Incidental Mutation 'R6419:Med4'
ID 518029
Institutional Source Beutler Lab
Gene Symbol Med4
Ensembl Gene ENSMUSG00000022109
Gene Name mediator complex subunit 4
Synonyms DRIP36, MED4, HSPC126, 2410046H15Rik, TRAP36, Vdrip, p36 TRAP/SMCC/PC2 subunit
MMRRC Submission 044561-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6419 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 73747489-73755985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73751363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 104 (D104V)
Ref Sequence ENSEMBL: ENSMUSP00000022705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813]
AlphaFold Q9CQA5
Predicted Effect probably damaging
Transcript: ENSMUST00000022705
AA Change: D104V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: D104V

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: ENSMUST00000226256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228141
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm39) probably benign Het
Abcc2 T A 19: 43,825,947 (GRCm39) probably null Het
Adamts12 C T 15: 11,215,759 (GRCm39) T260M possibly damaging Het
Adamts20 C T 15: 94,231,556 (GRCm39) V878I possibly damaging Het
Adgrl4 A G 3: 151,144,953 (GRCm39) E34G probably damaging Het
Asah1 A T 8: 41,796,803 (GRCm39) I293N probably damaging Het
Atosa G A 9: 74,916,619 (GRCm39) S413N probably benign Het
B3galt2 A T 1: 143,522,839 (GRCm39) E325V possibly damaging Het
Baz1b T A 5: 135,271,348 (GRCm39) H1310Q probably benign Het
Ccdc125 T A 13: 100,826,834 (GRCm39) N204K probably damaging Het
Cd36 C T 5: 18,002,150 (GRCm39) D284N probably benign Het
Cdh12 T C 15: 21,520,483 (GRCm39) L316S probably damaging Het
Cenpv T C 11: 62,416,008 (GRCm39) K247R probably benign Het
Cldn18 T C 9: 99,574,801 (GRCm39) H257R possibly damaging Het
Cnot8 T A 11: 58,004,891 (GRCm39) Y197N probably damaging Het
Cog3 A T 14: 75,962,178 (GRCm39) C554* probably null Het
Col4a4 A G 1: 82,444,207 (GRCm39) probably null Het
Cops5 G A 1: 10,103,532 (GRCm39) T158I probably damaging Het
Dhh A G 15: 98,792,282 (GRCm39) F242S probably damaging Het
Dot1l T C 10: 80,627,315 (GRCm39) V1512A possibly damaging Het
Dstn T G 2: 143,781,907 (GRCm39) I116S possibly damaging Het
Egfem1 G A 3: 29,711,398 (GRCm39) D326N probably damaging Het
Enpp3 A T 10: 24,684,089 (GRCm39) Y52N probably damaging Het
Gabra2 A G 5: 71,119,426 (GRCm39) S359P probably benign Het
Gbp7 G A 3: 142,252,214 (GRCm39) G599E probably benign Het
Gcat T G 15: 78,920,264 (GRCm39) I198S probably damaging Het
Gm8439 A G 4: 120,466,755 (GRCm39) K82R unknown Het
Grin2b A G 6: 135,717,965 (GRCm39) F709S probably damaging Het
Grm3 T C 5: 9,620,201 (GRCm39) N348D probably damaging Het
Hdgfl1 G A 13: 26,954,075 (GRCm39) probably benign Het
Hmgxb3 G T 18: 61,285,296 (GRCm39) D564E possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Impg1 A G 9: 80,287,300 (GRCm39) V305A probably benign Het
Ints7 T A 1: 191,334,414 (GRCm39) S313T possibly damaging Het
Knl1 T A 2: 118,899,484 (GRCm39) I395K probably benign Het
Lactb2 A T 1: 13,708,459 (GRCm39) Y196* probably null Het
Lad1 T C 1: 135,759,630 (GRCm39) S509P possibly damaging Het
Ltf T C 9: 110,860,090 (GRCm39) F504L possibly damaging Het
Mrpl58 A T 11: 115,301,073 (GRCm39) N128Y probably damaging Het
Ndufs2 T C 1: 171,068,668 (GRCm39) T54A probably benign Het
Notch2 G T 3: 98,007,705 (GRCm39) probably null Het
Ntng1 A T 3: 109,690,169 (GRCm39) N424K possibly damaging Het
Ntrk2 G A 13: 59,009,113 (GRCm39) W301* probably null Het
Or5b116 T A 19: 13,423,131 (GRCm39) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm39) S113P possibly damaging Het
Pcdhb20 A G 18: 37,638,608 (GRCm39) N378S probably damaging Het
Polr3b T C 10: 84,473,975 (GRCm39) S185P possibly damaging Het
Ptprn G A 1: 75,240,681 (GRCm39) R31C probably benign Het
Rgsl1 C T 1: 153,698,117 (GRCm39) V478M probably damaging Het
Sema6b A T 17: 56,439,784 (GRCm39) L19* probably null Het
Slfn8 A G 11: 82,894,881 (GRCm39) probably null Het
Spen A T 4: 141,203,621 (GRCm39) S1669T unknown Het
Syne2 T C 12: 76,143,740 (GRCm39) F1522L probably damaging Het
Tarbp1 C T 8: 127,185,783 (GRCm39) A470T possibly damaging Het
Tent4a A C 13: 69,658,785 (GRCm39) M350R possibly damaging Het
Tiam1 C A 16: 89,694,912 (GRCm39) E182* probably null Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trip12 C T 1: 84,771,591 (GRCm39) A186T probably damaging Het
Ufc1 C T 1: 171,116,529 (GRCm39) A147T probably damaging Het
Vmn1r199 A G 13: 22,567,777 (GRCm39) K314R possibly damaging Het
Vmn2r13 A T 5: 109,323,085 (GRCm39) I68K possibly damaging Het
Vmn2r77 A T 7: 86,460,767 (GRCm39) I698F probably damaging Het
Vmn2r86 T C 10: 130,282,795 (GRCm39) K607R probably damaging Het
Vwa3b T C 1: 37,196,457 (GRCm39) V28A probably benign Het
Wdr19 A G 5: 65,373,236 (GRCm39) N166S possibly damaging Het
Wfdc17 G A 11: 83,595,634 (GRCm39) G33R probably damaging Het
Zfp330 T G 8: 83,491,545 (GRCm39) K209N probably benign Het
Zfp493 A G 13: 67,934,526 (GRCm39) T160A probably benign Het
Zfp974 A T 7: 27,610,940 (GRCm39) C262S possibly damaging Het
Other mutations in Med4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Med4 APN 14 73,754,707 (GRCm39) missense probably damaging 1.00
IGL02728:Med4 APN 14 73,755,415 (GRCm39) missense possibly damaging 0.87
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
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
Predicted Primers PCR Primer
(F):5'- ATCTCCTGGTGGTAGCCTTG -3'
(R):5'- TCTAGCCAACTAAAAGGGGTG -3'

Sequencing Primer
(F):5'- CCTGGTGGTAGCCTTGATAATCC -3'
(R):5'- AACTCACCAGGATCTGCT -3'
Posted On 2018-05-24