 14 73516657 missense probably damaging 1.00
R2131:Med4 UTSW 14 73517996 missense possibly damaging 0.82
R2156:Med4 UTSW 14 73518032 unclassified probably benign
R2320:Med4 UTSW 14 73517933 missense possibly damaging 0.86
R4454:Med4 UTSW 14 73518062 unclassified probably benign
R5361:Med4 UTSW 14 73510113 nonsense probably null
R6419:Med4 UTSW 14 73513923 missense probably damaging 1.00
Posted On2012-04-20