Incidental Mutation 'R0189:Med13'
ID 23125
Institutional Source Beutler Lab
Gene Symbol Med13
Ensembl Gene ENSMUSG00000034297
Gene Name mediator complex subunit 13
Synonyms 1110067M05Rik, Thrap1, Trap240
MMRRC Submission 038450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R0189 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 86157859-86248422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86210702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 480 (V480A)
Ref Sequence ENSEMBL: ENSMUSP00000044268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043624]
AlphaFold Q5SWW4
Predicted Effect probably benign
Transcript: ENSMUST00000043624
AA Change: V480A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044268
Gene: ENSMUSG00000034297
AA Change: V480A

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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.1%
Validation Efficiency 98% (96/98)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 109,999,479 (GRCm39) W1459R probably damaging Het
Abca9 A T 11: 110,032,488 (GRCm39) probably benign Het
Adam25 T A 8: 41,208,467 (GRCm39) C578S probably damaging Het
Adam32 T A 8: 25,412,353 (GRCm39) probably null Het
Add1 T C 5: 34,773,992 (GRCm39) V67A probably benign Het
Aggf1 A T 13: 95,492,988 (GRCm39) probably benign Het
Ahcyl2 A T 6: 29,891,242 (GRCm39) I449F probably benign Het
Ak6 A G 13: 100,791,650 (GRCm39) Y31C probably damaging Het
Akap6 T C 12: 53,188,037 (GRCm39) V1817A probably benign Het
Arhgef17 G T 7: 100,578,057 (GRCm39) P964T probably damaging Het
Atxn7l3b A T 10: 112,764,485 (GRCm39) L48Q possibly damaging Het
Bbs10 T G 10: 111,136,926 (GRCm39) S680A probably damaging Het
Bcl7c G A 7: 127,304,936 (GRCm39) T164I probably damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Ccdc110 T A 8: 46,388,119 (GRCm39) D25E probably damaging Het
Ccdc83 T A 7: 89,875,891 (GRCm39) T327S possibly damaging Het
Coro1b T C 19: 4,203,250 (GRCm39) Y364H probably damaging Het
Cstf3 A G 2: 104,482,791 (GRCm39) D313G probably damaging Het
Dlgap5 T A 14: 47,650,432 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,547 (GRCm39) I83N probably damaging Het
Eea1 A T 10: 95,831,444 (GRCm39) K178N possibly damaging Het
Efr3b T A 12: 4,032,925 (GRCm39) D144V probably damaging Het
Gfus C A 15: 75,798,827 (GRCm39) D127Y probably damaging Het
Gm1110 T A 9: 26,794,514 (GRCm39) E504V probably null Het
Got2 T C 8: 96,614,881 (GRCm39) H18R probably benign Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Has2 A T 15: 56,531,831 (GRCm39) F295I probably damaging Het
Hcn3 T C 3: 89,056,107 (GRCm39) D519G probably damaging Het
Ino80 T A 2: 119,210,160 (GRCm39) D1377V probably benign Het
Iqsec3 A T 6: 121,390,521 (GRCm39) probably benign Het
Kif3c T A 12: 3,415,989 (GRCm39) S3R probably benign Het
Krt17 A G 11: 100,151,445 (GRCm39) I116T possibly damaging Het
Lrba T C 3: 86,275,816 (GRCm39) V1728A probably damaging Het
Map3k6 G T 4: 132,974,252 (GRCm39) V550L possibly damaging Het
Mcph1 T C 8: 18,838,487 (GRCm39) V803A probably damaging Het
Ms4a20 A G 19: 11,074,311 (GRCm39) V207A possibly damaging Het
Msh5 T C 17: 35,248,630 (GRCm39) E772G probably null Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndfip2 T C 14: 105,542,174 (GRCm39) L308P probably damaging Het
Ndufb10 T C 17: 24,943,209 (GRCm39) T34A probably benign Het
Nipal3 A T 4: 135,195,829 (GRCm39) I258N possibly damaging Het
Nup54 A G 5: 92,570,423 (GRCm39) V328A probably damaging Het
Oprm1 T C 10: 6,739,071 (GRCm39) V66A possibly damaging Het
Or10p21 T A 10: 128,847,191 (GRCm39) F12L possibly damaging Het
Or51ah3 G T 7: 103,210,289 (GRCm39) V202F probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or8b56 T A 9: 38,739,111 (GRCm39) Y41* probably null Het
Or9s14 T C 1: 92,535,615 (GRCm39) F19L probably damaging Het
Peg12 G A 7: 62,113,296 (GRCm39) T267I unknown Het
Phf20 A G 2: 156,145,061 (GRCm39) S890G probably benign Het
Plk2 C T 13: 110,535,997 (GRCm39) T567M probably damaging Het
Pola2 A T 19: 5,992,370 (GRCm39) probably benign Het
Ppp1r12b A G 1: 134,793,514 (GRCm39) probably null Het
Prickle1 A T 15: 93,400,900 (GRCm39) L528* probably null Het
Prpf6 T A 2: 181,297,250 (GRCm39) N903K probably benign Het
Ptprc G A 1: 138,010,453 (GRCm39) A601V probably benign Het
Ranbp1 A T 16: 18,059,607 (GRCm39) probably null Het
Rapgef6 C T 11: 54,582,075 (GRCm39) S1334L probably benign Het
Rgs2 T C 1: 143,878,022 (GRCm39) probably null Het
Ripk2 A T 4: 16,129,125 (GRCm39) probably null Het
Rnf17 A G 14: 56,719,650 (GRCm39) S967G probably null Het
Rock2 T A 12: 17,009,517 (GRCm39) probably benign Het
Rpusd3 C T 6: 113,392,514 (GRCm39) probably null Het
Scgb1b20 G T 7: 33,072,935 (GRCm39) V48L probably benign Het
Sec16a T A 2: 26,314,426 (GRCm39) probably null Het
Serpina5 T A 12: 104,069,589 (GRCm39) L267H probably damaging Het
Slc12a3 C T 8: 95,082,986 (GRCm39) H875Y probably benign Het
Slc45a4 A G 15: 73,453,763 (GRCm39) S745P probably benign Het
Sucla2 T C 14: 73,830,088 (GRCm39) V375A probably damaging Het
Sun2 C A 15: 79,621,277 (GRCm39) V213F probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 C T 6: 7,562,424 (GRCm39) R129C probably damaging Het
Taf6 T C 5: 138,180,975 (GRCm39) E202G probably benign Het
Tex21 T A 12: 76,286,307 (GRCm39) H64L probably benign Het
Tgs1 A G 4: 3,593,620 (GRCm39) S503G probably benign Het
Tmem184c C T 8: 78,324,441 (GRCm39) V350I possibly damaging Het
Tnks1bp1 A G 2: 84,901,273 (GRCm39) S960G possibly damaging Het
Trbc2 T C 6: 41,525,083 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,581,518 (GRCm39) probably benign Het
Vmn1r39 T A 6: 66,782,181 (GRCm39) T46S probably benign Het
Vmn1r61 T C 7: 5,613,699 (GRCm39) H205R probably benign Het
Zdhhc14 T C 17: 5,775,539 (GRCm39) S264P possibly damaging Het
Zfp101 T A 17: 33,601,213 (GRCm39) H181L 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
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
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'- AGGTGTTTTAGTCACTCCTTCATCAACC -3'
(R):5'- CTGCACATGGGCTTTATGAATTGTTCTG -3'

Sequencing Primer
(F):5'- CCACATCACAAGGATGAGGACTAAG -3'
(R):5'- TTTAGGGCAGCAACAGCA -3'
Posted On 2013-04-16