Incidental Mutation 'IGL02217:Brd8'
ID 284935
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 # IGL02217
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign 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
IGL02216: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