Incidental Mutation 'IGL02964:Med4'
ID 365500
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: 0.967) question?
Stock # IGL02964
Quality Score
Status
Chromosome 14
Chromosomal Location 73747489-73755985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73755361 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CQA5
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: 94,242,636 (GRCm39) I1364V possibly damaging Het
Adamts19 T A 18: 59,122,037 (GRCm39) I813K probably damaging Het
Adamtsl1 G T 4: 86,342,594 (GRCm39) C1703F probably damaging Het
Atp2b4 T A 1: 133,658,303 (GRCm39) T536S probably damaging Het
Capg T A 6: 72,539,827 (GRCm39) I340N probably damaging Het
Casc3 T A 11: 98,719,749 (GRCm39) M567K probably damaging Het
Chmp1a T C 8: 123,934,806 (GRCm39) E50G probably damaging Het
Cryba1 T C 11: 77,610,207 (GRCm39) probably benign Het
Dnah8 T A 17: 30,965,735 (GRCm39) Y2356N probably damaging Het
Ercc6 T G 14: 32,292,060 (GRCm39) S1141R probably benign Het
Exd2 T A 12: 80,527,302 (GRCm39) V165D probably damaging Het
Fbln1 A T 15: 85,115,663 (GRCm39) E233V probably damaging Het
Ftsj3 T C 11: 106,143,163 (GRCm39) K384E probably damaging Het
Ggt5 A G 10: 75,439,962 (GRCm39) I188V probably benign Het
Gm42742 A T 7: 126,616,018 (GRCm39) S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 (GRCm39) D449E probably damaging Het
Igfbp7 C T 5: 77,499,188 (GRCm39) S239N possibly damaging Het
Klf11 C T 12: 24,705,626 (GRCm39) A360V probably damaging Het
Kmt2e T A 5: 23,672,098 (GRCm39) probably benign Het
Magea8 A T X: 153,769,678 (GRCm39) C144S probably damaging Het
Mmd2 G T 5: 142,555,232 (GRCm39) F153L probably damaging Het
Nav3 C A 10: 109,572,814 (GRCm39) R1615L probably damaging Het
Nisch A G 14: 30,902,769 (GRCm39) probably benign Het
Nr1i3 A T 1: 171,041,964 (GRCm39) Y16F probably benign Het
Or5w1 C A 2: 87,487,058 (GRCm39) C69F probably damaging Het
Or7e169 G A 9: 19,757,550 (GRCm39) R122* probably null Het
Or7g16 A G 9: 18,727,024 (GRCm39) C189R probably damaging Het
Or8g34 A G 9: 39,373,077 (GRCm39) T117A possibly damaging Het
Ppil6 C A 10: 41,383,479 (GRCm39) H252N probably benign Het
Ppp6r2 C T 15: 89,143,378 (GRCm39) P175L probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbm20 C A 19: 53,802,133 (GRCm39) L214I probably benign Het
Rhox2f T C X: 36,753,334 (GRCm39) V24A probably benign Het
Scnm1 T C 3: 95,040,348 (GRCm39) K96E probably benign Het
Sec16a A C 2: 26,309,735 (GRCm39) D2090E probably benign Het
Smg6 T C 11: 74,821,576 (GRCm39) probably null Het
Snx2 T C 18: 53,327,630 (GRCm39) S119P probably benign Het
Stam A G 2: 14,120,779 (GRCm39) probably benign Het
Sult2b1 T A 7: 45,384,698 (GRCm39) E126V probably benign Het
Tor1aip1 T C 1: 155,911,590 (GRCm39) E131G probably damaging Het
Ttn C T 2: 76,619,040 (GRCm39) C14367Y probably damaging Het
Ubr4 T C 4: 139,135,131 (GRCm39) F821S possibly damaging Het
Vmn1r32 T C 6: 66,529,922 (GRCm39) N285D probably benign Het
Vmn2r23 T C 6: 123,718,741 (GRCm39) L698P possibly damaging Het
Wnt8a T A 18: 34,675,474 (GRCm39) L18Q possibly damaging Het
Zfp747 T C 7: 126,973,666 (GRCm39) E168G probably benign 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
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 2015-12-18