Incidental Mutation 'IGL02216:Brd8'
ID 284873
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 # IGL02216
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G 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
IGL02064:Brd8 APN 18 34,735,780 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16