Incidental Mutation 'R3932:Med10'
ID 308522
Institutional Source Beutler Lab
Gene Symbol Med10
Ensembl Gene ENSMUSG00000021598
Gene Name mediator complex subunit 10
Synonyms D13Wsu50e
MMRRC Submission 040919-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3932 (G1)
Quality Score 149
Status Validated
Chromosome 13
Chromosomal Location 69950514-69964223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69958101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 18 (N18D)
Ref Sequence ENSEMBL: ENSMUSP00000022089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022089] [ENSMUST00000221893] [ENSMUST00000222387] [ENSMUST00000223376]
AlphaFold Q9CXU0
Predicted Effect probably damaging
Transcript: ENSMUST00000022089
AA Change: N18D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022089
Gene: ENSMUSG00000021598
AA Change: N18D

DomainStartEndE-ValueType
Pfam:Med10 9 126 1.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221045
Predicted Effect probably damaging
Transcript: ENSMUST00000221893
AA Change: N18D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222387
AA Change: N18D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223376
AA Change: N18D

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.2003 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arl1 C T 10: 88,569,398 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10a T C 7: 58,476,852 (GRCm39) M1189T possibly damaging Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
Cdc34b G A 11: 94,633,441 (GRCm39) V214M probably benign Het
Cfap54 T C 10: 92,665,619 (GRCm39) T2985A probably benign Het
Clcc1 T C 3: 108,580,682 (GRCm39) M332T probably damaging Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ctdnep1 A G 11: 69,880,400 (GRCm39) probably benign Het
Edar C T 10: 58,446,164 (GRCm39) C221Y probably damaging Het
Fam135b T A 15: 71,322,280 (GRCm39) Q1295L probably benign Het
Fam184a C T 10: 53,575,397 (GRCm39) A71T probably damaging Het
Fbxw10 A G 11: 62,759,983 (GRCm39) probably benign Het
Frmd4a T C 2: 4,542,071 (GRCm39) W247R probably damaging Het
Gcn1 A G 5: 115,725,893 (GRCm39) H553R probably benign Het
Grin3a C T 4: 49,672,472 (GRCm39) probably null Het
H2-Q6 C T 17: 35,644,542 (GRCm39) probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Mgat4b T A 11: 50,124,165 (GRCm39) H368Q possibly damaging Het
Morn5 C A 2: 35,943,035 (GRCm39) T45N probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Myrf T C 19: 10,195,515 (GRCm39) T432A probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Nav3 T A 10: 109,529,896 (GRCm39) E2148D probably damaging Het
Nfe2l3 A G 6: 51,433,595 (GRCm39) T236A possibly damaging Het
Odc1 T A 12: 17,598,801 (GRCm39) F227Y probably benign Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or5b21 T C 19: 12,839,994 (GRCm39) M285T possibly damaging Het
Pdcd1 T C 1: 93,968,989 (GRCm39) I110V probably benign Het
Pde5a G A 3: 122,554,545 (GRCm39) E212K probably damaging Het
Plin4 A G 17: 56,413,704 (GRCm39) I307T probably benign Het
Rag1 T C 2: 101,473,384 (GRCm39) Y586C probably damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rgs9 A G 11: 109,166,639 (GRCm39) probably benign Het
Rin3 A G 12: 102,356,342 (GRCm39) D961G probably damaging Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Slc13a2 T A 11: 78,289,226 (GRCm39) Y495F probably damaging Het
Tfec T A 6: 16,845,458 (GRCm39) D67V probably damaging Het
Tmem94 T C 11: 115,680,080 (GRCm39) M30T probably benign Het
Tsbp1 A G 17: 34,662,417 (GRCm39) T86A possibly damaging Het
Tubgcp6 A G 15: 88,988,617 (GRCm39) probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r85 T C 10: 130,254,336 (GRCm39) M783V probably damaging Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Zfp94 T G 7: 24,003,112 (GRCm39) D110A probably benign Het
Other mutations in Med10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Med10 APN 13 69,961,819 (GRCm39) splice site probably benign
IGL02071:Med10 APN 13 69,963,747 (GRCm39) missense probably benign 0.01
IGL03091:Med10 APN 13 69,963,816 (GRCm39) unclassified probably benign
IGL03288:Med10 APN 13 69,963,816 (GRCm39) unclassified probably benign
R0138:Med10 UTSW 13 69,959,817 (GRCm39) splice site probably benign
R0627:Med10 UTSW 13 69,963,720 (GRCm39) missense possibly damaging 0.85
R1571:Med10 UTSW 13 69,958,159 (GRCm39) missense probably damaging 1.00
R8825:Med10 UTSW 13 69,962,046 (GRCm39) missense unknown
R9672:Med10 UTSW 13 69,963,711 (GRCm39) missense probably benign 0.05
Z1177:Med10 UTSW 13 69,958,089 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAAGGCTTACCCCGTCTCTTG -3'
(R):5'- TAGAGCTACCTCTATCCCAGC -3'

Sequencing Primer
(F):5'- GTCTCTTGCCCCGCCCATAG -3'
(R):5'- AGATCCTCCTTCCCAGTGGAG -3'
Posted On 2015-04-17