Incidental Mutation 'R3807:Med14'
ID 275006
Institutional Source Beutler Lab
Gene Symbol Med14
Ensembl Gene ENSMUSG00000064127
Gene Name mediator complex subunit 14
Synonyms Crsp2, ENSMUSG00000073278, 9930001L01Rik, LOC270579, ORF1, Trap170
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R3807 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 12541608-12628312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12553416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 463 (Y463C)
Ref Sequence ENSEMBL: ENSMUSP00000111143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096495] [ENSMUST00000115481]
AlphaFold A2ABV5
Predicted Effect probably damaging
Transcript: ENSMUST00000096495
AA Change: Y1102C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094239
Gene: ENSMUSG00000064127
AA Change: Y1102C

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
Pfam:Med14 55 244 6.7e-63 PFAM
low complexity region 608 621 N/A INTRINSIC
low complexity region 1005 1018 N/A INTRINSIC
low complexity region 1065 1086 N/A INTRINSIC
low complexity region 1346 1361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115481
AA Change: Y463C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111143
Gene: ENSMUSG00000064127
AA Change: Y463C

DomainStartEndE-ValueType
low complexity region 366 379 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
low complexity region 707 722 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124053
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Med14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Med14 APN X 12,613,003 (GRCm39) splice site probably benign
IGL00670:Med14 APN X 12,620,428 (GRCm39) missense probably damaging 0.98
IGL00895:Med14 APN X 12,547,039 (GRCm39) missense probably damaging 0.99
IGL02434:Med14 APN X 12,612,063 (GRCm39) missense possibly damaging 0.89
IGL03064:Med14 APN X 12,613,742 (GRCm39) missense probably benign 0.04
R0295:Med14 UTSW X 12,551,987 (GRCm39) missense probably damaging 1.00
R2844:Med14 UTSW X 12,550,235 (GRCm39) missense probably benign 0.01
R2860:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R2861:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R2862:Med14 UTSW X 12,585,936 (GRCm39) missense probably benign
R3157:Med14 UTSW X 12,550,330 (GRCm39) splice site probably benign
R3158:Med14 UTSW X 12,550,330 (GRCm39) splice site probably benign
X0022:Med14 UTSW X 12,553,380 (GRCm39) missense probably damaging 1.00
Z1088:Med14 UTSW X 12,543,845 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACACTCACTTGTGCCAGCTC -3'
(R):5'- GCAACCCACTTTGAAAGTACAG -3'

Sequencing Primer
(F):5'- TTGTGCCAGCTCGAGGAGAATG -3'
(R):5'- CTACATAGTAAGTTCTAGGGCAGCC -3'
Posted On 2015-04-02