Incidental Mutation 'R1792:Med1'
ID 201857
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 039822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98048109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 896 (K896Q)
Ref Sequence ENSEMBL: ENSMUSP00000103169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]
AlphaFold Q925J9
Predicted Effect probably damaging
Transcript: ENSMUST00000018304
AA Change: K881Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: K881Q

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 probably damaging
Transcript: ENSMUST00000107545
AA Change: K896Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: K896Q

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,074,870 (GRCm39) V1398I probably benign Het
Ackr3 A T 1: 90,142,620 (GRCm39) N360Y probably benign Het
Acr T G 15: 89,457,346 (GRCm39) M198R probably benign Het
Adamts14 A T 10: 61,054,277 (GRCm39) M585K probably benign Het
Adgrb3 A T 1: 25,267,552 (GRCm39) C853S probably damaging Het
Arhgef28 G T 13: 98,067,694 (GRCm39) S1410R probably benign Het
Asprv1 T A 6: 86,605,354 (GRCm39) F67I possibly damaging Het
Atp8b4 T A 2: 126,167,214 (GRCm39) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc57 T C 11: 120,788,707 (GRCm39) Q380R possibly damaging Het
Cdc45 A T 16: 18,626,090 (GRCm39) D142E probably benign Het
Cs A T 10: 128,195,948 (GRCm39) N386Y possibly damaging Het
Dsc3 A T 18: 20,120,055 (GRCm39) V201E probably damaging Het
Dusp26 G T 8: 31,581,963 (GRCm39) R19L probably benign Het
Esyt3 C A 9: 99,240,169 (GRCm39) E92* probably null Het
Ext2 T C 2: 93,534,890 (GRCm39) N625D probably damaging Het
Flvcr2 A T 12: 85,793,929 (GRCm39) K102* probably null Het
Fmnl2 T A 2: 52,932,329 (GRCm39) S103T possibly damaging Het
Fmo4 T A 1: 162,621,859 (GRCm39) I451F probably benign Het
Gak A T 5: 108,733,397 (GRCm39) Y47* probably null Het
Gbp10 A T 5: 105,372,166 (GRCm39) L198Q probably damaging Het
Gm11559 T A 11: 99,755,755 (GRCm39) S135T unknown Het
Gm14496 A T 2: 181,637,946 (GRCm39) D340V probably benign Het
Grin2a T C 16: 9,810,259 (GRCm39) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,395,790 (GRCm39) probably null Het
Herc4 T A 10: 63,081,680 (GRCm39) M1K probably null Het
Hirip3 T A 7: 126,461,792 (GRCm39) V29E probably damaging Het
Hs3st5 A G 10: 36,708,720 (GRCm39) D85G probably benign Het
Htt T A 5: 35,064,543 (GRCm39) S2981T probably damaging Het
Iho1 A C 9: 108,282,111 (GRCm39) S526A possibly damaging Het
Il20ra G A 10: 19,635,384 (GRCm39) V542I probably damaging Het
Itgb2l C A 16: 96,226,282 (GRCm39) C603F probably damaging Het
Klhl41 A C 2: 69,501,146 (GRCm39) K202N probably benign Het
Lct G A 1: 128,255,679 (GRCm39) S121F possibly damaging Het
Lhx6 C T 2: 35,977,387 (GRCm39) G355D probably damaging Het
Limk2 A G 11: 3,308,236 (GRCm39) V121A probably benign Het
Muc6 A G 7: 141,214,371 (GRCm39) F2789S probably benign Het
Nemf T A 12: 69,359,343 (GRCm39) Y997F probably damaging Het
Nrap A G 19: 56,367,590 (GRCm39) S296P probably benign Het
Nrxn1 T C 17: 90,896,252 (GRCm39) N961D probably damaging Het
Odad2 T C 18: 7,286,743 (GRCm39) T163A probably benign Het
Or1r1 A C 11: 73,874,673 (GRCm39) S254A probably benign Het
Or6c207 A T 10: 129,105,112 (GRCm39) F27I probably benign Het
Or6y1 T C 1: 174,276,303 (GRCm39) V38A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm39) H247L probably damaging Het
Pkd1l3 T A 8: 110,359,237 (GRCm39) V866E probably damaging Het
Pla2g4e G A 2: 119,998,955 (GRCm39) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm39) V217A possibly damaging Het
Pole4 G A 6: 82,629,720 (GRCm39) P34L unknown Het
Pole4 G T 6: 82,629,721 (GRCm39) P34T unknown Het
Ptchd3 G A 11: 121,732,377 (GRCm39) W422* probably null Het
Rab1b C T 19: 5,150,513 (GRCm39) A167T probably benign Het
Rasal1 T C 5: 120,802,821 (GRCm39) M359T probably benign Het
Rexo4 T C 2: 26,850,248 (GRCm39) N310D probably benign Het
Rgma C T 7: 73,067,585 (GRCm39) T280M probably damaging Het
Rnaset2a A T 17: 8,364,408 (GRCm39) I43N probably damaging Het
Rtcb A T 10: 85,778,446 (GRCm39) V399E probably damaging Het
Scd4 T G 19: 44,326,013 (GRCm39) Y122* probably null Het
Sirt6 T C 10: 81,462,355 (GRCm39) I15V possibly damaging Het
Slamf8 A T 1: 172,415,526 (GRCm39) V104E possibly damaging Het
Slc12a4 A G 8: 106,678,475 (GRCm39) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm39) A207V possibly damaging Het
Slc6a21 T C 7: 44,930,155 (GRCm39) S185P probably benign Het
Smarcc2 A C 10: 128,299,740 (GRCm39) N135T probably damaging Het
Susd6 T C 12: 80,921,065 (GRCm39) S221P probably damaging Het
Syne1 C T 10: 4,990,975 (GRCm39) G8418D probably damaging Het
Tasor2 T C 13: 3,640,559 (GRCm39) K193E possibly damaging Het
Tbc1d7 C T 13: 43,318,853 (GRCm39) V95I probably benign Het
Tcerg1l T C 7: 137,963,595 (GRCm39) D225G probably benign Het
Tfip11 A T 5: 112,477,263 (GRCm39) I82F possibly damaging Het
Tmem41a C T 16: 21,755,731 (GRCm39) G192S probably null Het
Trrap G A 5: 144,790,396 (GRCm39) A3619T possibly damaging Het
Tspoap1 G A 11: 87,656,707 (GRCm39) probably null Het
Wfdc21 T C 11: 83,637,883 (GRCm39) S11P probably benign Het
Zc2hc1b A T 10: 13,044,474 (GRCm39) V63E 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
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
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 PCR Primer
(F):5'- CTGTGGTGCTCCATCAGATC -3'
(R):5'- AGTTCTGGGCATTCTCAGAGTG -3'

Sequencing Primer
(F):5'- TGGTGCTCCATCAGATCTGCAG -3'
(R):5'- ATACACTGATCCAGCTGACCTTATTG -3'
Posted On 2014-06-23