Incidental Mutation 'IGL03369:Med21'
ID420229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med21
Ensembl Gene ENSMUSG00000030291
Gene Namemediator complex subunit 21
Synonyms0610007L03Rik, Srb7, D6Ertd782e, Surb7
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03369
Quality Score
Status
Chromosome6
Chromosomal Location146642547-146650732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146642645 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000145512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032429] [ENSMUST00000111650] [ENSMUST00000204040]
Predicted Effect probably benign
Transcript: ENSMUST00000032429
AA Change: V12A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032429
Gene: ENSMUSG00000030291
AA Change: V12A

DomainStartEndE-ValueType
Pfam:Med21 1 127 1.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075077
Predicted Effect probably benign
Transcript: ENSMUST00000111650
AA Change: V12A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107277
Gene: ENSMUSG00000030291
AA Change: V12A

DomainStartEndE-ValueType
Pfam:Med21 1 90 8.7e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203416
Predicted Effect probably benign
Transcript: ENSMUST00000204040
AA Change: V12A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145512
Gene: ENSMUSG00000030291
AA Change: V12A

DomainStartEndE-ValueType
Pfam:Med21 1 127 1.1e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die at the blastocyst stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,421 N72S possibly damaging Het
A2m G A 6: 121,676,903 probably null Het
Angptl3 A T 4: 99,034,820 probably benign Het
Aox4 A G 1: 58,262,587 D1106G probably benign Het
Capn13 G A 17: 73,341,154 probably benign Het
Cep250 A G 2: 155,990,271 H1371R probably benign Het
Chrna1 A T 2: 73,570,445 F247Y probably benign Het
Col2a1 T C 15: 97,982,042 T813A unknown Het
Dab2 T C 15: 6,435,309 V414A possibly damaging Het
Dach2 T C X: 113,556,240 probably benign Het
Fap A G 2: 62,503,355 probably benign Het
Fgd5 T A 6: 91,988,415 V385D probably damaging Het
Fmnl1 A G 11: 103,197,182 probably null Het
Gm8765 G T 13: 50,703,164 C946F possibly damaging Het
Gorasp2 G A 2: 70,682,992 G201D probably damaging Het
Gp2 T A 7: 119,451,560 Q316L probably damaging Het
Gpx8 T C 13: 113,043,162 I202V probably damaging Het
Gsta3 A G 1: 21,264,949 K218R probably benign Het
Lama3 C T 18: 12,553,283 T1195I probably benign Het
Map3k12 T C 15: 102,502,079 R488G possibly damaging Het
Mapt A T 11: 104,282,433 Y18F probably damaging Het
Mgat4b A G 11: 50,234,109 E457G possibly damaging Het
Mybl1 T A 1: 9,672,555 K609N probably damaging Het
Ncaph2 T G 15: 89,363,655 V75G probably benign Het
Neb A G 2: 52,178,037 Y5795H probably benign Het
Nup153 A G 13: 46,700,983 probably null Het
Olfr220 T A 1: 174,448,869 I82N probably damaging Het
Olfr811 T C 10: 129,802,471 D18G probably damaging Het
Plekhf2 G T 4: 10,990,703 T213K probably benign Het
Plekho2 C A 9: 65,559,494 G105W probably damaging Het
Polr3b G A 10: 84,676,952 G566D probably damaging Het
Rasgrf1 T C 9: 90,010,451 I1068T probably damaging Het
Rnf213 A T 11: 119,421,468 E907V probably benign Het
Runx1t1 C T 4: 13,881,107 S469F probably damaging Het
Top1 A T 2: 160,693,727 D182V unknown Het
Uckl1 T C 2: 181,570,189 T375A probably benign Het
Usp53 A T 3: 122,933,721 probably benign Het
Vmn2r61 T A 7: 42,260,093 I14N probably benign Het
Wbp4 A T 14: 79,470,118 N184K probably damaging Het
Other mutations in Med21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02647:Med21 APN 6 146649233 missense probably benign 0.44
R0049:Med21 UTSW 6 146650234 missense probably damaging 0.99
R0049:Med21 UTSW 6 146650234 missense probably damaging 0.99
R0967:Med21 UTSW 6 146650199 missense probably benign 0.02
R2106:Med21 UTSW 6 146649212 missense probably damaging 1.00
R4403:Med21 UTSW 6 146649182 nonsense probably null
R4675:Med21 UTSW 6 146650193 missense probably damaging 0.97
R4747:Med21 UTSW 6 146649202 missense possibly damaging 0.58
R4749:Med21 UTSW 6 146650101 splice site probably null
R4855:Med21 UTSW 6 146648192 missense probably damaging 1.00
R5117:Med21 UTSW 6 146647283 intron probably benign
R5344:Med21 UTSW 6 146649185 missense probably benign 0.39
R7338:Med21 UTSW 6 146642584 unclassified probably benign
Posted On2016-08-02