Incidental Mutation 'R5374:Med1'
ID 428954
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 042950-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5374 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98054789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 378 (K378N)
Ref Sequence ENSEMBL: ENSMUSP00000090411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545]
AlphaFold Q925J9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018304
AA Change: K363N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: K363N

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 damaging
Transcript: ENSMUST00000092735
AA Change: K378N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: K378N

DomainStartEndE-ValueType
Pfam:Med1 33 429 1.2e-113 PFAM
transmembrane domain 585 607 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107545
AA Change: K378N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: K378N

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Astn2 A C 4: 65,315,242 (GRCm39) V1145G probably damaging Het
Babam2 C T 5: 32,164,574 (GRCm39) probably benign Het
Blvrb A G 7: 27,165,271 (GRCm39) H238R possibly damaging Het
Cacna1b C T 2: 24,596,228 (GRCm39) V488I probably damaging Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Clcn2 C A 16: 20,528,419 (GRCm39) G478W possibly damaging Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cox7c T C 13: 86,194,739 (GRCm39) Y19C probably benign Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dock5 A G 14: 68,043,205 (GRCm39) V864A possibly damaging Het
Dock7 A G 4: 98,877,275 (GRCm39) F1088L possibly damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Entpd2 C T 2: 25,289,738 (GRCm39) T380I probably damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Ginm1 A G 10: 7,655,078 (GRCm39) S55P probably damaging Het
Glt1d1 C A 5: 127,734,148 (GRCm39) probably null Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm8221 A G 15: 77,510,352 (GRCm39) noncoding transcript Het
Gramd1c A G 16: 43,803,604 (GRCm39) V603A probably benign Het
Grm1 A G 10: 10,956,186 (GRCm39) S33P probably benign Het
Gstp3 T C 19: 4,107,922 (GRCm39) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Nom1 C G 5: 29,646,377 (GRCm39) R555G probably damaging Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or52e18 G T 7: 104,609,203 (GRCm39) H245Q probably damaging Het
Or5p52 T C 7: 107,502,698 (GRCm39) I258T possibly damaging Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rangap1 A T 15: 81,590,695 (GRCm39) S466T probably benign Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rhobtb3 T C 13: 76,027,014 (GRCm39) Y453C probably damaging Het
Rspry1 T C 8: 95,349,636 (GRCm39) V8A probably benign Het
Rspry1 C A 8: 95,380,892 (GRCm39) R399S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Sap18b G A 8: 96,551,998 (GRCm39) A3T unknown Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Skint3 T A 4: 112,155,386 (GRCm39) D381E possibly damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Tcf20 A T 15: 82,736,158 (GRCm39) N1764K probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Ticrr T G 7: 79,340,690 (GRCm39) Y1031* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Trpm3 C T 19: 22,903,548 (GRCm39) R945* probably null Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Ush2a C T 1: 188,487,403 (GRCm39) T3057M probably benign Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly 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
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
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'- CTAAAGCCATCTGGGTGTTGTTTC -3'
(R):5'- GAGGTCTGTATAGCTAGGTAACG -3'

Sequencing Primer
(F):5'- CATCTCCCAGTAAGTTGATCAGAAGG -3'
(R):5'- GGTCTGTATAGCTAGGTAACGTTTAC -3'
Posted On 2016-09-06