Incidental Mutation 'R9445:Med13l'
ID 713872
Institutional Source Beutler Lab
Gene Symbol Med13l
Ensembl Gene ENSMUSG00000018076
Gene Name mediator complex subunit 13-like
Synonyms 9030618F05Rik, Trap240L, 6330591G05Rik, Thrap2, 2210413I17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R9445 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118698744-118903503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118862214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 386 (S386T)
Ref Sequence ENSEMBL: ENSMUSP00000098379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100816] [ENSMUST00000201010]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100816
AA Change: S386T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: S386T

DomainStartEndE-ValueType
Pfam:Med13_N 1 380 2.5e-116 PFAM
low complexity region 442 460 N/A INTRINSIC
low complexity region 542 558 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
low complexity region 1044 1060 N/A INTRINSIC
low complexity region 1541 1593 N/A INTRINSIC
low complexity region 1601 1611 N/A INTRINSIC
Pfam:Med13_C 1675 2197 1e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201010
AA Change: S386T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: S386T

DomainStartEndE-ValueType
Pfam:Med13_N 1 380 1e-112 PFAM
low complexity region 442 460 N/A INTRINSIC
low complexity region 542 558 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
low complexity region 1044 1060 N/A INTRINSIC
low complexity region 1541 1593 N/A INTRINSIC
low complexity region 1601 1611 N/A INTRINSIC
Pfam:Med13_C 1675 2206 1.7e-138 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T A 14: 41,818,174 (GRCm39) H23Q possibly damaging Het
Abca14 T C 7: 119,877,691 (GRCm39) S1069P probably benign Het
Abo A G 2: 26,733,720 (GRCm39) W160R probably damaging Het
Adgrb1 A T 15: 74,435,807 (GRCm39) probably benign Het
Ahnak2 T C 12: 112,745,978 (GRCm39) Q1624R Het
Amy2a1 T A 3: 113,325,324 (GRCm39) N90I possibly damaging Het
Bod1l C T 5: 41,974,619 (GRCm39) V2232I probably benign Het
Brsk2 T A 7: 141,538,149 (GRCm39) H98Q probably damaging Het
Caskin2 C T 11: 115,694,576 (GRCm39) V342I probably damaging Het
Ccdc13 T C 9: 121,627,156 (GRCm39) N707S probably benign Het
Cdv3 T C 9: 103,241,240 (GRCm39) E109G probably damaging Het
Coro2a C T 4: 46,540,558 (GRCm39) E454K probably benign Het
Cpq A T 15: 33,213,391 (GRCm39) I137F possibly damaging Het
Ctsj G A 13: 61,151,838 (GRCm39) T73I possibly damaging Het
Dchs2 A G 3: 83,146,284 (GRCm39) D710G probably damaging Het
Drd4 T C 7: 140,872,162 (GRCm39) V71A probably damaging Het
Eef2k T C 7: 120,457,694 (GRCm39) C18R probably benign Het
Ercc4 C A 16: 12,945,474 (GRCm39) D386E probably benign Het
F2rl2 A C 13: 95,837,622 (GRCm39) L222F probably benign Het
Fkbp4 T C 6: 128,413,580 (GRCm39) D68G probably damaging Het
Fsip2 A T 2: 82,806,132 (GRCm39) D817V probably damaging Het
Gm19410 G A 8: 36,239,652 (GRCm39) R116H possibly damaging Het
Gm9376 A T 14: 118,504,502 (GRCm39) probably benign Het
Golim4 A T 3: 75,813,775 (GRCm39) F150I probably damaging Het
Gtpbp2 G A 17: 46,478,757 (GRCm39) V525M probably damaging Het
Hook1 A G 4: 95,901,499 (GRCm39) N486D probably benign Het
Hook1 A G 4: 95,903,049 (GRCm39) S513G probably benign Het
Hoxd9 A T 2: 74,528,415 (GRCm39) T6S probably damaging Het
Hsd3b2 A T 3: 98,619,051 (GRCm39) L298Q possibly damaging Het
Idh3b A C 2: 130,123,572 (GRCm39) S172A probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Ighv5-17 T A 12: 113,822,858 (GRCm39) T88S possibly damaging Het
Il16 T A 7: 83,337,380 (GRCm39) K112* probably null Het
Irag1 A T 7: 110,545,161 (GRCm39) I45N possibly damaging Het
Kalrn T A 16: 33,805,600 (GRCm39) I2646F probably benign Het
Kcnt1 G T 2: 25,767,959 (GRCm39) G23C probably damaging Het
Kirrel2 T A 7: 30,150,260 (GRCm39) I523F probably damaging Het
Lrrc3b A T 14: 15,358,552 (GRCm38) L18H probably damaging Het
Mettl6 C T 14: 31,209,527 (GRCm39) probably null Het
Mocs2 C T 13: 114,961,879 (GRCm39) A120V possibly damaging Het
Mrpl39 T C 16: 84,531,346 (GRCm39) T74A probably benign Het
Myh2 T C 11: 67,069,754 (GRCm39) F367L probably damaging Het
N4bp1 G A 8: 87,587,238 (GRCm39) Q567* probably null Het
Naf1 A G 8: 67,336,097 (GRCm39) I341M probably damaging Het
Ncoa6 A T 2: 155,250,063 (GRCm39) N1080K probably benign Het
Nell1 C A 7: 49,632,474 (GRCm39) L36I possibly damaging Het
Nrxn2 A G 19: 6,522,448 (GRCm39) D446G probably damaging Het
Nrxn3 T A 12: 89,499,737 (GRCm39) C709* probably null Het
Or13p4 T G 4: 118,547,416 (GRCm39) T78P probably damaging Het
Or2ag17 A G 7: 106,389,464 (GRCm39) V248A probably damaging Het
Or2n1 A C 17: 38,486,694 (GRCm39) T240P probably damaging Het
Or2t26 C G 11: 49,039,879 (GRCm39) A265G probably benign Het
Or8g19 T A 9: 39,055,766 (GRCm39) Y123* probably null Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbx3 A G 2: 34,114,555 (GRCm39) probably benign Het
Pcnx1 T C 12: 81,964,981 (GRCm39) S383P probably damaging Het
Pde6h T G 6: 136,936,359 (GRCm39) F34C probably damaging Het
Pnliprp1 A G 19: 58,720,628 (GRCm39) probably benign Het
Pramel21 T C 4: 143,343,795 (GRCm39) L365P probably damaging Het
Prl8a9 C T 13: 27,748,498 (GRCm39) probably null Het
Qdpr T C 5: 45,596,669 (GRCm39) N165S probably benign Het
Rabl2 A G 15: 89,468,148 (GRCm39) F158L probably damaging Het
Rrp7a G T 15: 83,004,084 (GRCm39) C117* probably null Het
Ryr2 T C 13: 11,787,463 (GRCm39) Y970C probably damaging Het
Sf3b3 T C 8: 111,552,774 (GRCm39) T503A possibly damaging Het
Sipa1 T C 19: 5,704,198 (GRCm39) E708G probably damaging Het
Skor2 T A 18: 76,948,811 (GRCm39) S844R possibly damaging Het
Slc6a7 C T 18: 61,138,815 (GRCm39) C231Y probably damaging Het
Smgc A T 15: 91,729,665 (GRCm39) E206D probably benign Het
Tanc2 T C 11: 105,758,290 (GRCm39) S684P possibly damaging Het
Tep1 T C 14: 51,082,967 (GRCm39) T1014A possibly damaging Het
Tex19.1 A G 11: 121,038,283 (GRCm39) S214G probably benign Het
Trmt6 G A 2: 132,650,774 (GRCm39) S278L probably benign Het
Use1 T C 8: 71,821,200 (GRCm39) S156P probably benign Het
Znrf1 G A 8: 112,335,954 (GRCm39) V152M probably damaging Het
Other mutations in Med13l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Med13l APN 5 118,862,136 (GRCm39) missense probably damaging 0.99
IGL01012:Med13l APN 5 118,872,093 (GRCm39) missense probably damaging 0.99
IGL01316:Med13l APN 5 118,900,846 (GRCm39) missense probably damaging 1.00
IGL01529:Med13l APN 5 118,880,400 (GRCm39) missense probably damaging 1.00
IGL01731:Med13l APN 5 118,880,472 (GRCm39) missense probably benign 0.05
IGL01790:Med13l APN 5 118,731,587 (GRCm39) missense probably damaging 1.00
IGL02394:Med13l APN 5 118,886,898 (GRCm39) missense probably benign 0.37
IGL02432:Med13l APN 5 118,876,465 (GRCm39) missense possibly damaging 0.90
IGL02698:Med13l APN 5 118,900,894 (GRCm39) missense probably damaging 0.99
IGL02801:Med13l APN 5 118,883,178 (GRCm39) missense probably damaging 1.00
IGL03242:Med13l APN 5 118,885,510 (GRCm39) missense probably benign
IGL03270:Med13l APN 5 118,869,495 (GRCm39) missense probably damaging 1.00
Basics UTSW 5 118,897,329 (GRCm39) critical splice donor site probably null
firmament UTSW 5 118,883,071 (GRCm39) splice site probably null
Fundament UTSW 5 118,859,539 (GRCm39) missense probably damaging 1.00
Root UTSW 5 118,731,510 (GRCm39) missense probably damaging 1.00
P0035:Med13l UTSW 5 118,880,685 (GRCm39) missense probably benign 0.00
R0051:Med13l UTSW 5 118,880,720 (GRCm39) missense probably damaging 1.00
R0051:Med13l UTSW 5 118,880,720 (GRCm39) missense probably damaging 1.00
R0136:Med13l UTSW 5 118,862,115 (GRCm39) missense probably benign 0.15
R0158:Med13l UTSW 5 118,880,514 (GRCm39) missense unknown
R0197:Med13l UTSW 5 118,809,067 (GRCm39) splice site probably benign
R0370:Med13l UTSW 5 118,879,891 (GRCm39) missense probably benign 0.14
R0492:Med13l UTSW 5 118,876,560 (GRCm39) missense probably damaging 1.00
R0532:Med13l UTSW 5 118,897,188 (GRCm39) missense possibly damaging 0.78
R0726:Med13l UTSW 5 118,886,749 (GRCm39) missense probably damaging 0.99
R0738:Med13l UTSW 5 118,889,698 (GRCm39) missense probably damaging 0.99
R0827:Med13l UTSW 5 118,864,312 (GRCm39) splice site probably benign
R0883:Med13l UTSW 5 118,809,067 (GRCm39) splice site probably benign
R0959:Med13l UTSW 5 118,892,350 (GRCm39) missense possibly damaging 0.89
R1458:Med13l UTSW 5 118,876,524 (GRCm39) missense probably benign 0.00
R1562:Med13l UTSW 5 118,876,584 (GRCm39) missense probably damaging 1.00
R1577:Med13l UTSW 5 118,859,457 (GRCm39) missense probably damaging 1.00
R1661:Med13l UTSW 5 118,887,813 (GRCm39) missense probably damaging 1.00
R1665:Med13l UTSW 5 118,887,813 (GRCm39) missense probably damaging 1.00
R1720:Med13l UTSW 5 118,880,060 (GRCm39) missense probably damaging 1.00
R1929:Med13l UTSW 5 118,866,898 (GRCm39) missense probably benign 0.01
R1967:Med13l UTSW 5 118,899,387 (GRCm39) missense probably damaging 0.99
R2301:Med13l UTSW 5 118,731,512 (GRCm39) missense probably damaging 1.00
R3691:Med13l UTSW 5 118,859,562 (GRCm39) missense probably benign 0.16
R3895:Med13l UTSW 5 118,899,388 (GRCm39) missense probably null 0.99
R4043:Med13l UTSW 5 118,731,528 (GRCm39) missense probably damaging 1.00
R4593:Med13l UTSW 5 118,880,625 (GRCm39) missense probably damaging 1.00
R4902:Med13l UTSW 5 118,883,195 (GRCm39) missense probably damaging 1.00
R4995:Med13l UTSW 5 118,869,014 (GRCm39) missense possibly damaging 0.90
R5010:Med13l UTSW 5 118,731,615 (GRCm39) missense possibly damaging 0.95
R5057:Med13l UTSW 5 118,856,558 (GRCm39) missense probably damaging 1.00
R5369:Med13l UTSW 5 118,862,075 (GRCm39) missense probably benign 0.02
R5446:Med13l UTSW 5 118,880,462 (GRCm39) missense possibly damaging 0.81
R5564:Med13l UTSW 5 118,880,105 (GRCm39) missense probably damaging 1.00
R5566:Med13l UTSW 5 118,866,730 (GRCm39) missense possibly damaging 0.95
R5580:Med13l UTSW 5 118,889,695 (GRCm39) missense possibly damaging 0.95
R5634:Med13l UTSW 5 118,698,915 (GRCm39) missense possibly damaging 0.88
R5748:Med13l UTSW 5 118,731,510 (GRCm39) missense probably damaging 1.00
R5764:Med13l UTSW 5 118,866,707 (GRCm39) missense probably damaging 0.99
R5765:Med13l UTSW 5 118,866,707 (GRCm39) missense probably damaging 0.99
R6083:Med13l UTSW 5 118,859,551 (GRCm39) missense possibly damaging 0.80
R6504:Med13l UTSW 5 118,892,386 (GRCm39) missense probably benign 0.34
R6546:Med13l UTSW 5 118,859,539 (GRCm39) missense probably damaging 1.00
R6797:Med13l UTSW 5 118,897,329 (GRCm39) critical splice donor site probably null
R6911:Med13l UTSW 5 118,893,723 (GRCm39) missense possibly damaging 0.95
R6942:Med13l UTSW 5 118,883,071 (GRCm39) splice site probably null
R7018:Med13l UTSW 5 118,890,051 (GRCm39) missense probably damaging 0.99
R7096:Med13l UTSW 5 118,859,991 (GRCm39) missense possibly damaging 0.90
R7113:Med13l UTSW 5 118,864,330 (GRCm39) missense probably benign 0.09
R7136:Med13l UTSW 5 118,859,587 (GRCm39) missense possibly damaging 0.90
R7140:Med13l UTSW 5 118,880,037 (GRCm39) missense probably benign 0.27
R7345:Med13l UTSW 5 118,880,825 (GRCm39) missense probably damaging 1.00
R7409:Med13l UTSW 5 118,892,386 (GRCm39) missense probably benign 0.34
R7410:Med13l UTSW 5 118,698,897 (GRCm39) missense possibly damaging 0.94
R7432:Med13l UTSW 5 118,890,003 (GRCm39) missense probably damaging 0.99
R7486:Med13l UTSW 5 118,866,539 (GRCm39) missense probably benign 0.17
R7509:Med13l UTSW 5 118,886,995 (GRCm39) missense probably damaging 0.97
R7722:Med13l UTSW 5 118,885,472 (GRCm39) missense probably benign 0.32
R7802:Med13l UTSW 5 118,866,655 (GRCm39) missense probably benign 0.03
R8081:Med13l UTSW 5 118,866,333 (GRCm39) missense probably damaging 1.00
R8260:Med13l UTSW 5 118,886,794 (GRCm39) missense possibly damaging 0.95
R8266:Med13l UTSW 5 118,880,174 (GRCm39) missense probably damaging 1.00
R8347:Med13l UTSW 5 118,880,662 (GRCm39) missense probably benign
R8365:Med13l UTSW 5 118,866,709 (GRCm39) missense possibly damaging 0.81
R8508:Med13l UTSW 5 118,892,386 (GRCm39) missense probably benign 0.34
R8920:Med13l UTSW 5 118,885,543 (GRCm39) nonsense probably null
R8970:Med13l UTSW 5 118,883,164 (GRCm39) missense probably damaging 1.00
R8994:Med13l UTSW 5 118,866,226 (GRCm39) missense possibly damaging 0.78
R9045:Med13l UTSW 5 118,880,816 (GRCm39) missense probably benign
R9401:Med13l UTSW 5 118,883,089 (GRCm39) missense probably benign 0.14
R9446:Med13l UTSW 5 118,876,567 (GRCm39) missense probably benign 0.11
R9714:Med13l UTSW 5 118,866,438 (GRCm39) missense probably benign 0.44
R9777:Med13l UTSW 5 118,887,024 (GRCm39) missense probably benign
R9781:Med13l UTSW 5 118,868,032 (GRCm39) missense possibly damaging 0.60
R9797:Med13l UTSW 5 118,880,144 (GRCm39) missense probably damaging 1.00
X0065:Med13l UTSW 5 118,867,948 (GRCm39) missense probably damaging 1.00
Z1088:Med13l UTSW 5 118,887,706 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGCTTGCTTTCCAGGAGAG -3'
(R):5'- TTGGCAGATGTCACATCAACAAC -3'

Sequencing Primer
(F):5'- GCTTTCCAGGAGAGAGCGG -3'
(R):5'- ATCAGGTAAAGCAATGTTCTGC -3'
Posted On 2022-06-15