Incidental Mutation 'R0206:Med1'
ID 66389
Institutional Source Beutler Lab
Gene Symbol Med1
Ensembl Gene ENSMUSG00000018160
Gene Name mediator complex subunit 1
Synonyms DRIP205, TRAP220, PBP, Pparbp, CRSP210, l11Jus15, TRAP 220
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0206 (G1)
Quality Score 118
Status Not validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 98046515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]
AlphaFold Q925J9
Predicted Effect unknown
Transcript: ENSMUST00000018304
AA Change: I1412T
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: I1412T

DomainStartEndE-ValueType
Pfam:Med1 18 414 3.7e-112 PFAM
low complexity region 536 559 N/A INTRINSIC
low complexity region 595 619 N/A INTRINSIC
low complexity region 667 678 N/A INTRINSIC
low complexity region 960 981 N/A INTRINSIC
low complexity region 989 999 N/A INTRINSIC
low complexity region 1015 1036 N/A INTRINSIC
low complexity region 1042 1054 N/A INTRINSIC
low complexity region 1063 1138 N/A INTRINSIC
low complexity region 1170 1183 N/A INTRINSIC
low complexity region 1205 1243 N/A INTRINSIC
low complexity region 1250 1281 N/A INTRINSIC
low complexity region 1344 1364 N/A INTRINSIC
low complexity region 1482 1503 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092735
SMART Domains Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160

DomainStartEndE-ValueType
Pfam:Med1 33 429 1.2e-113 PFAM
transmembrane domain 585 607 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000107545
AA Change: I1427T
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: I1427T

DomainStartEndE-ValueType
Pfam:Med1 59 426 2.9e-74 PFAM
low complexity region 551 574 N/A INTRINSIC
low complexity region 610 634 N/A INTRINSIC
low complexity region 682 693 N/A INTRINSIC
low complexity region 975 996 N/A INTRINSIC
low complexity region 1004 1014 N/A INTRINSIC
low complexity region 1030 1051 N/A INTRINSIC
low complexity region 1057 1069 N/A INTRINSIC
low complexity region 1078 1153 N/A INTRINSIC
low complexity region 1185 1198 N/A INTRINSIC
low complexity region 1220 1258 N/A INTRINSIC
low complexity region 1265 1296 N/A INTRINSIC
low complexity region 1359 1379 N/A INTRINSIC
low complexity region 1497 1518 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147933
Meta Mutation Damage Score 0.0730 question?
Coding Region Coverage
  • 1x: 95.8%
  • 3x: 87.0%
  • 10x: 38.5%
  • 20x: 5.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Gm20441 A G 10: 75,608,719 (GRCm39) M1T probably null Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S probably damaging Het
Other mutations in Med1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Med1 APN 11 98,046,510 (GRCm39) intron probably benign
IGL00690:Med1 APN 11 98,060,226 (GRCm39) missense possibly damaging 0.94
IGL01087:Med1 APN 11 98,071,111 (GRCm39) missense probably damaging 1.00
IGL01133:Med1 APN 11 98,048,812 (GRCm39) nonsense probably null
IGL02223:Med1 APN 11 98,048,702 (GRCm39) missense probably damaging 1.00
IGL02257:Med1 APN 11 98,071,096 (GRCm39) missense probably damaging 0.98
IGL02699:Med1 APN 11 98,070,851 (GRCm39) missense possibly damaging 0.61
IGL02706:Med1 APN 11 98,047,533 (GRCm39) intron probably benign
IGL02902:Med1 APN 11 98,047,335 (GRCm39) intron probably benign
IGL02986:Med1 APN 11 98,047,086 (GRCm39) intron probably benign
IGL03011:Med1 APN 11 98,051,859 (GRCm39) missense possibly damaging 0.92
IGL03282:Med1 APN 11 98,047,643 (GRCm39) missense probably damaging 1.00
IGL03303:Med1 APN 11 98,049,178 (GRCm39) missense probably damaging 1.00
IGL03342:Med1 APN 11 98,080,006 (GRCm39) critical splice donor site probably null
IGL03410:Med1 APN 11 98,080,009 (GRCm39) missense possibly damaging 0.62
PIT4453001:Med1 UTSW 11 98,049,243 (GRCm39) missense probably benign 0.40
R0040:Med1 UTSW 11 98,057,081 (GRCm39) critical splice donor site probably null
R0206:Med1 UTSW 11 98,046,515 (GRCm39) intron probably benign
R0208:Med1 UTSW 11 98,046,515 (GRCm39) intron probably benign
R0310:Med1 UTSW 11 98,058,400 (GRCm39) missense probably benign 0.38
R0505:Med1 UTSW 11 98,047,730 (GRCm39) missense probably damaging 1.00
R0597:Med1 UTSW 11 98,060,264 (GRCm39) missense probably benign 0.08
R0680:Med1 UTSW 11 98,070,992 (GRCm39) splice site probably null
R0686:Med1 UTSW 11 98,049,230 (GRCm39) missense probably damaging 1.00
R0698:Med1 UTSW 11 98,046,515 (GRCm39) intron probably benign
R1293:Med1 UTSW 11 98,047,862 (GRCm39) missense possibly damaging 0.93
R1302:Med1 UTSW 11 98,048,275 (GRCm39) missense possibly damaging 0.50
R1365:Med1 UTSW 11 98,046,821 (GRCm39) intron probably benign
R1537:Med1 UTSW 11 98,051,772 (GRCm39) missense probably damaging 0.97
R1609:Med1 UTSW 11 98,051,996 (GRCm39) missense possibly damaging 0.91
R1631:Med1 UTSW 11 98,046,452 (GRCm39) intron probably benign
R1792:Med1 UTSW 11 98,048,109 (GRCm39) missense probably damaging 1.00
R1831:Med1 UTSW 11 98,047,437 (GRCm39) intron probably benign
R1837:Med1 UTSW 11 98,060,238 (GRCm39) missense probably damaging 1.00
R2366:Med1 UTSW 11 98,052,008 (GRCm39) missense probably damaging 0.98
R3754:Med1 UTSW 11 98,057,548 (GRCm39) missense possibly damaging 0.77
R3762:Med1 UTSW 11 98,046,341 (GRCm39) intron probably benign
R4012:Med1 UTSW 11 98,062,532 (GRCm39) missense possibly damaging 0.85
R4112:Med1 UTSW 11 98,070,913 (GRCm39) missense probably damaging 1.00
R4384:Med1 UTSW 11 98,043,688 (GRCm39) unclassified probably benign
R4579:Med1 UTSW 11 98,049,248 (GRCm39) missense possibly damaging 0.56
R4740:Med1 UTSW 11 98,071,090 (GRCm39) nonsense probably null
R4819:Med1 UTSW 11 98,046,258 (GRCm39) intron probably benign
R4879:Med1 UTSW 11 98,046,186 (GRCm39) unclassified probably benign
R4993:Med1 UTSW 11 98,054,730 (GRCm39) missense probably damaging 1.00
R5040:Med1 UTSW 11 98,046,230 (GRCm39) intron probably benign
R5249:Med1 UTSW 11 98,048,066 (GRCm39) missense probably benign 0.43
R5373:Med1 UTSW 11 98,054,789 (GRCm39) missense probably damaging 0.99
R5374:Med1 UTSW 11 98,054,789 (GRCm39) missense probably damaging 0.99
R5552:Med1 UTSW 11 98,057,157 (GRCm39) nonsense probably null
R5692:Med1 UTSW 11 98,047,206 (GRCm39) intron probably benign
R6010:Med1 UTSW 11 98,049,188 (GRCm39) missense probably damaging 1.00
R6149:Med1 UTSW 11 98,074,679 (GRCm39) missense possibly damaging 0.74
R6417:Med1 UTSW 11 98,048,054 (GRCm39) missense probably damaging 0.97
R7301:Med1 UTSW 11 98,043,634 (GRCm39) missense probably benign 0.23
R7507:Med1 UTSW 11 98,048,852 (GRCm39) missense probably damaging 1.00
R7529:Med1 UTSW 11 98,046,791 (GRCm39) missense unknown
R7588:Med1 UTSW 11 98,046,398 (GRCm39) missense unknown
R7654:Med1 UTSW 11 98,060,189 (GRCm39) missense possibly damaging 0.75
R7662:Med1 UTSW 11 98,046,218 (GRCm39) missense unknown
R7679:Med1 UTSW 11 98,046,887 (GRCm39) missense unknown
R7862:Med1 UTSW 11 98,052,036 (GRCm39) missense probably benign 0.05
R8447:Med1 UTSW 11 98,060,240 (GRCm39) missense probably damaging 1.00
R8693:Med1 UTSW 11 98,046,599 (GRCm39) missense unknown
R8843:Med1 UTSW 11 98,080,102 (GRCm39) missense possibly damaging 0.88
R9072:Med1 UTSW 11 98,080,009 (GRCm39) missense possibly damaging 0.62
R9284:Med1 UTSW 11 98,046,366 (GRCm39) missense unknown
R9428:Med1 UTSW 11 98,080,049 (GRCm39) nonsense probably null
R9465:Med1 UTSW 11 98,049,144 (GRCm39) missense probably benign 0.08
R9531:Med1 UTSW 11 98,048,321 (GRCm39) missense probably damaging 0.96
R9537:Med1 UTSW 11 98,062,586 (GRCm39) missense possibly damaging 0.74
R9548:Med1 UTSW 11 98,070,884 (GRCm39) missense possibly damaging 0.95
R9680:Med1 UTSW 11 98,071,114 (GRCm39) missense probably damaging 0.99
R9696:Med1 UTSW 11 98,061,772 (GRCm39) critical splice donor site probably null
Z1176:Med1 UTSW 11 98,052,009 (GRCm39) missense possibly damaging 0.62
Predicted Primers
Posted On 2013-08-19