Incidental Mutation 'R6528:Med13'
ID 522101
Institutional Source Beutler Lab
Gene Symbol Med13
Ensembl Gene ENSMUSG00000034297
Gene Name mediator complex subunit 13
Synonyms 1110067M05Rik, Thrap1, Trap240
MMRRC Submission 044654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R6528 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 86157859-86248422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86189780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1043 (P1043L)
Ref Sequence ENSEMBL: ENSMUSP00000044268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043624]
AlphaFold Q5SWW4
Predicted Effect probably damaging
Transcript: ENSMUST00000043624
AA Change: P1043L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: P1043L

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: ENSMUST00000143819
Meta Mutation Damage Score 0.1985 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,596 (GRCm39) R286H possibly damaging Het
Arhgap29 T A 3: 121,808,351 (GRCm39) N1176K probably benign Het
Cacfd1 T G 2: 26,908,951 (GRCm39) D97E probably benign Het
Ccnj C A 19: 40,820,529 (GRCm39) probably null Het
Chad A G 11: 94,456,450 (GRCm39) Y176C probably damaging Het
Chd5 T C 4: 152,441,133 (GRCm39) L191P probably damaging Het
Cmtm1 T C 8: 105,035,927 (GRCm39) D190G possibly damaging Het
Cyp3a16 C T 5: 145,377,241 (GRCm39) A449T probably damaging Het
Eml5 T C 12: 98,790,896 (GRCm39) E1334G probably benign Het
Endou C T 15: 97,617,510 (GRCm39) E147K probably damaging Het
Fbxo21 C A 5: 118,138,421 (GRCm39) H449N probably benign Het
Fkbp15 A G 4: 62,250,507 (GRCm39) I363T probably damaging Het
Gm12887 C A 4: 121,472,834 (GRCm39) G103C probably damaging Het
Gm14410 T A 2: 176,885,301 (GRCm39) H321L probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Irgm2 C T 11: 58,110,878 (GRCm39) P202S probably benign Het
Khsrp G A 17: 57,330,543 (GRCm39) T551I probably damaging Het
Lpin2 T A 17: 71,551,000 (GRCm39) I720N probably damaging Het
Lypd8 G A 11: 58,275,439 (GRCm39) G58E probably damaging Het
Mdn1 G T 4: 32,713,780 (GRCm39) L1952F probably damaging Het
Mycbp2 T C 14: 103,380,317 (GRCm39) T3832A probably damaging Het
Nrxn3 C T 12: 89,479,819 (GRCm39) R654C probably damaging Het
Or10a3m T C 7: 108,312,638 (GRCm39) L14P probably damaging Het
Or12j3 G T 7: 139,953,354 (GRCm39) H56Q possibly damaging Het
Or13a22 A G 7: 140,072,964 (GRCm39) M138V probably damaging Het
Or8k35 T C 2: 86,424,809 (GRCm39) D121G probably damaging Het
Pcdhb6 A G 18: 37,467,556 (GRCm39) D159G probably damaging Het
Plec T C 15: 76,058,630 (GRCm39) E3759G probably damaging Het
Plekho1 C T 3: 95,896,633 (GRCm39) D236N probably damaging Het
Pnma1 T A 12: 84,194,197 (GRCm39) I169F probably benign Het
Ppl T A 16: 4,905,480 (GRCm39) H1605L probably benign Het
Ppp2r2b T A 18: 42,821,403 (GRCm39) M252L probably benign Het
Pramel29 A G 4: 143,935,381 (GRCm39) V120A probably damaging Het
Prickle4 T A 17: 48,000,258 (GRCm39) R246* probably null Het
Rad50 G A 11: 53,543,109 (GRCm39) T1235I probably damaging Het
Ranbp10 T C 8: 106,506,588 (GRCm39) N244S probably damaging Het
Robo4 T C 9: 37,315,664 (GRCm39) S306P possibly damaging Het
Shox2 C A 3: 66,888,618 (GRCm39) R91L probably benign Het
Tbx5 A G 5: 120,021,176 (GRCm39) E394G probably damaging Het
Tcl1b5 A G 12: 105,145,258 (GRCm39) N74S probably benign Het
Tgif1 G A 17: 71,153,555 (GRCm39) probably benign Het
Tmem128 T A 5: 38,423,843 (GRCm39) probably null Het
Trio A G 15: 27,805,956 (GRCm39) S511P probably damaging Het
Trps1 A G 15: 50,685,823 (GRCm39) I114T probably benign Het
Ttll8 G T 15: 88,798,441 (GRCm39) Q765K probably benign Het
Usp17ld A T 7: 102,899,962 (GRCm39) D323E probably damaging Het
Vmn1r232 G A 17: 21,134,309 (GRCm39) T97I probably benign Het
Vmn2r28 T A 7: 5,493,684 (GRCm39) R87S probably benign Het
Vps26b C G 9: 26,921,762 (GRCm39) E254D probably benign Het
Vps8 C A 16: 21,372,875 (GRCm39) Y113* probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xcr1 A T 9: 123,685,048 (GRCm39) I238N probably damaging Het
Zar1l T A 5: 150,430,595 (GRCm39) E272V probably damaging Het
Zfp451 A G 1: 33,816,862 (GRCm39) Y146H probably damaging Het
Zfp54 G T 17: 21,653,736 (GRCm39) E77* probably null 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
R0646:Med13 UTSW 11 86,221,915 (GRCm39) missense possibly damaging 0.95
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
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'- CACCGATACTGTGCTTCTTGG -3'
(R):5'- TCTTTTGGGATGCCTCCGAG -3'

Sequencing Primer
(F):5'- GTTGGGTCTGGAATGTAAACTCCAAC -3'
(R):5'- GCAGCGCACCTCCTAGTAATG -3'
Posted On 2018-06-06