Incidental Mutation 'R7509:Med13l'
ID 581947
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 045582-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7509 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118698744-118903503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118886995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1632 (D1632G)
Ref Sequence ENSEMBL: ENSMUSP00000098379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100816] [ENSMUST00000201010]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000100816
AA Change: D1632G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: D1632G

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 damaging
Transcript: ENSMUST00000201010
AA Change: D1632G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: D1632G

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A G 7: 119,133,611 (GRCm39) S259G probably benign Het
Adamts16 G T 13: 70,935,283 (GRCm39) N436K probably damaging Het
Asb3 T A 11: 30,948,507 (GRCm39) M61K probably benign Het
Catspere2 A G 1: 177,905,078 (GRCm39) T163A possibly damaging Het
Ccser2 A G 14: 36,660,602 (GRCm39) L517P probably damaging Het
Cd226 A G 18: 89,265,195 (GRCm39) T158A probably benign Het
Chd6 A T 2: 160,855,074 (GRCm39) I778N probably damaging Het
Cnga4 T C 7: 105,056,097 (GRCm39) V336A probably benign Het
Cpd C T 11: 76,688,702 (GRCm39) V857I probably benign Het
Cpm A G 10: 117,495,745 (GRCm39) Y78C probably damaging Het
Cst7 A T 2: 150,419,624 (GRCm39) T97S probably benign Het
Cttnbp2nl T C 3: 104,940,046 (GRCm39) K8E possibly damaging Het
Erbb4 A T 1: 68,289,739 (GRCm39) D767E possibly damaging Het
Esyt2 T C 12: 116,329,496 (GRCm39) S685P probably damaging Het
Fam110d A C 4: 133,979,424 (GRCm39) V18G probably damaging Het
Gcfc2 T C 6: 81,930,256 (GRCm39) L641P probably damaging Het
Gcnt4 T A 13: 97,083,678 (GRCm39) F325I probably benign Het
Glg1 T G 8: 111,985,675 (GRCm39) S52R probably benign Het
Gm10577 G A 4: 100,877,848 (GRCm39) L16F unknown Het
Gm14326 C T 2: 177,587,493 (GRCm39) G501D probably benign Het
Gm1587 G A 14: 78,034,464 (GRCm39) P35S unknown Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Helb T A 10: 119,925,719 (GRCm39) H886L probably damaging Het
Hgsnat A G 8: 26,445,754 (GRCm39) V380A probably damaging Het
Hmbs T A 9: 44,248,208 (GRCm39) R125S Het
Hsd17b4 A T 18: 50,297,749 (GRCm39) Y346F probably damaging Het
Inpp4a T C 1: 37,426,911 (GRCm39) L624P probably damaging Het
Irak2 AC ACC 6: 113,667,859 (GRCm39) probably null Het
Itga11 C T 9: 62,689,222 (GRCm39) T1129I probably benign Het
Itih4 G A 14: 30,617,404 (GRCm39) V575I probably benign Het
Kcnn2 A G 18: 45,816,187 (GRCm39) T473A probably benign Het
Kidins220 T C 12: 25,032,360 (GRCm39) V31A probably damaging Het
Lrch1 G A 14: 75,185,048 (GRCm39) T18I probably benign Het
Ly6e T C 15: 74,830,135 (GRCm39) F30L probably damaging Het
Mei4 T A 9: 81,907,630 (GRCm39) L320Q probably damaging Het
Mlip T G 9: 77,088,678 (GRCm39) T197P probably damaging Het
Mon2 G A 10: 122,868,457 (GRCm39) A532V probably benign Het
Myh1 C T 11: 67,101,287 (GRCm39) P688S probably benign Het
Ncapg G A 5: 45,853,450 (GRCm39) D900N probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Ntn4 A G 10: 93,546,430 (GRCm39) N361S probably benign Het
Nudt16l1 T A 16: 4,757,082 (GRCm39) H26Q probably damaging Het
Obscn G A 11: 58,942,455 (GRCm39) T4348I probably benign Het
Or10d4b T A 9: 39,534,623 (GRCm39) I66N probably damaging Het
Or8c20 T A 9: 38,260,868 (GRCm39) M157K probably benign Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pcdhb7 C A 18: 37,475,074 (GRCm39) T70K possibly damaging Het
Pcdhga3 T A 18: 37,808,910 (GRCm39) Y454* probably null Het
Pigc A T 1: 161,798,545 (GRCm39) T176S probably benign Het
Pola2 A T 19: 6,011,194 (GRCm39) S43R probably benign Het
Pole A T 5: 110,478,571 (GRCm39) probably benign Het
Polq C A 16: 36,880,705 (GRCm39) D956E probably benign Het
Polq T A 16: 36,880,706 (GRCm39) C957S probably benign Het
Ppp3cc G A 14: 70,504,131 (GRCm39) T107I probably damaging Het
Prss39 C A 1: 34,539,280 (GRCm39) H173Q possibly damaging Het
Reep4 A G 14: 70,785,928 (GRCm39) D256G probably benign Het
Rfc3 A G 5: 151,570,975 (GRCm39) V107A probably damaging Het
Slc19a3 A G 1: 83,003,981 (GRCm39) L40P probably damaging Het
Slc29a4 C T 5: 142,704,261 (GRCm39) P305L probably benign Het
Strada C A 11: 106,077,920 (GRCm39) V15F unknown Het
Suco A T 1: 161,672,903 (GRCm39) S440T probably damaging Het
Svep1 A T 4: 58,090,683 (GRCm39) C1595S probably benign Het
Synpo G T 18: 60,736,566 (GRCm39) T460K probably damaging Het
Tagap A T 17: 8,147,568 (GRCm39) I93F probably damaging Het
Tmtc3 A T 10: 100,301,956 (GRCm39) F331Y probably damaging Het
Tnpo1 A C 13: 99,006,751 (GRCm39) I225M probably benign Het
Tollip A T 7: 141,445,878 (GRCm39) M70K probably benign Het
Trpm7 A T 2: 126,691,842 (GRCm39) I171N probably damaging Het
Ttc41 G T 10: 86,549,296 (GRCm39) E163D probably damaging Het
Vmn2r17 A T 5: 109,575,695 (GRCm39) T189S probably benign Het
Vmn2r20 C T 6: 123,362,382 (GRCm39) V801I probably benign Het
Vmn2r82 G A 10: 79,231,842 (GRCm39) V614I possibly damaging Het
Vmn2r96 G A 17: 18,802,995 (GRCm39) E302K probably benign Het
Vwf T C 6: 125,619,132 (GRCm39) F1270S Het
Wdr3 A T 3: 100,058,503 (GRCm39) F367L probably benign Het
Zfp592 A G 7: 80,688,088 (GRCm39) S1005G 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
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'- CAACAAGTAGTTCATCTGCCTCC -3'
(R):5'- AGCACGCTGATTGACTCTCTC -3'

Sequencing Primer
(F):5'- AAGTAGTTCATCTGCCTCCTCTGG -3'
(R):5'- TCTCTTAACAGGCCCTCGGAG -3'
Posted On 2019-10-17