Incidental Mutation 'IGL00977:Med16'
ID 28422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med16
Ensembl Gene ENSMUSG00000013833
Gene Name mediator complex subunit 16
Synonyms Thrap5, 95kDa, Trap95
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00977
Quality Score
Status
Chromosome 10
Chromosomal Location 79730543-79744757 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 79743459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000128463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409] [ENSMUST00000181321] [ENSMUST00000218970] [ENSMUST00000171416]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000045628
SMART Domains Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 1.2e-35 PFAM
Pfam:R3H 181 244 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105378
AA Change: M36K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: M36K

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
WD40 94 133 1.05e-7 SMART
Blast:WD40 143 169 4e-8 BLAST
low complexity region 206 217 N/A INTRINSIC
WD40 226 267 1.53e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163125
Predicted Effect probably benign
Transcript: ENSMUST00000164705
SMART Domains Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 172 6.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165684
AA Change: M37K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: M37K

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
WD40 95 134 1.05e-7 SMART
Blast:WD40 144 170 4e-8 BLAST
low complexity region 207 218 N/A INTRINSIC
WD40 227 268 1.53e2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166964
AA Change: M1K

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833
AA Change: M1K

DomainStartEndE-ValueType
WD40 59 98 1.05e-7 SMART
Pfam:Med16 108 162 2.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178620
Predicted Effect probably benign
Transcript: ENSMUST00000170409
SMART Domains Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 105 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181321
Predicted Effect probably benign
Transcript: ENSMUST00000218970
Predicted Effect probably null
Transcript: ENSMUST00000171416
SMART Domains Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 4.9e-39 PFAM
Pfam:R3H 183 243 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219358
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,284 (GRCm39) F3619L probably damaging Het
Asic5 T A 3: 81,911,953 (GRCm39) V183E possibly damaging Het
Atp2b1 T C 10: 98,822,837 (GRCm39) V164A possibly damaging Het
Bend3 A G 10: 43,386,945 (GRCm39) Q446R possibly damaging Het
Ccdc80 C A 16: 44,916,627 (GRCm39) T461K probably benign Het
Cep350 T A 1: 155,808,611 (GRCm39) E655V probably null Het
Chi3l1 T C 1: 134,115,711 (GRCm39) F232L possibly damaging Het
Degs1 T A 1: 182,106,774 (GRCm39) I162F probably benign Het
Dhdds A T 4: 133,727,571 (GRCm39) probably benign Het
Herc4 A T 10: 63,147,346 (GRCm39) Y821F probably damaging Het
Hpf1 A G 8: 61,358,753 (GRCm39) H303R probably benign Het
Kcnk10 A T 12: 98,484,792 (GRCm39) C115S probably damaging Het
Map3k13 T C 16: 21,740,514 (GRCm39) S614P probably benign Het
Me2 A T 18: 73,924,248 (GRCm39) N321K probably benign Het
Mycbp2 A G 14: 103,410,078 (GRCm39) F2651L probably damaging Het
Prrc2b C T 2: 32,103,822 (GRCm39) T1100I probably benign Het
Scn9a T A 2: 66,314,645 (GRCm39) Q1680L probably damaging Het
Sh3rf2 A G 18: 42,244,283 (GRCm39) T250A probably benign Het
Sting1 C T 18: 35,867,620 (GRCm39) E359K probably damaging Het
Tpp2 T C 1: 44,022,451 (GRCm39) F950L possibly damaging Het
Vmn2r129 C A 4: 156,686,491 (GRCm39) noncoding transcript Het
Other mutations in Med16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02328:Med16 APN 10 79,743,376 (GRCm39) missense probably damaging 1.00
IGL03123:Med16 APN 10 79,732,667 (GRCm39) missense probably damaging 1.00
R0139:Med16 UTSW 10 79,732,635 (GRCm39) missense probably benign 0.17
R0254:Med16 UTSW 10 79,736,034 (GRCm39) missense possibly damaging 0.94
R1458:Med16 UTSW 10 79,743,312 (GRCm39) unclassified probably benign
R1483:Med16 UTSW 10 79,738,934 (GRCm39) missense possibly damaging 0.88
R1524:Med16 UTSW 10 79,734,150 (GRCm39) missense probably damaging 1.00
R1612:Med16 UTSW 10 79,735,079 (GRCm39) missense probably damaging 1.00
R1700:Med16 UTSW 10 79,735,169 (GRCm39) missense probably benign 0.10
R1900:Med16 UTSW 10 79,734,765 (GRCm39) missense probably damaging 1.00
R1960:Med16 UTSW 10 79,742,929 (GRCm39) missense possibly damaging 0.94
R2120:Med16 UTSW 10 79,738,916 (GRCm39) missense possibly damaging 0.63
R2895:Med16 UTSW 10 79,739,005 (GRCm39) splice site probably null
R4419:Med16 UTSW 10 79,734,216 (GRCm39) missense probably benign
R4794:Med16 UTSW 10 79,735,951 (GRCm39) missense probably damaging 1.00
R4970:Med16 UTSW 10 79,742,871 (GRCm39) critical splice donor site probably null
R4975:Med16 UTSW 10 79,738,839 (GRCm39) missense possibly damaging 0.93
R5724:Med16 UTSW 10 79,731,243 (GRCm39) missense probably damaging 1.00
R5926:Med16 UTSW 10 79,738,362 (GRCm39) missense probably damaging 0.99
R6185:Med16 UTSW 10 79,732,197 (GRCm39) missense probably damaging 1.00
R7097:Med16 UTSW 10 79,739,177 (GRCm39) missense probably damaging 1.00
R7346:Med16 UTSW 10 79,744,650 (GRCm39) critical splice donor site probably null
R7350:Med16 UTSW 10 79,739,031 (GRCm39) missense probably damaging 1.00
R7808:Med16 UTSW 10 79,734,252 (GRCm39) missense probably damaging 1.00
R7877:Med16 UTSW 10 79,734,206 (GRCm39) nonsense probably null
Posted On 2013-04-17