Incidental Mutation 'R9428:Med1'
ID 712752
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 98080049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 31 (R31*)
Ref Sequence ENSEMBL: ENSMUSP00000103169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]
AlphaFold Q925J9
Predicted Effect probably null
Transcript: ENSMUST00000018304
AA Change: R16*
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: R16*

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 null
Transcript: ENSMUST00000092735
AA Change: R31*
SMART Domains Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: R31*

DomainStartEndE-ValueType
Pfam:Med1 33 429 1.2e-113 PFAM
transmembrane domain 585 607 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107545
AA Change: R31*
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: R31*

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Agmo A G 12: 37,455,330 (GRCm39) I281M probably benign Het
Ahdc1 C T 4: 132,791,773 (GRCm39) P1005S possibly damaging Het
Akap12 T A 10: 4,303,409 (GRCm39) V178D probably damaging Het
Arc A G 15: 74,543,063 (GRCm39) S387P probably benign Het
Arhgap11a C T 2: 113,667,279 (GRCm39) V423I probably benign Het
Arhgap44 A G 11: 64,899,168 (GRCm39) S670P probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
C4bp A T 1: 130,581,094 (GRCm39) F138L probably benign Het
Carmil1 A T 13: 24,295,834 (GRCm39) C393* probably null Het
Cblif A G 19: 11,735,102 (GRCm39) T241A probably benign Het
Celsr1 A T 15: 85,815,549 (GRCm39) V1822E possibly damaging Het
Chgb C G 2: 132,635,154 (GRCm39) S365R probably damaging Het
Cnih3 T C 1: 181,180,857 (GRCm39) probably benign Het
Dcaf1 T A 9: 106,735,528 (GRCm39) D825E possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmbt1 A T 7: 130,668,208 (GRCm39) E488V unknown Het
Espnl A G 1: 91,273,595 (GRCm39) Y985C probably damaging Het
Frmpd2 T C 14: 33,272,010 (GRCm39) V1048A probably damaging Het
Fxn A T 19: 24,249,787 (GRCm39) L100Q probably damaging Het
Gapvd1 T A 2: 34,607,318 (GRCm39) D560V probably damaging Het
Gm4924 T A 10: 82,213,490 (GRCm39) H429Q unknown Het
Gpr158 T C 2: 21,787,972 (GRCm39) F538L probably benign Het
Itpr1 T A 6: 108,378,308 (GRCm39) M1278K possibly damaging Het
Ivd T A 2: 118,708,369 (GRCm39) V361E probably damaging Het
Kcnh6 T C 11: 105,899,821 (GRCm39) L30P probably damaging Het
Lipo4 C T 19: 33,495,074 (GRCm39) V35I probably benign Het
Lmo7 A G 14: 102,155,076 (GRCm39) D1200G probably damaging Het
Mill2 A T 7: 18,573,950 (GRCm39) R12* probably null Het
Mphosph8 A G 14: 56,934,114 (GRCm39) probably null Het
Mtfr2 T A 10: 20,233,039 (GRCm39) S203T possibly damaging Het
Muc5ac A C 7: 141,362,559 (GRCm39) T1957P unknown Het
Mxi1 C A 19: 53,299,213 (GRCm39) P28Q probably benign Het
Mycbpap T C 11: 94,393,995 (GRCm39) D367G probably damaging Het
Nav3 T C 10: 109,605,176 (GRCm39) T966A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Ndst2 A T 14: 20,775,470 (GRCm39) F673L possibly damaging Het
Ndst3 T A 3: 123,340,518 (GRCm39) I767F probably benign Het
Nell1 A T 7: 50,503,683 (GRCm39) D696V probably damaging Het
Nol9 A T 4: 152,124,109 (GRCm39) T100S probably benign Het
Nr4a1 T C 15: 101,168,245 (GRCm39) S94P probably damaging Het
Nrdc T C 4: 108,858,121 (GRCm39) I31T probably damaging Het
Oas2 T A 5: 120,887,576 (GRCm39) D88V probably damaging Het
Or8w1 T C 2: 87,465,774 (GRCm39) I106V probably benign Het
Pex6 A G 17: 47,022,991 (GRCm39) H189R probably benign Het
Pgap1 A G 1: 54,575,206 (GRCm39) S239P probably damaging Het
Pheta1 C T 5: 121,991,147 (GRCm39) P170S possibly damaging Het
Plec A G 15: 76,067,721 (GRCm39) probably null Het
Plekhg5 T C 4: 152,192,780 (GRCm39) V582A probably benign Het
Plekhh2 G T 17: 84,873,841 (GRCm39) E375D probably benign Het
Pramel55 G T 5: 95,949,545 (GRCm39) R97S probably damaging Het
Prp2rt A G 13: 97,235,724 (GRCm39) S8P probably benign Het
Psmd4 G A 3: 94,940,767 (GRCm39) T332I probably benign Het
Ptprc T A 1: 138,041,485 (GRCm39) T76S probably benign Het
Rab44 A T 17: 29,358,315 (GRCm39) I168L Het
Ros1 T C 10: 51,958,061 (GRCm39) T1872A probably benign Het
Scgb1b24 A T 7: 33,443,493 (GRCm39) K51* probably null Het
Scube2 A T 7: 109,428,345 (GRCm39) D509E probably benign Het
Sgo2b A T 8: 64,393,067 (GRCm39) S123R probably damaging Het
Smc3 G C 19: 53,617,150 (GRCm39) R521P possibly damaging Het
Socs4 G A 14: 47,528,034 (GRCm39) R323H probably damaging Het
Socs5 T A 17: 87,441,067 (GRCm39) D2E probably benign Het
Sra1 A G 18: 36,810,299 (GRCm39) V121A probably damaging Het
Stimate T C 14: 30,594,645 (GRCm39) S253P probably benign Het
Tanc1 T C 2: 59,601,548 (GRCm39) L143P probably damaging Het
Tcerg1l A T 7: 137,811,490 (GRCm39) F568Y probably damaging Het
Trpm7 T C 2: 126,671,140 (GRCm39) E614G probably damaging Het
Tuba4a G T 1: 75,192,686 (GRCm39) H337Q Het
Tubgcp6 G A 15: 88,985,100 (GRCm39) H1663Y probably damaging Het
Ush2a A G 1: 188,175,316 (GRCm39) Y1138C probably damaging Het
Vmn1r18 A T 6: 57,367,535 (GRCm39) N6K possibly damaging Het
Vmn1r213 G A 13: 23,195,944 (GRCm39) A176T Het
Vmn1r215 A T 13: 23,260,749 (GRCm39) H263L probably benign Het
Vmn2r51 CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC CGGC 7: 9,833,712 (GRCm39) probably benign Het
Wdhd1 A C 14: 47,489,427 (GRCm39) L702* probably null Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G probably benign 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
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
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'- AGCATTGGATCTAGCAACCCTTG -3'
(R):5'- AAGTGCTTTGACAGTTCCTAAGTG -3'

Sequencing Primer
(F):5'- CTCCCGAGTGCTGGGATTAAAG -3'
(R):5'- GTTCCTAAGTGAAATACAGGGGTTC -3'
Posted On 2022-05-16