Incidental Mutation 'IGL02964:Med4'
ID365500
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: 0.962) question?
Stock #IGL02964
Quality Score
Status
Chromosome14
Chromosomal Location73510025-73518849 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73517921 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 223 (Q223R)
Ref Sequence ENSEMBL: ENSMUSP00000022705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813]
Predicted Effect probably damaging
Transcript: ENSMUST00000022705
AA Change: Q223R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: Q223R

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Other mutations in Med4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Med4 APN 14 73517267 missense probably damaging 1.00
IGL02728:Med4 APN 14 73517975 missense possibly damaging 0.87
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
R8461:Med4 UTSW 14 73518028 missense unknown
Posted On2015-12-18