Incidental Mutation 'R7662:Med1'
ID 591657
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 045737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7662 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98042980-98084119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98046218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1526 (N1526S)
Ref Sequence ENSEMBL: ENSMUSP00000103169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018304] [ENSMUST00000092735] [ENSMUST00000107545] [ENSMUST00000150378]
AlphaFold Q925J9
Predicted Effect unknown
Transcript: ENSMUST00000018304
AA Change: N1511S
SMART Domains Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: N1511S

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: N1526S
SMART Domains Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: N1526S

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 probably benign
Transcript: ENSMUST00000150378
SMART Domains Protein: ENSMUSP00000119003
Gene: ENSMUSG00000020883

DomainStartEndE-ValueType
FBOX 30 70 2.62e-8 SMART
LRR 92 117 3.69e1 SMART
LRR 121 146 7.9e-4 SMART
LRR_CC 147 172 4.61e-5 SMART
LRR 173 198 7.15e-2 SMART
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,885,999 (GRCm39) S48L probably benign Het
Abi3bp A G 16: 56,437,686 (GRCm39) probably null Het
Adss1 T A 12: 112,606,172 (GRCm39) V456E probably damaging Het
Aimp1 A T 3: 132,379,827 (GRCm39) V105E probably benign Het
Ankrd6 G A 4: 32,818,694 (GRCm39) R270C probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asb15 T A 6: 24,566,089 (GRCm39) D347E probably benign Het
Axin2 T A 11: 108,833,282 (GRCm39) L489Q possibly damaging Het
Baiap2l1 G A 5: 144,294,700 (GRCm39) probably benign Het
Cdc6 T A 11: 98,801,438 (GRCm39) N194K possibly damaging Het
Cdc6 T C 11: 98,807,836 (GRCm39) L443P probably benign Het
Celf2 C A 2: 6,558,728 (GRCm39) G393C probably damaging Het
Cep290 T A 10: 100,373,665 (GRCm39) M1315K probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A T 9: 9,661,390 (GRCm39) M887K probably benign Het
Col17a1 T C 19: 47,669,940 (GRCm39) I71V probably benign Het
Crot T C 5: 9,019,072 (GRCm39) M494V probably damaging Het
Ctnna2 A T 6: 77,613,852 (GRCm39) V246D probably damaging Het
Cyb5r4 A G 9: 86,909,091 (GRCm39) E56G possibly damaging Het
Dennd2a A G 6: 39,470,037 (GRCm39) Y552H probably benign Het
Dennd4a A G 9: 64,759,713 (GRCm39) I273V probably damaging Het
Dkk2 A G 3: 131,883,629 (GRCm39) probably null Het
Dnaja2 A C 8: 86,265,905 (GRCm39) D393E probably benign Het
Dscc1 T A 15: 54,939,561 (GRCm39) I461F possibly damaging Het
Dspp A T 5: 104,325,736 (GRCm39) S700C unknown Het
Ect2 T A 3: 27,185,947 (GRCm39) H512L probably damaging Het
Eif1b A G 9: 120,323,277 (GRCm39) T46A possibly damaging Het
Fam114a2 A T 11: 57,398,391 (GRCm39) D182E probably damaging Het
Fez1 C A 9: 36,781,796 (GRCm39) P347H probably damaging Het
Fgd5 G A 6: 92,026,912 (GRCm39) probably null Het
Flad1 T A 3: 89,310,758 (GRCm39) I430F probably damaging Het
Gal3st2b T C 1: 93,868,614 (GRCm39) Y282H probably damaging Het
Gm29106 T A 1: 118,127,137 (GRCm39) N276K possibly damaging Het
Gm36176 C A 10: 77,682,686 (GRCm39) S16Y unknown Het
Gm5624 T C 14: 44,799,390 (GRCm39) R56G possibly damaging Het
Gpatch11 A C 17: 79,146,484 (GRCm39) Q43P probably benign Het
Gtpbp2 A G 17: 46,477,361 (GRCm39) T409A probably benign Het
Hmcn2 T C 2: 31,272,357 (GRCm39) I1279T probably benign Het
Itih3 T A 14: 30,639,287 (GRCm39) N429Y probably benign Het
Lrp5 A G 19: 3,736,353 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,452 (GRCm39) Y93F probably benign Het
Lypd9 T C 11: 58,338,269 (GRCm39) N41S probably benign Het
Malrd1 T A 2: 15,876,265 (GRCm39) V1404D unknown Het
Myt1l A G 12: 29,876,868 (GRCm39) D173G unknown Het
Nckap1l A T 15: 103,371,012 (GRCm39) H197L probably damaging Het
Nipa1 T C 7: 55,629,372 (GRCm39) E247G probably damaging Het
Nmrk1 A T 19: 18,619,542 (GRCm39) R132* probably null Het
Nrap G T 19: 56,308,715 (GRCm39) A1700E probably benign Het
Odr4 T C 1: 150,258,045 (GRCm39) S197G probably benign Het
Or13p8 T A 4: 118,583,504 (GRCm39) F20Y probably damaging Het
Or8g32 A T 9: 39,305,389 (GRCm39) M98L probably benign Het
Padi6 T C 4: 140,456,306 (GRCm39) T563A probably benign Het
Pcdhb19 G A 18: 37,631,788 (GRCm39) E528K probably damaging Het
Pcnt T C 10: 76,223,356 (GRCm39) D1942G probably benign Het
Pcnx2 C T 8: 126,545,510 (GRCm39) W1167* probably null Het
Pkp3 C T 7: 140,658,292 (GRCm39) T19I probably benign Het
Plekhg5 T C 4: 152,188,755 (GRCm39) L199P probably damaging Het
Rasal1 A G 5: 120,800,249 (GRCm39) T171A probably benign Het
Rgsl1 T C 1: 153,701,225 (GRCm39) I410V probably benign Het
Scart2 T C 7: 139,874,725 (GRCm39) V401A possibly damaging Het
Sftpa1 C A 14: 40,856,169 (GRCm39) N171K probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smap1 A T 1: 23,916,855 (GRCm39) N91K probably damaging Het
Tenm3 A G 8: 48,788,762 (GRCm39) S695P probably benign Het
Thoc3 A T 13: 54,611,617 (GRCm39) H223Q probably damaging Het
Tmco4 T C 4: 138,737,872 (GRCm39) F156L probably benign Het
Tmem30a C T 9: 79,682,513 (GRCm39) V188I probably benign Het
Trim27 T A 13: 21,376,328 (GRCm39) C359S probably benign Het
Trrap A G 5: 144,769,321 (GRCm39) T2609A probably benign Het
Ttn A G 2: 76,692,744 (GRCm39) V446A Het
Vat1l T A 8: 115,009,084 (GRCm39) Y273N probably damaging Het
Vmn1r129 T A 7: 21,094,552 (GRCm39) H222L possibly damaging Het
Vmn2r19 A G 6: 123,308,521 (GRCm39) T533A probably benign Het
Vmn2r77 T A 7: 86,460,492 (GRCm39) L606* probably null Het
Vmn2r93 G T 17: 18,525,631 (GRCm39) V430L probably benign Het
Vps50 T A 6: 3,562,304 (GRCm39) N466K probably damaging Het
Zfp507 A T 7: 35,487,229 (GRCm39) Y746* probably null Het
Zfp521 A C 18: 13,977,173 (GRCm39) L1080R probably damaging Het
Zfp74 A G 7: 29,653,278 (GRCm39) probably null Het
Zfp831 G A 2: 174,487,934 (GRCm39) A870T possibly damaging Het
Zfp936 A T 7: 42,839,336 (GRCm39) K268* probably null Het
Zhx2 C A 15: 57,685,572 (GRCm39) R314S probably damaging Het
Zkscan16 A T 4: 58,957,679 (GRCm39) K654* 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
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
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'- CCCTCGGGTTGGTTTACATATATC -3'
(R):5'- ACAGTGAAAGTGAGTCAGGCTC -3'

Sequencing Primer
(F):5'- CCTCTGGACGTGTCTGTTTAGAAAG -3'
(R):5'- AAGTGAGTCAGGCTCCTCCATAG -3'
Posted On 2019-11-12