Incidental Mutation 'IGL03123:Med16'
ID410056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med16
Ensembl Gene ENSMUSG00000013833
Gene Namemediator complex subunit 16
SynonymsTrap95, 95kDa, Thrap5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.829) question?
Stock #IGL03123
Quality Score
Status
Chromosome10
Chromosomal Location79894708-79908923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79896833 bp
ZygosityHeterozygous
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]
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: 49,073,761 V96A probably damaging Het
Atp10b T C 11: 43,153,283 V112A probably benign Het
Caprin2 G T 6: 148,895,007 A36E probably damaging Het
Dnase1l2 T C 17: 24,442,252 M28V possibly damaging Het
Eci1 T A 17: 24,436,326 probably null Het
Edil3 T A 13: 89,131,736 S178T probably damaging Het
Epha5 A G 5: 84,331,226 probably null Het
Exoc3l4 A G 12: 111,422,113 E12G probably damaging Het
Frmd7 G A X: 50,895,958 T445I probably benign Het
Gatsl3 A T 11: 4,220,278 T119S probably damaging Het
Golga4 A G 9: 118,536,885 E344G probably damaging Het
H2-M10.4 A G 17: 36,461,920 Y57H probably damaging Het
Hnmt T C 2: 24,019,159 I81V probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Htra3 C T 5: 35,666,133 V280I probably damaging Het
Impg2 G T 16: 56,267,122 E992D probably damaging Het
Kctd4 T C 14: 75,962,978 W130R possibly damaging Het
Kdm3b T A 18: 34,809,491 probably null Het
Kmt2d G A 15: 98,861,771 T1202M unknown Het
Lrp11 A T 10: 7,602,925 D326V probably damaging Het
Lrrcc1 A T 3: 14,536,084 I59F probably damaging Het
Lyg2 G A 1: 37,915,764 probably benign Het
Myo18b G T 5: 112,874,938 probably benign Het
Nrxn2 A G 19: 6,481,737 T744A probably damaging Het
Olfr397 T A 11: 73,964,986 I126N probably damaging Het
Oser1 A T 2: 163,411,389 probably benign Het
Pcdhgc5 T C 18: 37,819,913 V80A probably benign Het
Pi4ka C T 16: 17,282,675 G1857D possibly damaging Het
Pitpnc1 C T 11: 107,337,411 probably null Het
Pofut2 A G 10: 77,267,010 E137G probably benign Het
Rgsl1 A T 1: 153,825,941 W291R probably damaging Het
Rnf113a2 T C 12: 84,418,276 I314T probably benign Het
Rps2 C T 17: 24,720,289 probably benign Het
Setbp1 T C 18: 78,857,009 K1148E probably damaging Het
Slc45a2 A G 15: 11,012,655 D248G probably benign Het
Slit2 G T 5: 48,211,339 R352L probably damaging Het
Smg1 A G 7: 118,157,181 probably benign Het
Sycp2 A T 2: 178,352,479 C1217* probably null Het
Tbcb A G 7: 30,226,836 probably benign Het
Tinf2 T C 14: 55,680,889 D128G probably damaging Het
Traf3ip2 A G 10: 39,639,222 D332G possibly damaging Het
Tram1 A G 1: 13,589,605 F40L probably benign Het
Trank1 A T 9: 111,367,407 I1500L probably damaging Het
Wdfy4 G A 14: 33,162,870 P25L probably benign Het
Wnt5a G T 14: 28,522,925 Q376H probably damaging Het
Zfp526 A C 7: 25,224,624 T103P probably benign Het
Other mutations in Med16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Med16 APN 10 79907625 start codon destroyed probably null 0.62
IGL02328:Med16 APN 10 79907542 missense probably damaging 1.00
R0139:Med16 UTSW 10 79896801 missense probably benign 0.17
R0254:Med16 UTSW 10 79900200 missense possibly damaging 0.94
R1458:Med16 UTSW 10 79907478 unclassified probably benign
R1483:Med16 UTSW 10 79903100 missense possibly damaging 0.88
R1524:Med16 UTSW 10 79898316 missense probably damaging 1.00
R1612:Med16 UTSW 10 79899245 missense probably damaging 1.00
R1700:Med16 UTSW 10 79899335 missense probably benign 0.10
R1900:Med16 UTSW 10 79898931 missense probably damaging 1.00
R1960:Med16 UTSW 10 79907095 missense possibly damaging 0.94
R2120:Med16 UTSW 10 79903082 missense possibly damaging 0.63
R2895:Med16 UTSW 10 79903171 unclassified probably null
R4419:Med16 UTSW 10 79898382 missense probably benign
R4794:Med16 UTSW 10 79900117 missense probably damaging 1.00
R4970:Med16 UTSW 10 79907037 critical splice donor site probably null
R4975:Med16 UTSW 10 79903005 missense possibly damaging 0.93
R5724:Med16 UTSW 10 79895409 missense probably damaging 1.00
R5926:Med16 UTSW 10 79902528 missense probably damaging 0.99
R6185:Med16 UTSW 10 79896363 missense probably damaging 1.00
R7097:Med16 UTSW 10 79903343 missense probably damaging 1.00
Posted On2016-08-02