Incidental Mutation 'R0532:Med13l'
ID 49232
Institutional Source Beutler Lab
Gene Symbol Med13l
Ensembl Gene ENSMUSG00000018076
Gene Name mediator complex subunit 13-like
Synonyms 9030618F05Rik, Trap240L, 6330591G05Rik, Thrap2, 2210413I17Rik
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 118698744-118903503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118897188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2089 (S2089T)
Ref Sequence ENSEMBL: ENSMUSP00000144092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100816] [ENSMUST00000201010]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000100816
AA Change: S2080T

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: S2080T

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 possibly damaging
Transcript: ENSMUST00000201010
AA Change: S2089T

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: S2089T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202787
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Extl3 A T 14: 65,315,122 (GRCm39) M20K probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Rdm1 T A 11: 101,526,661 (GRCm39) C278S probably benign Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Scn4a C T 11: 106,221,226 (GRCm39) G811D probably benign Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Shprh C A 10: 11,038,556 (GRCm39) T437K possibly damaging Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tiam2 A G 17: 3,471,921 (GRCm39) K521R probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null 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
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
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'- ATGCAGTGACACACAGCTCCAG -3'
(R):5'- AGCGTGCATCTACCAACCTTCAG -3'

Sequencing Primer
(F):5'- CAAAACCTTTGTCTGGTCGATAGTG -3'
(R):5'- TCTACCAACCTTCAGGAAGAGTG -3'
Posted On 2013-06-12