Incidental Mutation 'IGL02728:Med4'
ID 305342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med4
Ensembl Gene ENSMUSG00000022109
Gene Name mediator complex subunit 4
Synonyms DRIP36, MED4, HSPC126, 2410046H15Rik, TRAP36, Vdrip, p36 TRAP/SMCC/PC2 subunit
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02728
Quality Score
Status
Chromosome 14
Chromosomal Location 73747489-73755985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73755415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 241 (L241Q)
Ref Sequence ENSEMBL: ENSMUSP00000022705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813]
AlphaFold Q9CQA5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022705
AA Change: L241Q

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: L241Q

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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,073,880 (GRCm39) probably benign Het
Als2 A G 1: 59,235,506 (GRCm39) V726A probably benign Het
Apba1 G A 19: 23,922,269 (GRCm39) G779E possibly damaging Het
Atr T A 9: 95,818,528 (GRCm39) V2167E probably damaging Het
Bod1l T C 5: 41,983,846 (GRCm39) K566E probably damaging Het
Btd T C 14: 31,389,319 (GRCm39) F347L probably benign Het
Btg2 T C 1: 134,006,643 (GRCm39) probably benign Het
Cblb T A 16: 52,003,672 (GRCm39) S717T probably benign Het
Cep250 T A 2: 155,825,198 (GRCm39) probably benign Het
Cep350 T C 1: 155,828,968 (GRCm39) N312S probably benign Het
Clasp1 A T 1: 118,530,107 (GRCm39) T1490S probably damaging Het
Col7a1 T A 9: 108,813,172 (GRCm39) C2906S probably benign Het
Csmd1 C T 8: 16,049,779 (GRCm39) probably null Het
Cspg4 T A 9: 56,793,765 (GRCm39) V500E probably damaging Het
Cyp7b1 T A 3: 18,126,739 (GRCm39) D469V probably damaging Het
Dhh A T 15: 98,792,192 (GRCm39) probably null Het
Dhrs3 A G 4: 144,646,642 (GRCm39) R231G probably damaging Het
Disp3 A G 4: 148,356,495 (GRCm39) S122P probably damaging Het
Dnah1 T C 14: 31,005,955 (GRCm39) I2275V probably benign Het
Dock8 A C 19: 25,109,584 (GRCm39) N922T probably benign Het
Eef1d A G 15: 75,774,945 (GRCm39) L154P probably damaging Het
Eif4ebp1 C A 8: 27,763,510 (GRCm39) P101Q possibly damaging Het
Eif4g1 T G 16: 20,505,502 (GRCm39) probably benign Het
Emb A G 13: 117,369,301 (GRCm39) M50V probably benign Het
Eml4 T C 17: 83,780,568 (GRCm39) probably null Het
Fkbp10 G T 11: 100,306,803 (GRCm39) R65L probably damaging Het
Gm5878 T C 6: 85,095,574 (GRCm39) N83S probably benign Het
Gm8165 C T 14: 43,913,694 (GRCm39) A57T unknown Het
Gpr179 A G 11: 97,228,726 (GRCm39) V1143A probably damaging Het
Hat1 T C 2: 71,251,604 (GRCm39) Y218H probably damaging Het
Hfm1 T A 5: 107,026,689 (GRCm39) N885I probably benign Het
Ift70a1 T A 2: 75,811,193 (GRCm39) M297L probably benign Het
Inha T C 1: 75,486,091 (GRCm39) S129P probably damaging Het
Ints9 T C 14: 65,230,457 (GRCm39) I128T probably damaging Het
Klra9 T C 6: 130,168,149 (GRCm39) probably null Het
Lrba A G 3: 86,683,356 (GRCm39) E2726G probably damaging Het
Lrp1b T C 2: 40,691,410 (GRCm39) N3356D probably benign Het
Map3k5 A G 10: 19,994,038 (GRCm39) D1008G possibly damaging Het
Mtch1 A G 17: 29,557,716 (GRCm39) V254A possibly damaging Het
Napg C T 18: 63,127,375 (GRCm39) probably benign Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or5k1 C T 16: 58,617,843 (GRCm39) R122H probably benign Het
Or7g33 A G 9: 19,449,142 (GRCm39) F28S possibly damaging Het
Or8d2 T C 9: 38,760,222 (GRCm39) S271P probably damaging Het
Or9r3 T A 10: 129,948,487 (GRCm39) R57S probably damaging Het
Pias1 T A 9: 62,830,926 (GRCm39) S161C probably damaging Het
Pias1 G T 9: 62,830,927 (GRCm39) N160K possibly damaging Het
Pigp G A 16: 94,168,466 (GRCm39) P37S probably damaging Het
Pik3c2b T A 1: 133,020,065 (GRCm39) V1070E probably benign Het
Pramel51 G T 12: 88,142,792 (GRCm39) H275Q probably benign Het
Prepl T C 17: 85,378,010 (GRCm39) T457A probably damaging Het
Psg23 G A 7: 18,340,853 (GRCm39) A467V probably benign Het
Rad54l T C 4: 115,980,146 (GRCm39) R13G probably benign Het
Rassf5 T C 1: 131,108,336 (GRCm39) D248G probably damaging Het
Rspo1 A G 4: 124,898,955 (GRCm39) N92S probably damaging Het
Scube1 G A 15: 83,543,217 (GRCm39) probably benign Het
Sec31b C A 19: 44,511,554 (GRCm39) V616F probably damaging Het
Sema3a T C 5: 13,615,881 (GRCm39) V435A probably damaging Het
Slc7a10 T A 7: 34,897,123 (GRCm39) I208N probably damaging Het
Stab2 A T 10: 86,692,420 (GRCm39) M2151K possibly damaging Het
Tacc1 T C 8: 25,665,235 (GRCm39) D50G probably damaging Het
Tas2r121 G T 6: 132,677,480 (GRCm39) T164N probably damaging Het
Tatdn2 T C 6: 113,681,676 (GRCm39) W570R probably damaging Het
Telo2 A T 17: 25,323,628 (GRCm39) F600I probably damaging Het
Trim36 T A 18: 46,305,669 (GRCm39) H426L probably benign Het
Trpm6 A T 19: 18,787,016 (GRCm39) N531Y possibly damaging Het
Ttc39a T C 4: 109,299,920 (GRCm39) C470R probably damaging Het
Ttn C T 2: 76,615,283 (GRCm39) E8485K probably damaging Het
Ubr4 A T 4: 139,196,122 (GRCm39) I1253F probably damaging Het
Unc79 A T 12: 103,088,688 (GRCm39) H1724L possibly damaging Het
Vmn1r40 T A 6: 89,691,998 (GRCm39) C89S probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Med4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Med4 APN 14 73,754,707 (GRCm39) missense probably damaging 1.00
IGL02964:Med4 APN 14 73,755,361 (GRCm39) missense probably damaging 0.98
R0718:Med4 UTSW 14 73,754,097 (GRCm39) missense probably damaging 1.00
R2131:Med4 UTSW 14 73,755,436 (GRCm39) missense possibly damaging 0.82
R2156:Med4 UTSW 14 73,755,472 (GRCm39) unclassified probably benign
R2320:Med4 UTSW 14 73,755,373 (GRCm39) missense possibly damaging 0.86
R4454:Med4 UTSW 14 73,755,502 (GRCm39) unclassified probably benign
R5361:Med4 UTSW 14 73,747,553 (GRCm39) nonsense probably null
R6419:Med4 UTSW 14 73,751,363 (GRCm39) missense probably damaging 1.00
R8461:Med4 UTSW 14 73,755,468 (GRCm39) missense unknown
R8724:Med4 UTSW 14 73,751,249 (GRCm39) nonsense probably null
R9172:Med4 UTSW 14 73,751,365 (GRCm39) missense probably benign 0.00
R9322:Med4 UTSW 14 73,747,601 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16