Incidental Mutation 'IGL03123:Med16'
ID 410056
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 # IGL03123
Quality Score
Status
Chromosome 10
Chromosomal Location 79730543-79744757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79732667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 699 (V699A)
Ref Sequence ENSEMBL: ENSMUSP00000129375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061653] [ENSMUST00000105378] [ENSMUST00000165684] [ENSMUST00000217837]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000061653
SMART Domains Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780

DomainStartEndE-ValueType
Tryp_SPc 25 249 8.25e-76 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105378
AA Change: V698A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: V698A

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 probably damaging
Transcript: ENSMUST00000165684
AA Change: V699A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: V699A

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 noncoding transcript
Transcript: ENSMUST00000170375
Predicted Effect probably benign
Transcript: ENSMUST00000217837
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,311,218 (GRCm39) V96A probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
Caprin2 G T 6: 148,796,505 (GRCm39) A36E probably damaging Het
Castor1 A T 11: 4,170,278 (GRCm39) T119S probably damaging Het
Dnase1l2 T C 17: 24,661,226 (GRCm39) M28V possibly damaging Het
Eci1 T A 17: 24,655,300 (GRCm39) probably null Het
Edil3 T A 13: 89,279,855 (GRCm39) S178T probably damaging Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Exoc3l4 A G 12: 111,388,547 (GRCm39) E12G probably damaging Het
Frmd7 G A X: 49,984,835 (GRCm39) T445I probably benign Het
Golga4 A G 9: 118,365,953 (GRCm39) E344G probably damaging Het
H2-M10.4 A G 17: 36,772,812 (GRCm39) Y57H probably damaging Het
Hnmt T C 2: 23,909,171 (GRCm39) I81V probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Htra3 C T 5: 35,823,477 (GRCm39) V280I probably damaging Het
Impg2 G T 16: 56,087,485 (GRCm39) E992D probably damaging Het
Kctd4 T C 14: 76,200,418 (GRCm39) W130R possibly damaging Het
Kdm3b T A 18: 34,942,544 (GRCm39) probably null Het
Kmt2d G A 15: 98,759,652 (GRCm39) T1202M unknown Het
Lrp11 A T 10: 7,478,689 (GRCm39) D326V probably damaging Het
Lrrcc1 A T 3: 14,601,144 (GRCm39) I59F probably damaging Het
Lyg2 G A 1: 37,954,845 (GRCm39) probably benign Het
Myo18b G T 5: 113,022,804 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,531,767 (GRCm39) T744A probably damaging Het
Or1e1f T A 11: 73,855,812 (GRCm39) I126N probably damaging Het
Oser1 A T 2: 163,253,309 (GRCm39) probably benign Het
Pcdhgc5 T C 18: 37,952,966 (GRCm39) V80A probably benign Het
Pi4ka C T 16: 17,100,539 (GRCm39) G1857D possibly damaging Het
Pitpnc1 C T 11: 107,228,237 (GRCm39) probably null Het
Pofut2 A G 10: 77,102,844 (GRCm39) E137G probably benign Het
Rgsl1 A T 1: 153,701,687 (GRCm39) W291R probably damaging Het
Rnf113a2 T C 12: 84,465,050 (GRCm39) I314T probably benign Het
Rps2 C T 17: 24,939,263 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,224 (GRCm39) K1148E probably damaging Het
Slc45a2 A G 15: 11,012,741 (GRCm39) D248G probably benign Het
Slit2 G T 5: 48,368,681 (GRCm39) R352L probably damaging Het
Smg1 A G 7: 117,756,404 (GRCm39) probably benign Het
Sycp2 A T 2: 177,994,272 (GRCm39) C1217* probably null Het
Tbcb A G 7: 29,926,261 (GRCm39) probably benign Het
Tinf2 T C 14: 55,918,346 (GRCm39) D128G probably damaging Het
Traf3ip2 A G 10: 39,515,218 (GRCm39) D332G possibly damaging Het
Tram1 A G 1: 13,659,829 (GRCm39) F40L probably benign Het
Trank1 A T 9: 111,196,475 (GRCm39) I1500L probably damaging Het
Wdfy4 G A 14: 32,884,827 (GRCm39) P25L probably benign Het
Wnt5a G T 14: 28,244,882 (GRCm39) Q376H probably damaging Het
Zfp526 A C 7: 24,924,049 (GRCm39) T103P probably benign Het
Other mutations in Med16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Med16 APN 10 79,743,459 (GRCm39) start codon destroyed probably null 0.62
IGL02328:Med16 APN 10 79,743,376 (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 2016-08-02