Incidental Mutation 'IGL02212:Brd8'
ID285517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brd8
Ensembl Gene ENSMUSG00000003778
Gene Namebromodomain containing 8
Synonyms2610007E11Rik, 4432404P07Rik, SMAP, p120
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock #IGL02212
Quality Score
Status
Chromosome18
Chromosomal Location34598615-34624601 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34602727 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 899 (S899N)
Ref Sequence ENSEMBL: ENSMUSP00000111431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766]
Predicted Effect probably damaging
Transcript: ENSMUST00000003876
AA Change: S899N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: S899N

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
BROMO 778 886 7.59e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097626
AA Change: S826N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: S826N

DomainStartEndE-ValueType
Blast:SANT 15 74 3e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 290 305 N/A INTRINSIC
low complexity region 313 331 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
low complexity region 686 700 N/A INTRINSIC
BROMO 705 813 7.59e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115765
AA Change: S899N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: S899N

DomainStartEndE-ValueType
Blast:SANT 15 74 5e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 339 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 386 404 N/A INTRINSIC
low complexity region 505 516 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
BROMO 778 886 7.59e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115766
AA Change: S829N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: S829N

DomainStartEndE-ValueType
Blast:SANT 15 74 4e-33 BLAST
coiled coil region 97 132 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 323 337 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
BROMO 708 816 7.59e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152612
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Brd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Brd8 APN 18 34609883 nonsense probably null
IGL01734:Brd8 APN 18 34614805 splice site probably benign
IGL02064:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02065:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02067:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02118:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02120:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02121:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02122:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02123:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02125:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02126:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02160:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02163:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02164:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02166:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02211:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02216:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02217:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02219:Brd8 APN 18 34602727 missense probably damaging 1.00
IGL02397:Brd8 APN 18 34604873 missense probably damaging 0.99
IGL02642:Brd8 APN 18 34608064 splice site probably benign
IGL02820:Brd8 APN 18 34607301 missense probably benign 0.01
IGL02942:Brd8 APN 18 34610627 missense possibly damaging 0.92
IGL03121:Brd8 APN 18 34606687 missense probably damaging 0.99
IGL03174:Brd8 APN 18 34604909 missense probably damaging 1.00
IGL03304:Brd8 APN 18 34614580 splice site probably benign
R0226:Brd8 UTSW 18 34603894 splice site probably benign
R1269:Brd8 UTSW 18 34609804 critical splice donor site probably null
R1654:Brd8 UTSW 18 34611226 missense probably damaging 1.00
R1692:Brd8 UTSW 18 34609833 missense probably damaging 0.99
R1714:Brd8 UTSW 18 34609833 missense probably damaging 0.99
R1874:Brd8 UTSW 18 34610474 missense probably damaging 1.00
R1965:Brd8 UTSW 18 34602766 missense probably damaging 1.00
R1973:Brd8 UTSW 18 34608013 missense probably damaging 1.00
R2069:Brd8 UTSW 18 34614479 missense probably damaging 1.00
R3952:Brd8 UTSW 18 34614444 splice site probably benign
R4411:Brd8 UTSW 18 34623444 unclassified probably benign
R4634:Brd8 UTSW 18 34608484 missense possibly damaging 0.78
R4650:Brd8 UTSW 18 34606699 missense probably benign 0.06
R4919:Brd8 UTSW 18 34607436 missense probably damaging 0.99
R4925:Brd8 UTSW 18 34607335 missense probably benign 0.02
R4948:Brd8 UTSW 18 34614532 missense probably damaging 1.00
R5328:Brd8 UTSW 18 34607981 missense probably benign 0.29
R5489:Brd8 UTSW 18 34608645 intron probably null
R5841:Brd8 UTSW 18 34605523 missense probably damaging 1.00
R6306:Brd8 UTSW 18 34611251 missense probably damaging 0.97
R6320:Brd8 UTSW 18 34613239 missense possibly damaging 0.68
R6808:Brd8 UTSW 18 34608475 missense probably damaging 0.98
R7149:Brd8 UTSW 18 34604597 critical splice donor site probably null
Posted On2015-04-16