Incidental Mutation 'R9777:Med13l'
ID 733767
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R9777 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 118698744-118903503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118887024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1642 (S1642P)
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: S1642P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: S1642P

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: S1642P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: S1642P

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency
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
Adgb A C 10: 10,283,214 (GRCm39) M164R possibly damaging Het
Alg10b T A 15: 90,111,656 (GRCm39) C167S probably benign Het
Ap2m1 C A 16: 20,358,113 (GRCm39) R44S probably damaging Het
Atrip T C 9: 108,902,964 (GRCm39) S37G probably benign Het
Bicra C T 7: 15,705,987 (GRCm39) V1485M probably benign Het
Brca2 C T 5: 150,480,579 (GRCm39) T2755I probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Ccdc7a C T 8: 129,618,860 (GRCm39) A895T possibly damaging Het
Cep290 T C 10: 100,354,529 (GRCm39) M871T probably benign Het
Col19a1 A G 1: 24,318,904 (GRCm39) V1062A unknown Het
Col24a1 T A 3: 145,021,103 (GRCm39) Y491* probably null Het
Cyp2c66 A T 19: 39,102,520 (GRCm39) I50F probably benign Het
Dbn1 C A 13: 55,625,639 (GRCm39) R261L probably benign Het
Dlat G A 9: 50,562,208 (GRCm39) A272V probably damaging Het
Dlgap3 A T 4: 127,130,127 (GRCm39) E967V possibly damaging Het
Dnhd1 A G 7: 105,369,456 (GRCm39) M4360V probably benign Het
Dock7 C T 4: 98,877,464 (GRCm39) R1058Q unknown Het
Dpp4 T A 2: 62,195,340 (GRCm39) I313F probably benign Het
Dus1l C T 11: 120,683,858 (GRCm39) V197I possibly damaging Het
Eef2k TATTCATTCATTCATTCATTCATTCATTCA TATTCATTCATTCATTCATTCATTCA 7: 120,499,453 (GRCm39) probably benign Het
Fat3 A G 9: 15,826,537 (GRCm39) S324P probably benign Het
Fkbp9 C T 6: 56,855,181 (GRCm39) H567Y possibly damaging Het
Galnt10 C A 11: 57,672,065 (GRCm39) P452T probably damaging Het
Glb1 A T 9: 114,246,084 (GRCm39) D45V probably damaging Het
Grm1 A T 10: 10,573,826 (GRCm39) V904E possibly damaging Het
Gsdma3 T G 11: 98,526,071 (GRCm39) V274G probably damaging Het
Gsn A G 2: 35,194,600 (GRCm39) E681G probably damaging Het
Hpdl A G 4: 116,678,062 (GRCm39) L133P probably damaging Het
Ighv1-75 A G 12: 115,797,655 (GRCm39) L89P probably damaging Het
Igsf21 T A 4: 139,755,407 (GRCm39) Q416L probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Ildr1 A G 16: 36,528,659 (GRCm39) T35A probably benign Het
Ints13 G T 6: 146,463,326 (GRCm39) H235Q probably damaging Het
Lama4 C T 10: 38,924,101 (GRCm39) T503I probably benign Het
Mapk13 T A 17: 28,997,075 (GRCm39) L289Q probably damaging Het
Megf6 T A 4: 154,343,617 (GRCm39) S713R probably damaging Het
Mical3 A G 6: 120,959,529 (GRCm39) V922A possibly damaging Het
Mug1 C T 6: 121,857,864 (GRCm39) T1119M probably damaging Het
Myo18a T A 11: 77,733,080 (GRCm39) M1370K possibly damaging Het
Ndufa12 A G 10: 94,056,692 (GRCm39) E140G probably damaging Het
Nek4 T A 14: 30,706,401 (GRCm39) D696E probably benign Het
Oas1f A G 5: 120,994,429 (GRCm39) T317A probably benign Het
Or14c39 T C 7: 86,343,988 (GRCm39) V108A probably benign Het
Or2r11 A G 6: 42,437,029 (GRCm39) I308T probably benign Het
Or6c210 T C 10: 129,495,705 (GRCm39) I10T probably benign Het
Pcdh17 C T 14: 84,683,683 (GRCm39) P50L probably benign Het
Pgs1 A G 11: 117,894,256 (GRCm39) E261G probably benign Het
Pira12 T G 7: 3,897,612 (GRCm39) R494S probably damaging Het
Ppp1r1a T C 15: 103,439,857 (GRCm39) E145G possibly damaging Het
Ppp1r37 T C 7: 19,295,783 (GRCm39) E58G probably benign Het
Ptprc A T 1: 138,047,901 (GRCm39) V77E Het
Rhag A G 17: 41,139,416 (GRCm39) E117G probably benign Het
Sh3d19 C T 3: 86,028,483 (GRCm39) S653L probably benign Het
Sirpd C A 3: 15,385,813 (GRCm39) E30* probably null Het
Slc35a5 C T 16: 44,972,939 (GRCm39) probably null Het
Smc4 C T 3: 68,929,655 (GRCm39) R510* probably null Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sp140 A G 1: 85,569,461 (GRCm39) N357S probably damaging Het
Spic T A 10: 88,514,421 (GRCm39) T60S possibly damaging Het
Steap1 C A 5: 5,786,517 (GRCm39) A307S probably benign Het
Stk3 A T 15: 35,114,791 (GRCm39) S40R probably damaging Het
Taar1 T C 10: 23,796,676 (GRCm39) C125R probably damaging Het
Tep1 T A 14: 51,076,443 (GRCm39) K1664* probably null Het
Tmem198b C A 10: 128,638,273 (GRCm39) V97L possibly damaging Het
Xirp2 C A 2: 67,347,379 (GRCm39) P3207T possibly damaging Het
Zbtb38 C G 9: 96,570,355 (GRCm39) S243T possibly damaging Het
Zbtb38 T A 9: 96,570,356 (GRCm39) S243C probably damaging Het
Zfp692 C T 11: 58,199,638 (GRCm39) R76W probably benign Het
Zwilch A T 9: 64,054,170 (GRCm39) L509H 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
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
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'- GGCAGTGCATTCAATCCCAC -3'
(R):5'- GCACGCTGATTGACTCTCTC -3'

Sequencing Primer
(F):5'- AACAAGTAGTTCATCTGCCTCC -3'
(R):5'- TCTCTTAACAGGCCCTCGGAG -3'
Posted On 2022-11-14