Incidental Mutation 'R7529:Med1'
ID 583210
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 045601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7529 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 98046791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 1335 (T1335R)
Ref Sequence ENSEMBL: ENSMUSP00000103169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]
AlphaFold Q925J9
Predicted Effect unknown
Transcript: ENSMUST00000018304
AA Change: T1320R
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: T1320R

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: T1335R
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: T1335R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T A 7: 127,836,336 (GRCm39) K86* probably null Het
Ablim3 A C 18: 61,955,039 (GRCm39) S317A probably benign Het
Adcy1 T C 11: 7,089,157 (GRCm39) S524P probably damaging Het
Agps C A 2: 75,662,696 (GRCm39) A47E possibly damaging Het
Arhgef15 G T 11: 68,844,848 (GRCm39) R250S probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atoh8 G T 6: 72,200,825 (GRCm39) D288E probably benign Het
B3galt2 A C 1: 143,522,274 (GRCm39) K137Q probably benign Het
Cacna2d4 G A 6: 119,247,727 (GRCm39) V343I probably benign Het
Cage1 T C 13: 38,209,731 (GRCm39) N82S possibly damaging Het
Cep350 A G 1: 155,737,669 (GRCm39) S2725P probably benign Het
Cfap65 T C 1: 74,965,769 (GRCm39) N414D probably damaging Het
Cgnl1 A C 9: 71,539,040 (GRCm39) L1154R probably damaging Het
Cmya5 A T 13: 93,233,942 (GRCm39) M382K probably benign Het
Dchs2 G A 3: 83,261,705 (GRCm39) V2658M possibly damaging Het
Dlgap5 T C 14: 47,653,876 (GRCm39) N51S probably damaging Het
Dnah17 A G 11: 117,940,692 (GRCm39) probably null Het
Dnal1 A G 12: 84,178,117 (GRCm39) I35V probably benign Het
Dtnbp1 A G 13: 45,084,546 (GRCm39) F198S probably damaging Het
Edar A T 10: 58,447,830 (GRCm39) S160T probably benign Het
Enpp3 A T 10: 24,674,072 (GRCm39) N409K probably damaging Het
Ercc6 T A 14: 32,282,686 (GRCm39) C726* probably null Het
Extl2 G A 3: 115,821,055 (GRCm39) V301I possibly damaging Het
G2e3 A G 12: 51,418,387 (GRCm39) Q594R probably damaging Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Galnt17 A G 5: 131,335,218 (GRCm39) V74A probably damaging Het
Ggta1 A G 2: 35,304,256 (GRCm39) W76R probably damaging Het
Gm9772 T A 17: 22,226,140 (GRCm39) D48V probably benign Het
Herpud2 T C 9: 25,020,193 (GRCm39) T388A probably damaging Het
Ighv5-9-1 A G 12: 113,699,954 (GRCm39) S53P possibly damaging Het
Il23r T A 6: 67,467,720 (GRCm39) M16L possibly damaging Het
Ints1 G A 5: 139,753,481 (GRCm39) A717V possibly damaging Het
Itpr2 A T 6: 146,096,096 (GRCm39) L2122Q probably damaging Het
Klrg2 A T 6: 38,607,266 (GRCm39) V248E probably damaging Het
Krtap5-5 A G 7: 141,783,429 (GRCm39) C74R unknown Het
Luzp1 G T 4: 136,268,243 (GRCm39) L155F probably damaging Het
Mcam T C 9: 44,050,192 (GRCm39) V209A probably benign Het
Mroh2b A G 15: 4,978,491 (GRCm39) I1346V probably damaging Het
Mrpl4 C G 9: 20,918,975 (GRCm39) Q201E probably benign Het
Muc21 A T 17: 35,930,123 (GRCm39) S1354R unknown Het
Mylk2 T C 2: 152,757,624 (GRCm39) L326P probably damaging Het
Myot A T 18: 44,479,240 (GRCm39) R326* probably null Het
Nox3 T A 17: 3,722,050 (GRCm39) R288S probably damaging Het
Nox4 A T 7: 87,044,976 (GRCm39) Y572F unknown Het
Or2v2 A G 11: 49,003,686 (GRCm39) L289P probably damaging Het
Or5an10 A G 19: 12,276,086 (GRCm39) S137P probably damaging Het
Pcdhb15 G T 18: 37,607,526 (GRCm39) E253* probably null Het
Plcb2 T C 2: 118,540,715 (GRCm39) H1052R probably damaging Het
Plpp5 A T 8: 26,214,233 (GRCm39) Q250L probably benign Het
Plxna2 T C 1: 194,326,179 (GRCm39) Y38H probably benign Het
Pnpla8 A G 12: 44,329,963 (GRCm39) K172E probably benign Het
Pramel23 T C 4: 143,429,244 (GRCm39) Het
Prl8a9 T A 13: 27,744,511 (GRCm39) D110V probably benign Het
Prrx1 T C 1: 163,081,533 (GRCm39) probably null Het
Prss52 T A 14: 64,347,037 (GRCm39) H70Q probably benign Het
Rcc1 T C 4: 132,061,874 (GRCm39) T300A probably benign Het
Rnf114 T C 2: 167,349,014 (GRCm39) V64A possibly damaging Het
Rnf168 T C 16: 32,117,732 (GRCm39) I431T probably damaging Het
Rnmt A G 18: 68,444,726 (GRCm39) M232V probably benign Het
Rrs1 A C 1: 9,616,417 (GRCm39) Q223H probably benign Het
Scyl3 A T 1: 163,771,438 (GRCm39) L261F probably damaging Het
Slc24a4 A T 12: 102,230,707 (GRCm39) T533S probably benign Het
Slc26a2 A G 18: 61,331,430 (GRCm39) L667P probably damaging Het
Snrnp40 T A 4: 130,278,275 (GRCm39) V260D possibly damaging Het
Snrpa A C 7: 26,888,878 (GRCm39) M174R probably benign Het
Ss18l1 C T 2: 179,699,950 (GRCm39) A270V possibly damaging Het
Stk19 G T 17: 35,043,632 (GRCm39) Q193K probably benign Het
Syne1 T A 10: 5,374,382 (GRCm39) I142L probably damaging Het
Tbx2 T C 11: 85,731,727 (GRCm39) S675P probably benign Het
Tcaf1 A G 6: 42,652,289 (GRCm39) I731T probably damaging Het
Tg G T 15: 66,566,617 (GRCm39) G1222W probably damaging Het
Tsc2 A G 17: 24,816,922 (GRCm39) F1581L probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Wls A T 3: 159,578,644 (GRCm39) N69Y probably benign Het
Wnk2 A G 13: 49,254,457 (GRCm39) F353L possibly damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp64 C T 2: 168,735,992 (GRCm39) G562R probably benign Het
Zfp663 T G 2: 165,194,728 (GRCm39) E497A probably damaging Het
Zfp995 A T 17: 22,099,333 (GRCm39) C300* probably null 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
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
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 PCR Primer
(F):5'- CCGTCGTGCTTGCTGATAATG -3'
(R):5'- TTCAGGGTCAGCATCCTCAG -3'

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