Incidental Mutation 'IGL03121:Brd8'
ID409983
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? Essential (E-score: 1.000) question?
Stock #IGL03121
Quality Score
Status
Chromosome18
Chromosomal Location34598615-34624601 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34606687 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 678 (F678I)
Ref Sequence ENSEMBL: ENSMUSP00000003876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766]
Predicted Effect probably damaging
Transcript: ENSMUST00000003876
AA Change: F678I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: F678I

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 possibly damaging
Transcript: ENSMUST00000097626
AA Change: F605I

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: F605I

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 benign
Transcript: ENSMUST00000115765
AA Change: F678I

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: F678I

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 benign
Transcript: ENSMUST00000115766
AA Change: F608I

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: F608I

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: ENSMUST00000145431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153569
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,761,650 S4P possibly damaging Het
A2m A G 6: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nkd2 C A 13: 73,821,379 A311S probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Olfr780 A G 10: 129,322,168 I182V probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Ube2q2 A T 9: 55,195,039 probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Wipi2 G A 5: 142,663,102 E252K probably benign 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
IGL02212: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
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 splice site 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
R7876:Brd8 UTSW 18 34606687 missense probably benign 0.00
R8002:Brd8 UTSW 18 34608556 missense probably benign 0.00
R8103:Brd8 UTSW 18 34607178 missense probably benign
R8810:Brd8 UTSW 18 34609949 missense probably benign 0.06
Posted On2016-08-02