Incidental Mutation 'R7140:Med13l'
ID 553390
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 # R7140 (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 C at 118880037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1043 (V1043A)
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: V1043A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: V1043A

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: V1043A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: V1043A

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
Meta Mutation Damage Score 0.0676 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,610,929 (GRCm39) probably null Het
Ap2a2 G A 7: 141,178,777 (GRCm39) A148T probably benign Het
Arhgef3 A T 14: 27,123,664 (GRCm39) N442Y probably damaging Het
B3gat3 A G 19: 8,903,216 (GRCm39) Y191C probably damaging Het
B430306N03Rik A T 17: 48,629,483 (GRCm39) K203* probably null Het
C1qtnf6 T A 15: 78,409,283 (GRCm39) Y188F probably benign Het
Capn10 T C 1: 92,872,993 (GRCm39) V573A possibly damaging Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ccdc43 G T 11: 102,579,695 (GRCm39) probably null Het
Ccng2 C A 5: 93,416,614 (GRCm39) P45Q probably benign Het
Cd86 T C 16: 36,441,263 (GRCm39) H68R probably benign Het
Cmtm4 A G 8: 105,081,827 (GRCm39) Y187H probably damaging Het
Cst11 T C 2: 148,610,649 (GRCm39) N134S probably benign Het
Cyp3a25 A T 5: 145,939,855 (GRCm39) F51I probably benign Het
Dnhd1 A G 7: 105,342,973 (GRCm39) E1439G probably benign Het
Dock4 T C 12: 40,686,158 (GRCm39) V131A probably benign Het
Dpysl2 A G 14: 67,099,982 (GRCm39) S85P probably benign Het
Dync1i2 A G 2: 71,078,283 (GRCm39) H324R probably benign Het
Elf1 A G 14: 79,804,710 (GRCm39) D162G probably benign Het
Eri3 G A 4: 117,506,604 (GRCm39) probably null Het
Fbxl21 T C 13: 56,680,145 (GRCm39) S203P probably damaging Het
Foxi1 G A 11: 34,155,758 (GRCm39) R291C probably damaging Het
Gprin3 C T 6: 59,332,128 (GRCm39) A60T possibly damaging Het
Hecw1 A G 13: 14,491,118 (GRCm39) C212R probably benign Het
Hivep3 T C 4: 119,954,318 (GRCm39) L878P probably damaging Het
Hs6st3 A T 14: 119,376,514 (GRCm39) N230Y probably damaging Het
Htr3b A G 9: 48,848,441 (GRCm39) V268A possibly damaging Het
Ip6k3 T C 17: 27,363,969 (GRCm39) T360A probably damaging Het
Izumo1 A G 7: 45,275,536 (GRCm39) T282A probably benign Het
Kidins220 T A 12: 25,086,623 (GRCm39) I1019N probably damaging Het
Mon2 C T 10: 122,871,358 (GRCm39) V420I probably benign Het
Naip6 T A 13: 100,436,708 (GRCm39) Y605F possibly damaging Het
Nek7 A G 1: 138,414,793 (GRCm39) I285T probably benign Het
Notch3 A G 17: 32,375,351 (GRCm39) V357A possibly damaging Het
Nrxn1 G A 17: 91,396,192 (GRCm39) probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or2w4 C T 13: 21,795,297 (GRCm39) V281M possibly damaging Het
Or4a67 G A 2: 88,598,308 (GRCm39) A117V probably damaging Het
Or5g9 T A 2: 85,551,818 (GRCm39) L23Q probably damaging Het
Or6c74 T G 10: 129,870,083 (GRCm39) M196R possibly damaging Het
Ostm1 C T 10: 42,559,268 (GRCm39) A176V probably null Het
Pabpc6 C A 17: 9,887,357 (GRCm39) S398I possibly damaging Het
Pcdhac2 C A 18: 37,277,239 (GRCm39) P73H possibly damaging Het
Pcdhga9 A G 18: 37,872,184 (GRCm39) D671G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pigu A C 2: 155,143,160 (GRCm39) L248R possibly damaging Het
Pinx1 C A 14: 64,097,834 (GRCm39) probably null Het
Pon3 T C 6: 5,221,664 (GRCm39) N322S possibly damaging Het
Pramel23 T G 4: 143,425,002 (GRCm39) H147P probably benign Het
Rnft1 A G 11: 86,382,586 (GRCm39) I270V probably benign Het
Scgb2b11 A G 7: 31,910,006 (GRCm39) F27L probably damaging Het
Slc5a4b C T 10: 75,910,943 (GRCm39) V298I probably damaging Het
Slco1a6 T A 6: 142,048,745 (GRCm39) H345L probably benign Het
Sox1 C T 8: 12,447,405 (GRCm39) P349S possibly damaging Het
Spata31 A G 13: 65,068,913 (GRCm39) N354D probably benign Het
Speg T C 1: 75,383,414 (GRCm39) probably null Het
Stpg1 T C 4: 135,261,033 (GRCm39) I281T probably benign Het
Sult3a1 T C 10: 33,753,283 (GRCm39) L193P probably damaging Het
Tenm3 A T 8: 48,745,271 (GRCm39) C1097S probably damaging Het
Tfap2a A G 13: 40,883,523 (GRCm39) S7P probably benign Het
Tlr1 T C 5: 65,083,021 (GRCm39) I519V probably benign Het
Tmem238 A G 7: 4,792,072 (GRCm39) V157A possibly damaging Het
Tmem45b A T 9: 31,345,780 (GRCm39) probably null Het
Togaram2 A T 17: 72,021,761 (GRCm39) H742L probably benign Het
Trpc7 A T 13: 56,937,487 (GRCm39) Y656* probably null Het
Wdr35 T A 12: 9,072,785 (GRCm39) Y920N probably damaging Het
Xab2 G A 8: 3,668,117 (GRCm39) R154C possibly damaging Het
Zfp759 A T 13: 67,288,177 (GRCm39) H576L possibly damaging Het
Zfp958 G T 8: 4,678,481 (GRCm39) A169S probably benign 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
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
R9445:Med13l UTSW 5 118,862,214 (GRCm39) missense probably benign 0.00
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'- TATTCAGTGCAGGGCTATGG -3'
(R):5'- TCAGGAATTGGCTGCATGG -3'

Sequencing Primer
(F):5'- TGCAGGGAGCTTCTGTACACTC -3'
(R):5'- TGCATGGTGGCAGGCTC -3'
Posted On 2019-05-15