Incidental Mutation 'R0646:Med13'
ID 57181
Institutional Source Beutler Lab
Gene Symbol Med13
Ensembl Gene ENSMUSG00000034297
Gene Name mediator complex subunit 13
Synonyms 1110067M05Rik, Thrap1, Trap240
MMRRC Submission 038831-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R0646 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 86157859-86248422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86221915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 238 (Q238L)
Ref Sequence ENSEMBL: ENSMUSP00000044268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043624]
AlphaFold Q5SWW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000043624
AA Change: Q238L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: Q238L

DomainStartEndE-ValueType
Pfam:Med13_N 1 384 5e-130 PFAM
low complexity region 438 451 N/A INTRINSIC
low complexity region 531 540 N/A INTRINSIC
low complexity region 796 814 N/A INTRINSIC
low complexity region 984 998 N/A INTRINSIC
low complexity region 1001 1029 N/A INTRINSIC
low complexity region 1463 1476 N/A INTRINSIC
low complexity region 1502 1517 N/A INTRINSIC
low complexity region 1522 1550 N/A INTRINSIC
low complexity region 1559 1570 N/A INTRINSIC
low complexity region 1577 1596 N/A INTRINSIC
Pfam:Med13_C 1637 2161 3.5e-146 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157605
Meta Mutation Damage Score 0.0782 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (123/130)
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 (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele exhibited in the heart exhibit increased susceptibility to obesity and worsened glucose intolerance when fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C T 7: 29,260,710 (GRCm39) noncoding transcript Het
Abcb11 A G 2: 69,115,627 (GRCm39) I579T probably damaging Het
Abcc9 T C 6: 142,627,830 (GRCm39) N400S probably benign Het
Adarb2 T C 13: 8,781,855 (GRCm39) L577P probably damaging Het
Agt A C 8: 125,283,852 (GRCm39) N422K probably damaging Het
Ahnak A T 19: 8,990,766 (GRCm39) K4017* probably null Het
Akap13 C A 7: 75,397,494 (GRCm39) Q2575K probably damaging Het
Aldh3a2 A T 11: 61,144,541 (GRCm39) I339K probably damaging Het
Alox15 G T 11: 70,236,450 (GRCm39) Y483* probably null Het
Ampd1 A T 3: 103,006,913 (GRCm39) I713F probably damaging Het
Amph A T 13: 19,297,286 (GRCm39) E344V possibly damaging Het
Arhgef18 T C 8: 3,436,959 (GRCm39) Y250H probably damaging Het
Arid5b A G 10: 67,932,807 (GRCm39) S1032P probably damaging Het
Armc8 C A 9: 99,387,741 (GRCm39) L393F probably damaging Het
Bpnt1 A G 1: 185,077,623 (GRCm39) probably null Het
Cachd1 G A 4: 100,845,418 (GRCm39) R970H probably damaging Het
Cd207 T C 6: 83,652,738 (GRCm39) T131A probably benign Het
Cd83 G A 13: 43,951,009 (GRCm39) V54I probably benign Het
Cfap43 T C 19: 47,752,115 (GRCm39) K1086E probably benign Het
Cfap65 A T 1: 74,941,328 (GRCm39) V1837E probably benign Het
Clcnka T A 4: 141,123,917 (GRCm39) H89L probably benign Het
Cnga4 T C 7: 105,054,182 (GRCm39) I50T possibly damaging Het
Cog5 A G 12: 31,887,358 (GRCm39) probably benign Het
Col11a2 T A 17: 34,278,322 (GRCm39) probably null Het
Col28a1 T G 6: 8,175,291 (GRCm39) I186L possibly damaging Het
Col4a2 T A 8: 11,481,252 (GRCm39) M808K probably benign Het
Copb2 A G 9: 98,445,528 (GRCm39) probably benign Het
Dbnl G A 11: 5,745,441 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,493 (GRCm39) T51A possibly damaging Het
Dcp1a A T 14: 30,224,842 (GRCm39) M123L probably damaging Het
Ddx42 T A 11: 106,123,659 (GRCm39) F217I probably benign Het
Dlc1 T C 8: 37,325,205 (GRCm39) T367A probably benign Het
Dmgdh A T 13: 93,888,863 (GRCm39) T834S probably benign Het
Dnah8 T C 17: 30,903,147 (GRCm39) S929P probably damaging Het
Dnase1l2 C A 17: 24,660,056 (GRCm39) V271L possibly damaging Het
Dsc1 T C 18: 20,229,114 (GRCm39) Y392C probably damaging Het
Edn1 T C 13: 42,458,718 (GRCm39) probably benign Het
Efcab3 G A 11: 104,611,327 (GRCm39) D390N probably benign Het
Eps8l3 T C 3: 107,792,126 (GRCm39) L351P probably damaging Het
F12 G A 13: 55,570,296 (GRCm39) probably benign Het
Fam47e T C 5: 92,726,317 (GRCm39) probably benign Het
Fcrl5 C A 3: 87,349,320 (GRCm39) Q32K probably benign Het
Fndc1 C T 17: 7,960,505 (GRCm39) V1637I possibly damaging Het
Foxg1 G T 12: 49,431,350 (GRCm39) probably benign Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Galnt5 A T 2: 57,889,097 (GRCm39) K232N probably benign Het
Ggt5 G A 10: 75,438,482 (GRCm39) V68M probably damaging Het
Gm16519 T C 17: 71,236,101 (GRCm39) C17R probably benign Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Gm9631 T G 11: 121,836,455 (GRCm39) D28A probably damaging Het
Gpx2 T C 12: 76,842,087 (GRCm39) I21M probably benign Het
H2-Q2 T G 17: 35,564,661 (GRCm39) D354E probably damaging Het
Icam2 A T 11: 106,271,717 (GRCm39) I71K probably damaging Het
Il12a T C 3: 68,605,223 (GRCm39) probably benign Het
Insm2 C G 12: 55,647,225 (GRCm39) A323G probably benign Het
Itga1 T C 13: 115,104,835 (GRCm39) T1064A probably benign Het
Itgad T A 7: 127,773,176 (GRCm39) V11E possibly damaging Het
Kctd15 C T 7: 34,344,306 (GRCm39) S115N probably damaging Het
Klra5 A G 6: 129,880,527 (GRCm39) W124R probably damaging Het
Kng2 T A 16: 22,806,486 (GRCm39) D571V probably benign Het
Kpna6 A T 4: 129,544,583 (GRCm39) F380I probably benign Het
Lipo3 A T 19: 33,762,169 (GRCm39) Y109* probably null Het
Lrrc37 T A 11: 103,503,986 (GRCm39) K485* probably null Het
Man2a2 T C 7: 80,012,945 (GRCm39) H540R possibly damaging Het
Map2k4 T C 11: 65,603,101 (GRCm39) E188G probably damaging Het
Mast4 T C 13: 102,895,252 (GRCm39) probably benign Het
Mbtd1 A G 11: 93,796,038 (GRCm39) D25G probably damaging Het
Mmachc A G 4: 116,560,851 (GRCm39) Y215H probably damaging Het
Mtor T A 4: 148,568,811 (GRCm39) Y1110* probably null Het
Nek2 A G 1: 191,554,331 (GRCm39) N57D probably damaging Het
Nek7 ACCCC ACCC 1: 138,443,431 (GRCm39) probably null Het
Neo1 G T 9: 58,838,317 (GRCm39) T489K probably damaging Het
Neu1 T A 17: 35,153,736 (GRCm39) Y387N probably damaging Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nle1 G A 11: 82,795,671 (GRCm39) L259F probably damaging Het
Nrde2 G A 12: 100,110,105 (GRCm39) Q309* probably null Het
Nufip2 C T 11: 77,577,279 (GRCm39) H76Y probably benign Het
Or10ak16 A C 4: 118,750,687 (GRCm39) T136P probably damaging Het
Or2y13 A T 11: 49,415,405 (GRCm39) N285I probably damaging Het
Or4k6 A T 14: 50,476,096 (GRCm39) I82N probably damaging Het
Or52e18 A T 7: 104,609,018 (GRCm39) I307N probably benign Het
Or52r1c T C 7: 102,735,358 (GRCm39) F206S probably damaging Het
Or9s18 A T 13: 65,300,877 (GRCm39) I280F probably damaging Het
Pcdhb5 A G 18: 37,454,675 (GRCm39) T352A probably benign Het
Pcdhb7 A T 18: 37,476,442 (GRCm39) D526V probably damaging Het
Phkg1 A T 5: 129,893,394 (GRCm39) probably null Het
Plg C T 17: 12,637,623 (GRCm39) T744M probably damaging Het
Plxnd1 A C 6: 115,935,660 (GRCm39) probably benign Het
Poglut1 A T 16: 38,349,837 (GRCm39) I312N probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppt1 A G 4: 122,737,892 (GRCm39) M77V probably benign Het
Pramel26 A C 4: 143,539,155 (GRCm39) S113A possibly damaging Het
Pramel5 G T 4: 143,998,190 (GRCm39) T351N probably damaging Het
Psmb4 G A 3: 94,792,275 (GRCm39) R216C probably benign Het
Ptprd T C 4: 76,002,640 (GRCm39) T699A probably damaging Het
Retreg3 A T 11: 100,989,455 (GRCm39) probably benign Het
Sanbr C T 11: 23,525,491 (GRCm39) R716H probably damaging Het
Scaper G A 9: 55,665,340 (GRCm39) A389V probably damaging Het
Serinc5 G A 13: 92,825,245 (GRCm39) D225N possibly damaging Het
Slco1a1 T G 6: 141,871,480 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sod3 A T 5: 52,525,421 (GRCm39) D40V probably benign Het
Sorcs3 C A 19: 48,194,734 (GRCm39) A39E probably benign Het
Spon1 A T 7: 113,639,056 (GRCm39) T761S probably benign Het
Syde2 A G 3: 145,720,004 (GRCm39) probably null Het
Synm T A 7: 67,408,916 (GRCm39) D154V probably benign Het
Synpo2 T C 3: 122,908,098 (GRCm39) E406G probably damaging Het
Tcea3 T A 4: 135,975,382 (GRCm39) L8* probably null Het
Tec G A 5: 72,980,840 (GRCm39) L33F probably damaging Het
Tex15 T A 8: 34,072,354 (GRCm39) S2634T possibly damaging Het
Tg T A 15: 66,601,475 (GRCm39) Y162N probably damaging Het
Tmem8b G A 4: 43,690,123 (GRCm39) V853I probably benign Het
Togaram1 A G 12: 65,068,240 (GRCm39) K1748E probably damaging Het
Ttn T C 2: 76,728,822 (GRCm39) probably benign Het
Usp36 C T 11: 118,163,847 (GRCm39) D234N probably damaging Het
Usp40 G A 1: 87,906,244 (GRCm39) P664S probably benign Het
Vmn1r54 T A 6: 90,246,635 (GRCm39) L183H probably benign Het
Vmn1r58 T G 7: 5,413,676 (GRCm39) I185L probably benign Het
Wnt8a A T 18: 34,680,618 (GRCm39) R328W probably benign Het
Yars1 A G 4: 129,107,732 (GRCm39) probably benign Het
Zbtb49 A C 5: 38,358,018 (GRCm39) M745R probably damaging Het
Zeb1 T G 18: 5,759,027 (GRCm39) F162V probably damaging Het
Zfp369 A T 13: 65,445,362 (GRCm39) H835L probably damaging Het
Zic5 A G 14: 122,701,351 (GRCm39) V460A unknown Het
Zp3 A G 5: 136,013,210 (GRCm39) N181D possibly damaging Het
Other mutations in Med13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Med13 APN 11 86,181,866 (GRCm39) splice site probably benign
IGL01391:Med13 APN 11 86,219,323 (GRCm39) missense probably benign
IGL01767:Med13 APN 11 86,210,609 (GRCm39) missense probably benign 0.38
IGL01830:Med13 APN 11 86,179,754 (GRCm39) splice site probably benign
IGL01859:Med13 APN 11 86,174,577 (GRCm39) missense possibly damaging 0.86
IGL01924:Med13 APN 11 86,199,522 (GRCm39) splice site probably benign
IGL02080:Med13 APN 11 86,174,638 (GRCm39) missense probably damaging 0.97
IGL02138:Med13 APN 11 86,177,591 (GRCm39) missense probably damaging 0.99
IGL02259:Med13 APN 11 86,248,327 (GRCm39) missense possibly damaging 0.89
IGL02339:Med13 APN 11 86,179,765 (GRCm39) missense probably benign 0.16
IGL02399:Med13 APN 11 86,174,771 (GRCm39) splice site probably benign
IGL02646:Med13 APN 11 86,174,212 (GRCm39) missense probably benign 0.00
IGL03227:Med13 APN 11 86,218,618 (GRCm39) splice site probably benign
R0197_Med13_854 UTSW 11 86,197,864 (GRCm39) missense probably benign 0.13
R0360_Med13_060 UTSW 11 86,219,987 (GRCm39) splice site probably benign
R2359_Med13_079 UTSW 11 86,181,861 (GRCm39) splice site probably benign
R3735_Med13_085 UTSW 11 86,170,484 (GRCm39) missense probably benign 0.00
R4974_Med13_508 UTSW 11 86,189,673 (GRCm39) missense probably damaging 0.98
R0116:Med13 UTSW 11 86,210,723 (GRCm39) missense probably damaging 0.99
R0189:Med13 UTSW 11 86,210,702 (GRCm39) missense probably benign
R0197:Med13 UTSW 11 86,197,864 (GRCm39) missense probably benign 0.13
R0206:Med13 UTSW 11 86,191,682 (GRCm39) splice site probably benign
R0208:Med13 UTSW 11 86,191,682 (GRCm39) splice site probably benign
R0310:Med13 UTSW 11 86,236,829 (GRCm39) missense probably benign 0.11
R0360:Med13 UTSW 11 86,219,987 (GRCm39) splice site probably benign
R0413:Med13 UTSW 11 86,190,033 (GRCm39) splice site probably benign
R0482:Med13 UTSW 11 86,175,977 (GRCm39) missense probably benign 0.41
R0497:Med13 UTSW 11 86,167,809 (GRCm39) splice site probably benign
R0589:Med13 UTSW 11 86,174,075 (GRCm39) missense probably damaging 1.00
R0601:Med13 UTSW 11 86,236,788 (GRCm39) missense possibly damaging 0.47
R0701:Med13 UTSW 11 86,197,864 (GRCm39) missense probably benign 0.13
R0709:Med13 UTSW 11 86,210,422 (GRCm39) missense possibly damaging 0.95
R0711:Med13 UTSW 11 86,192,179 (GRCm39) splice site probably benign
R0734:Med13 UTSW 11 86,192,063 (GRCm39) missense probably benign
R0883:Med13 UTSW 11 86,197,864 (GRCm39) missense probably benign 0.13
R1793:Med13 UTSW 11 86,220,177 (GRCm39) missense probably benign 0.45
R1926:Med13 UTSW 11 86,179,899 (GRCm39) missense possibly damaging 0.47
R1959:Med13 UTSW 11 86,189,805 (GRCm39) missense probably damaging 1.00
R2286:Med13 UTSW 11 86,210,515 (GRCm39) missense probably benign 0.05
R2359:Med13 UTSW 11 86,181,861 (GRCm39) splice site probably benign
R2444:Med13 UTSW 11 86,222,786 (GRCm39) missense probably damaging 1.00
R2679:Med13 UTSW 11 86,189,403 (GRCm39) missense probably benign 0.00
R2879:Med13 UTSW 11 86,189,988 (GRCm39) missense possibly damaging 0.61
R3439:Med13 UTSW 11 86,176,123 (GRCm39) missense probably damaging 1.00
R3735:Med13 UTSW 11 86,170,484 (GRCm39) missense probably benign 0.00
R4333:Med13 UTSW 11 86,179,009 (GRCm39) missense probably benign
R4558:Med13 UTSW 11 86,189,880 (GRCm39) missense probably damaging 1.00
R4598:Med13 UTSW 11 86,169,392 (GRCm39) missense probably damaging 0.97
R4773:Med13 UTSW 11 86,167,746 (GRCm39) missense probably damaging 0.99
R4801:Med13 UTSW 11 86,169,599 (GRCm39) missense probably damaging 1.00
R4802:Med13 UTSW 11 86,169,599 (GRCm39) missense probably damaging 1.00
R4806:Med13 UTSW 11 86,189,403 (GRCm39) missense probably benign 0.00
R4940:Med13 UTSW 11 86,178,944 (GRCm39) missense probably damaging 1.00
R4974:Med13 UTSW 11 86,189,673 (GRCm39) missense probably damaging 0.98
R5056:Med13 UTSW 11 86,219,391 (GRCm39) missense probably benign 0.00
R5133:Med13 UTSW 11 86,210,675 (GRCm39) missense probably benign 0.32
R5206:Med13 UTSW 11 86,210,705 (GRCm39) missense probably damaging 1.00
R5352:Med13 UTSW 11 86,192,294 (GRCm39) missense possibly damaging 0.82
R5534:Med13 UTSW 11 86,210,191 (GRCm39) missense probably benign 0.09
R5556:Med13 UTSW 11 86,218,664 (GRCm39) missense probably benign 0.25
R5633:Med13 UTSW 11 86,169,757 (GRCm39) splice site probably benign
R5769:Med13 UTSW 11 86,236,829 (GRCm39) missense probably benign 0.11
R6236:Med13 UTSW 11 86,219,357 (GRCm39) missense probably damaging 0.99
R6479:Med13 UTSW 11 86,248,353 (GRCm39) start gained probably benign
R6487:Med13 UTSW 11 86,221,976 (GRCm39) missense probably damaging 1.00
R6524:Med13 UTSW 11 86,192,293 (GRCm39) missense probably damaging 0.98
R6528:Med13 UTSW 11 86,189,780 (GRCm39) missense probably damaging 1.00
R6805:Med13 UTSW 11 86,169,622 (GRCm39) missense possibly damaging 0.48
R6913:Med13 UTSW 11 86,210,702 (GRCm39) missense probably benign
R7221:Med13 UTSW 11 86,178,921 (GRCm39) missense probably benign 0.00
R7254:Med13 UTSW 11 86,210,661 (GRCm39) missense probably benign
R7267:Med13 UTSW 11 86,199,652 (GRCm39) missense probably benign 0.01
R7309:Med13 UTSW 11 86,181,888 (GRCm39) missense probably benign 0.00
R7404:Med13 UTSW 11 86,177,272 (GRCm39) missense possibly damaging 0.53
R7586:Med13 UTSW 11 86,161,828 (GRCm39) missense probably damaging 0.99
R7704:Med13 UTSW 11 86,236,744 (GRCm39) nonsense probably null
R7922:Med13 UTSW 11 86,161,831 (GRCm39) missense probably damaging 0.98
R7943:Med13 UTSW 11 86,169,352 (GRCm39) missense probably damaging 0.97
R8062:Med13 UTSW 11 86,210,264 (GRCm39) missense probably benign
R8075:Med13 UTSW 11 86,163,296 (GRCm39) missense probably damaging 0.98
R8207:Med13 UTSW 11 86,194,375 (GRCm39) missense probably damaging 1.00
R8671:Med13 UTSW 11 86,161,923 (GRCm39) missense probably damaging 1.00
R9056:Med13 UTSW 11 86,189,660 (GRCm39) nonsense probably null
R9084:Med13 UTSW 11 86,191,621 (GRCm39) missense probably damaging 1.00
R9148:Med13 UTSW 11 86,192,297 (GRCm39) missense probably benign 0.27
R9329:Med13 UTSW 11 86,189,283 (GRCm39) missense probably benign 0.10
R9380:Med13 UTSW 11 86,177,598 (GRCm39) missense probably benign 0.42
R9515:Med13 UTSW 11 86,199,727 (GRCm39) missense probably benign 0.00
R9516:Med13 UTSW 11 86,179,801 (GRCm39) missense probably benign 0.01
R9690:Med13 UTSW 11 86,169,670 (GRCm39) missense probably damaging 1.00
R9751:Med13 UTSW 11 86,189,984 (GRCm39) missense probably damaging 1.00
R9752:Med13 UTSW 11 86,174,147 (GRCm39) missense possibly damaging 0.87
R9764:Med13 UTSW 11 86,177,345 (GRCm39) missense possibly damaging 0.89
Z1176:Med13 UTSW 11 86,246,249 (GRCm39) missense probably damaging 1.00
Z1176:Med13 UTSW 11 86,236,688 (GRCm39) missense probably benign 0.45
Z1176:Med13 UTSW 11 86,219,370 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACTGAATGCCAAGAGAGCGGTTTG -3'
(R):5'- TGTTTAGCATAGCTACCCAGGGGAAC -3'

Sequencing Primer
(F):5'- CCAAGAGAGCGGTTTGTTATTTAG -3'
(R):5'- TTTCTTCAAGTTGCTTAGAGTCAG -3'
Posted On 2013-07-11