Incidental Mutation 'IGL02064:Brd8'
ID 185550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brd8
Ensembl Gene ENSMUSG00000003778
Gene Name bromodomain containing 8
Synonyms 2610007E11Rik, SMAP, 4432404P07Rik, p120
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02064
Quality Score
Status
Chromosome 18
Chromosomal Location 34731668-34757654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34735780 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R3B7
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Brd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Brd8 APN 18 34,742,936 (GRCm39) nonsense probably null
IGL01734:Brd8 APN 18 34,747,858 (GRCm39) splice site probably benign
IGL02065:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02067:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02118:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02120:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02121:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02122:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02123:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02125:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02126:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02160:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02163:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02164:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02166:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02211:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02212:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02216:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02217:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02219:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
IGL02397:Brd8 APN 18 34,737,926 (GRCm39) missense probably damaging 0.99
IGL02642:Brd8 APN 18 34,741,117 (GRCm39) splice site probably benign
IGL02820:Brd8 APN 18 34,740,354 (GRCm39) missense probably benign 0.01
IGL02942:Brd8 APN 18 34,743,680 (GRCm39) missense possibly damaging 0.92
IGL03121:Brd8 APN 18 34,739,740 (GRCm39) missense probably damaging 0.99
IGL03174:Brd8 APN 18 34,737,962 (GRCm39) missense probably damaging 1.00
IGL03304:Brd8 APN 18 34,747,633 (GRCm39) splice site probably benign
R0226:Brd8 UTSW 18 34,736,947 (GRCm39) splice site probably benign
R1269:Brd8 UTSW 18 34,742,857 (GRCm39) critical splice donor site probably null
R1654:Brd8 UTSW 18 34,744,279 (GRCm39) missense probably damaging 1.00
R1692:Brd8 UTSW 18 34,742,886 (GRCm39) missense probably damaging 0.99
R1714:Brd8 UTSW 18 34,742,886 (GRCm39) missense probably damaging 0.99
R1874:Brd8 UTSW 18 34,743,527 (GRCm39) missense probably damaging 1.00
R1965:Brd8 UTSW 18 34,735,819 (GRCm39) missense probably damaging 1.00
R1973:Brd8 UTSW 18 34,741,066 (GRCm39) missense probably damaging 1.00
R2069:Brd8 UTSW 18 34,747,532 (GRCm39) missense probably damaging 1.00
R3952:Brd8 UTSW 18 34,747,497 (GRCm39) splice site probably benign
R4411:Brd8 UTSW 18 34,756,497 (GRCm39) unclassified probably benign
R4634:Brd8 UTSW 18 34,741,537 (GRCm39) missense possibly damaging 0.78
R4650:Brd8 UTSW 18 34,739,752 (GRCm39) missense probably benign 0.06
R4919:Brd8 UTSW 18 34,740,489 (GRCm39) missense probably damaging 0.99
R4925:Brd8 UTSW 18 34,740,388 (GRCm39) missense probably benign 0.02
R4948:Brd8 UTSW 18 34,747,585 (GRCm39) missense probably damaging 1.00
R5328:Brd8 UTSW 18 34,741,034 (GRCm39) missense probably benign 0.29
R5489:Brd8 UTSW 18 34,741,698 (GRCm39) splice site probably null
R5841:Brd8 UTSW 18 34,738,576 (GRCm39) missense probably damaging 1.00
R6306:Brd8 UTSW 18 34,744,304 (GRCm39) missense probably damaging 0.97
R6320:Brd8 UTSW 18 34,746,292 (GRCm39) missense possibly damaging 0.68
R6808:Brd8 UTSW 18 34,741,528 (GRCm39) missense probably damaging 0.98
R7149:Brd8 UTSW 18 34,737,650 (GRCm39) critical splice donor site probably null
R7876:Brd8 UTSW 18 34,739,740 (GRCm39) missense probably benign 0.00
R8002:Brd8 UTSW 18 34,741,609 (GRCm39) missense probably benign 0.00
R8103:Brd8 UTSW 18 34,740,231 (GRCm39) missense probably benign
R8810:Brd8 UTSW 18 34,743,002 (GRCm39) missense probably benign 0.06
Posted On 2014-05-07