Incidental Mutation 'RF032:Med12l'
ID 604399
Institutional Source Beutler Lab
Gene Symbol Med12l
Ensembl Gene ENSMUSG00000056476
Gene Name mediator complex subunit 12-like
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # RF032 (G1)
Quality Score 174.468
Status Not validated
Chromosome 3
Chromosomal Location 59005825-59318682 bp(+) (GRCm38)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) CAG to CAGAAG at 59275981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000164225] [ENSMUST00000199659]
AlphaFold Q8BQM9
Predicted Effect probably benign
Transcript: ENSMUST00000040325
SMART Domains Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 730 2.6e-207 PFAM
low complexity region 744 758 N/A INTRINSIC
low complexity region 853 872 N/A INTRINSIC
low complexity region 1455 1466 N/A INTRINSIC
low complexity region 1728 1742 N/A INTRINSIC
low complexity region 1769 1783 N/A INTRINSIC
Pfam:Med12-PQL 1803 2029 2.3e-14 PFAM
low complexity region 2055 2076 N/A INTRINSIC
low complexity region 2083 2101 N/A INTRINSIC
low complexity region 2116 2136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164225
SMART Domains Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 283 765 5e-187 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1763 1777 N/A INTRINSIC
low complexity region 1804 1818 N/A INTRINSIC
Pfam:Med12-PQL 1840 2063 9.7e-66 PFAM
low complexity region 2090 2111 N/A INTRINSIC
low complexity region 2118 2136 N/A INTRINSIC
low complexity region 2151 2171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197374
Predicted Effect probably benign
Transcript: ENSMUST00000199659
SMART Domains Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 765 5.5e-209 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1761 1775 N/A INTRINSIC
low complexity region 1802 1816 N/A INTRINSIC
Pfam:Med12-PQL 1836 2062 1.7e-15 PFAM
low complexity region 2088 2130 N/A INTRINSIC
low complexity region 2144 2164 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 TACCT TACCTGACCT 17: 24,287,727 (GRCm38) probably null Het
Acap3 CTGCTG CTGCTGCATCCTGGGATGCTG 4: 155,905,102 (GRCm38) probably benign Het
Arid1b GCG GCGTCG 17: 4,995,588 (GRCm38) probably benign Het
Blm CTCC CTCCTCCTCCTCGTCC 7: 80,512,930 (GRCm38) probably benign Het
Cacna1f GAG GAGTAG X: 7,620,063 (GRCm38) probably null Het
Calhm1 C CTGTGGCCGTGG 19: 47,141,283 (GRCm38) probably null Het
Cluh CCCGAGCC CCCGAGCCCGAGCC 11: 74,669,515 (GRCm38) probably benign Het
Cyb5r4 ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 87,040,413 (GRCm38) probably benign Het
Dmkn GT GTTGTGAAAGTGGTGGAAGTGGTGGAATT 7: 30,767,182 (GRCm38) probably benign Het
Efhd2 CGCC CGCCGCAGCC 4: 141,874,772 (GRCm38) probably benign Het
Enah TGGCGGTGG TG 1: 181,921,929 (GRCm38) probably null Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,511,778 (GRCm38) probably benign Het
H2-T10 TTTCCCACTGTA T 17: 36,120,294 (GRCm38) probably null Het
Ifi207 GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC GCCTGAGCTGTGGAAGTCTC 1: 173,735,157 (GRCm38) probably benign Het
Igf1r GATGGAGC GATGGAGCTGGATATGGAGC 7: 68,226,179 (GRCm38) probably benign Het
Krtap28-10 AGCCACAGCCACCACAGCCACAGCCACCAC AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC 1: 83,042,258 (GRCm38) probably benign Het
Lmx1b TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA TACATCTTGATGCCGTCCA 2: 33,640,489 (GRCm38) probably null Het
Mn1 CAG CAGAAG 5: 111,419,711 (GRCm38) probably benign Het
Nf2 AAAAG A 11: 4,829,936 (GRCm38) probably null Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,627,587 (GRCm38) probably benign Het
Or10j2 GTGACATC G 1: 173,270,709 (GRCm38) probably null Het
Padi3 TCTCAC TC 4: 140,792,972 (GRCm38) probably benign Het
Pik3c2g G GGAGA 6: 139,635,658 (GRCm38) probably null Het
Pou3f1 GGCGGCCG GGCGGCCGCGGCCG 4: 124,657,805 (GRCm38) probably benign Het
Rassf6 ATTC ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC 5: 90,608,939 (GRCm38) probably benign Het
Reep1 CC CCCGAC 6: 71,707,968 (GRCm38) probably null Het
Slc12a1 ACAAACC ACAAACCTTTGGCCACCAAACC 2: 125,154,210 (GRCm38) probably benign Het
Smpx CCCCCCA C X: 157,720,923 (GRCm38) probably benign Het
Spaca1 TCGC TCGCTCACGC 4: 34,049,854 (GRCm38) probably benign Het
Supt20 GCAGCA GCAGCACCAGCA 3: 54,727,666 (GRCm38) probably benign Het
Tgoln1 GCTTGCCAGAAT GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT 6: 72,616,063 (GRCm38) probably benign Het
Tgoln1 T TCACCTCCCGTGGGCTTGCCAGAAG 6: 72,616,074 (GRCm38) probably benign Het
Triobp CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG 15: 78,967,036 (GRCm38) probably benign Het
Vat1l C T 8: 114,289,329 (GRCm38) L320F probably damaging Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 108,956,092 (GRCm38) probably benign Het
Other mutations in Med12l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Med12l APN 3 59,042,336 (GRCm38) missense probably damaging 0.98
IGL00561:Med12l APN 3 59,227,824 (GRCm38) missense probably benign
IGL00974:Med12l APN 3 59,083,014 (GRCm38) missense probably damaging 1.00
IGL01024:Med12l APN 3 59,073,341 (GRCm38) missense probably damaging 1.00
IGL01094:Med12l APN 3 59,093,655 (GRCm38) missense probably damaging 0.99
IGL01134:Med12l APN 3 59,042,275 (GRCm38) missense possibly damaging 0.91
IGL01535:Med12l APN 3 59,262,259 (GRCm38) missense probably damaging 1.00
IGL01653:Med12l APN 3 59,261,893 (GRCm38) missense probably damaging 1.00
IGL01735:Med12l APN 3 59,263,254 (GRCm38) missense probably damaging 1.00
IGL01972:Med12l APN 3 59,261,893 (GRCm38) missense probably damaging 1.00
IGL02005:Med12l APN 3 59,244,947 (GRCm38) missense probably damaging 1.00
IGL02098:Med12l APN 3 59,275,855 (GRCm38) missense possibly damaging 0.92
IGL02115:Med12l APN 3 59,068,319 (GRCm38) missense probably benign 0.00
IGL02231:Med12l APN 3 59,245,882 (GRCm38) missense probably damaging 1.00
IGL02259:Med12l APN 3 59,245,843 (GRCm38) missense probably damaging 1.00
IGL02369:Med12l APN 3 59,257,373 (GRCm38) missense probably benign 0.00
IGL02424:Med12l APN 3 59,092,722 (GRCm38) missense probably benign 0.21
IGL02501:Med12l APN 3 59,261,976 (GRCm38) missense possibly damaging 0.71
IGL02525:Med12l APN 3 59,068,368 (GRCm38) missense probably benign 0.01
IGL02530:Med12l APN 3 59,077,089 (GRCm38) missense probably damaging 1.00
IGL02735:Med12l APN 3 59,093,646 (GRCm38) missense probably damaging 1.00
IGL02865:Med12l APN 3 59,294,292 (GRCm38) missense probably damaging 1.00
IGL03183:Med12l APN 3 59,037,555 (GRCm38) splice site probably null
IGL03264:Med12l APN 3 59,301,367 (GRCm38) nonsense probably null
FR4304:Med12l UTSW 3 59,275,982 (GRCm38) small insertion probably benign
FR4340:Med12l UTSW 3 59,275,985 (GRCm38) small insertion probably benign
FR4342:Med12l UTSW 3 59,275,994 (GRCm38) small insertion probably benign
FR4342:Med12l UTSW 3 59,275,988 (GRCm38) small insertion probably benign
FR4449:Med12l UTSW 3 59,275,963 (GRCm38) nonsense probably null
FR4548:Med12l UTSW 3 59,275,982 (GRCm38) small insertion probably benign
FR4589:Med12l UTSW 3 59,275,956 (GRCm38) small insertion probably benign
FR4976:Med12l UTSW 3 59,275,977 (GRCm38) small insertion probably benign
P0007:Med12l UTSW 3 59,091,395 (GRCm38) splice site probably benign
P0045:Med12l UTSW 3 59,091,535 (GRCm38) missense probably damaging 0.99
R0030:Med12l UTSW 3 59,248,655 (GRCm38) missense probably damaging 1.00
R0030:Med12l UTSW 3 59,248,655 (GRCm38) missense probably damaging 1.00
R0148:Med12l UTSW 3 59,037,654 (GRCm38) missense probably damaging 1.00
R0325:Med12l UTSW 3 59,077,059 (GRCm38) missense possibly damaging 0.88
R0330:Med12l UTSW 3 59,227,702 (GRCm38) missense probably damaging 1.00
R0388:Med12l UTSW 3 59,093,504 (GRCm38) splice site probably benign
R0542:Med12l UTSW 3 59,042,401 (GRCm38) missense probably damaging 1.00
R0624:Med12l UTSW 3 59,037,702 (GRCm38) nonsense probably null
R0625:Med12l UTSW 3 59,247,437 (GRCm38) missense probably damaging 1.00
R0671:Med12l UTSW 3 59,264,929 (GRCm38) missense probably damaging 1.00
R0706:Med12l UTSW 3 59,261,980 (GRCm38) missense probably damaging 1.00
R0785:Med12l UTSW 3 59,260,832 (GRCm38) missense probably damaging 1.00
R1054:Med12l UTSW 3 59,248,651 (GRCm38) missense probably damaging 0.99
R1102:Med12l UTSW 3 59,244,836 (GRCm38) missense probably damaging 0.99
R1391:Med12l UTSW 3 59,037,738 (GRCm38) missense probably benign 0.00
R1501:Med12l UTSW 3 59,260,835 (GRCm38) critical splice donor site probably null
R1544:Med12l UTSW 3 59,265,240 (GRCm38) missense possibly damaging 0.71
R1662:Med12l UTSW 3 59,093,617 (GRCm38) missense probably damaging 1.00
R1670:Med12l UTSW 3 59,275,958 (GRCm38) small insertion probably benign
R1839:Med12l UTSW 3 59,068,319 (GRCm38) missense probably benign
R1854:Med12l UTSW 3 59,260,772 (GRCm38) missense probably damaging 1.00
R2045:Med12l UTSW 3 59,262,310 (GRCm38) nonsense probably null
R2070:Med12l UTSW 3 59,244,905 (GRCm38) missense probably damaging 1.00
R2132:Med12l UTSW 3 59,265,282 (GRCm38) splice site probably null
R2290:Med12l UTSW 3 59,244,938 (GRCm38) missense probably damaging 1.00
R2325:Med12l UTSW 3 59,232,454 (GRCm38) missense probably damaging 0.99
R2352:Med12l UTSW 3 59,240,692 (GRCm38) missense probably damaging 1.00
R2484:Med12l UTSW 3 59,297,838 (GRCm38) missense probably benign 0.18
R2906:Med12l UTSW 3 59,257,082 (GRCm38) missense probably damaging 1.00
R3735:Med12l UTSW 3 59,091,495 (GRCm38) missense probably damaging 1.00
R3736:Med12l UTSW 3 59,091,495 (GRCm38) missense probably damaging 1.00
R3774:Med12l UTSW 3 59,247,942 (GRCm38) missense probably damaging 0.97
R3957:Med12l UTSW 3 59,073,168 (GRCm38) missense probably damaging 0.99
R4020:Med12l UTSW 3 59,247,942 (GRCm38) missense probably damaging 0.97
R4087:Med12l UTSW 3 59,297,921 (GRCm38) missense probably benign 0.00
R4231:Med12l UTSW 3 59,257,223 (GRCm38) splice site probably null
R4233:Med12l UTSW 3 59,257,223 (GRCm38) splice site probably null
R4235:Med12l UTSW 3 59,257,223 (GRCm38) splice site probably null
R4236:Med12l UTSW 3 59,257,223 (GRCm38) splice site probably null
R4327:Med12l UTSW 3 59,265,267 (GRCm38) missense probably benign 0.01
R4328:Med12l UTSW 3 59,265,267 (GRCm38) missense probably benign 0.01
R4346:Med12l UTSW 3 59,031,555 (GRCm38) missense probably damaging 1.00
R4543:Med12l UTSW 3 59,091,508 (GRCm38) missense probably damaging 1.00
R4559:Med12l UTSW 3 59,007,102 (GRCm38) critical splice donor site probably null
R4776:Med12l UTSW 3 59,233,212 (GRCm38) missense probably damaging 1.00
R4877:Med12l UTSW 3 59,244,793 (GRCm38) missense probably damaging 1.00
R4983:Med12l UTSW 3 59,261,929 (GRCm38) missense probably damaging 1.00
R5114:Med12l UTSW 3 59,259,688 (GRCm38) missense possibly damaging 0.85
R5125:Med12l UTSW 3 59,267,214 (GRCm38) missense possibly damaging 0.83
R5230:Med12l UTSW 3 59,245,788 (GRCm38) missense probably damaging 1.00
R5407:Med12l UTSW 3 59,258,201 (GRCm38) missense probably damaging 1.00
R5426:Med12l UTSW 3 59,248,722 (GRCm38) missense probably damaging 0.98
R5439:Med12l UTSW 3 59,263,213 (GRCm38) missense probably null 1.00
R5449:Med12l UTSW 3 59,259,706 (GRCm38) missense probably damaging 1.00
R5596:Med12l UTSW 3 59,252,350 (GRCm38) missense probably benign 0.45
R5716:Med12l UTSW 3 59,301,377 (GRCm38) critical splice donor site probably null
R5833:Med12l UTSW 3 59,265,226 (GRCm38) missense possibly damaging 0.95
R5883:Med12l UTSW 3 59,091,468 (GRCm38) missense probably damaging 1.00
R6264:Med12l UTSW 3 59,256,002 (GRCm38) missense probably damaging 1.00
R6269:Med12l UTSW 3 59,227,822 (GRCm38) missense probably damaging 1.00
R6394:Med12l UTSW 3 59,235,087 (GRCm38) missense probably damaging 1.00
R6400:Med12l UTSW 3 59,247,911 (GRCm38) missense probably damaging 1.00
R6475:Med12l UTSW 3 59,257,079 (GRCm38) missense probably damaging 1.00
R6489:Med12l UTSW 3 59,257,407 (GRCm38) missense probably damaging 0.99
R6654:Med12l UTSW 3 59,262,292 (GRCm38) missense probably damaging 1.00
R6881:Med12l UTSW 3 59,267,165 (GRCm38) missense probably benign 0.00
R7110:Med12l UTSW 3 59,262,224 (GRCm38) missense possibly damaging 0.92
R7134:Med12l UTSW 3 59,093,759 (GRCm38) nonsense probably null
R7137:Med12l UTSW 3 59,258,254 (GRCm38) missense probably damaging 1.00
R7159:Med12l UTSW 3 59,276,017 (GRCm38) missense probably benign
R7341:Med12l UTSW 3 59,042,403 (GRCm38) missense possibly damaging 0.53
R7349:Med12l UTSW 3 59,258,325 (GRCm38) missense probably damaging 1.00
R7413:Med12l UTSW 3 59,091,550 (GRCm38) missense probably benign 0.00
R7495:Med12l UTSW 3 59,244,773 (GRCm38) missense probably damaging 1.00
R7678:Med12l UTSW 3 59,076,720 (GRCm38) missense probably damaging 1.00
R7697:Med12l UTSW 3 59,240,657 (GRCm38) missense probably damaging 1.00
R7714:Med12l UTSW 3 59,093,586 (GRCm38) missense probably benign 0.17
R7725:Med12l UTSW 3 59,255,992 (GRCm38) missense probably damaging 1.00
R7846:Med12l UTSW 3 59,264,934 (GRCm38) missense probably damaging 1.00
R7852:Med12l UTSW 3 59,247,911 (GRCm38) missense probably damaging 1.00
R8080:Med12l UTSW 3 59,265,186 (GRCm38) missense probably damaging 1.00
R8181:Med12l UTSW 3 59,261,968 (GRCm38) missense probably damaging 1.00
R8223:Med12l UTSW 3 59,086,363 (GRCm38) missense possibly damaging 0.79
R8560:Med12l UTSW 3 59,037,605 (GRCm38) missense probably damaging 1.00
R8708:Med12l UTSW 3 59,252,330 (GRCm38) missense probably benign 0.00
R8865:Med12l UTSW 3 59,071,882 (GRCm38) missense probably benign
R8947:Med12l UTSW 3 59,077,022 (GRCm38) splice site probably benign
R8976:Med12l UTSW 3 59,275,908 (GRCm38) missense probably damaging 0.99
R9016:Med12l UTSW 3 59,255,873 (GRCm38) missense probably damaging 0.96
R9183:Med12l UTSW 3 59,077,077 (GRCm38) missense probably damaging 1.00
R9487:Med12l UTSW 3 59,247,932 (GRCm38) missense probably benign
R9526:Med12l UTSW 3 59,076,786 (GRCm38) missense probably damaging 0.96
R9802:Med12l UTSW 3 59,261,925 (GRCm38) missense probably damaging 1.00
RF004:Med12l UTSW 3 59,275,969 (GRCm38) small insertion probably benign
RF011:Med12l UTSW 3 59,275,980 (GRCm38) small insertion probably benign
RF013:Med12l UTSW 3 59,275,966 (GRCm38) small insertion probably benign
RF020:Med12l UTSW 3 59,275,958 (GRCm38) small insertion probably benign
RF021:Med12l UTSW 3 59,073,290 (GRCm38) missense probably benign 0.19
RF027:Med12l UTSW 3 59,275,981 (GRCm38) small insertion probably benign
RF027:Med12l UTSW 3 59,275,967 (GRCm38) small insertion probably benign
RF030:Med12l UTSW 3 59,275,989 (GRCm38) small insertion probably benign
RF032:Med12l UTSW 3 59,275,989 (GRCm38) small insertion probably benign
RF032:Med12l UTSW 3 59,275,985 (GRCm38) small insertion probably benign
RF033:Med12l UTSW 3 59,275,995 (GRCm38) small insertion probably benign
RF033:Med12l UTSW 3 59,275,987 (GRCm38) small insertion probably benign
RF033:Med12l UTSW 3 59,275,981 (GRCm38) small insertion probably benign
RF037:Med12l UTSW 3 59,275,956 (GRCm38) small insertion probably benign
RF040:Med12l UTSW 3 59,275,989 (GRCm38) small insertion probably benign
RF040:Med12l UTSW 3 59,275,967 (GRCm38) small insertion probably benign
RF041:Med12l UTSW 3 59,275,995 (GRCm38) small insertion probably benign
RF041:Med12l UTSW 3 59,275,985 (GRCm38) small insertion probably benign
RF042:Med12l UTSW 3 59,275,981 (GRCm38) small insertion probably benign
RF042:Med12l UTSW 3 59,275,967 (GRCm38) small insertion probably benign
RF042:Med12l UTSW 3 59,275,956 (GRCm38) small insertion probably benign
RF042:Med12l UTSW 3 59,275,995 (GRCm38) small insertion probably benign
RF049:Med12l UTSW 3 59,275,969 (GRCm38) small insertion probably benign
RF050:Med12l UTSW 3 59,275,973 (GRCm38) small insertion probably benign
RF053:Med12l UTSW 3 59,275,993 (GRCm38) small insertion probably benign
RF055:Med12l UTSW 3 59,275,983 (GRCm38) small insertion probably benign
RF056:Med12l UTSW 3 59,275,993 (GRCm38) small insertion probably benign
RF057:Med12l UTSW 3 59,275,980 (GRCm38) small insertion probably benign
RF063:Med12l UTSW 3 59,275,973 (GRCm38) small insertion probably benign
RF063:Med12l UTSW 3 59,275,958 (GRCm38) small insertion probably benign
X0062:Med12l UTSW 3 59,233,179 (GRCm38) missense probably damaging 1.00
Z1176:Med12l UTSW 3 59,296,117 (GRCm38) missense probably benign 0.00
Z1176:Med12l UTSW 3 59,244,943 (GRCm38) missense probably damaging 1.00
Z1176:Med12l UTSW 3 59,091,417 (GRCm38) missense probably damaging 0.98
Z1177:Med12l UTSW 3 59,247,875 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTAGGTGGCTCCCGATTG -3'
(R):5'- AGTCCTTAGCACTTTGGGCTTC -3'

Sequencing Primer
(F):5'- TCCCGATTGGACCCTGC -3'
(R):5'- GGGCTTCTTCCCAAGATCAATAATG -3'
Posted On 2019-12-04