Incidental Mutation 'IGL03174:Brd8'
ID 411940
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 # IGL03174
Quality Score
Status
Chromosome 18
Chromosomal Location 34731668-34757654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34737962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 774 (E774G)
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: E774G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: E774G

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: E701G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: E701G

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: E774G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: E774G

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: E704G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: E704G

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,877,752 (GRCm39) L703P probably benign Het
Abi3bp A G 16: 56,435,110 (GRCm39) K602R possibly damaging Het
Ank2 T C 3: 126,733,744 (GRCm39) D622G probably damaging Het
Bpifb1 T A 2: 154,054,969 (GRCm39) L287Q probably damaging Het
Cnot1 A G 8: 96,487,983 (GRCm39) S558P probably damaging Het
Col15a1 T C 4: 47,282,666 (GRCm39) I781T probably damaging Het
Cyp2j7 T A 4: 96,083,607 (GRCm39) R448* probably null Het
Dgkb A T 12: 38,266,053 (GRCm39) I511F possibly damaging Het
Fam221b T C 4: 43,666,542 (GRCm39) E23G probably benign Het
Gm17067 C A 7: 42,360,100 (GRCm39) probably null Het
Grin3a T A 4: 49,771,107 (GRCm39) D555V probably damaging Het
Hid1 T C 11: 115,251,215 (GRCm39) Y107C probably damaging Het
Kcnd2 A G 6: 21,216,515 (GRCm39) D73G possibly damaging Het
Kit A G 5: 75,767,773 (GRCm39) D52G probably benign Het
Llgl1 G T 11: 60,597,036 (GRCm39) R189L probably benign Het
Lrp2 T A 2: 69,296,609 (GRCm39) D3315V probably damaging Het
Map3k8 A G 18: 4,349,247 (GRCm39) S24P probably damaging Het
Nckap5 A G 1: 125,909,383 (GRCm39) L1616P probably damaging Het
Nrcam A G 12: 44,622,789 (GRCm39) probably benign Het
Or2d2b A T 7: 106,705,477 (GRCm39) M197K probably benign Het
Or5b119 A G 19: 13,457,433 (GRCm39) M43T probably benign Het
Polr1a G A 6: 71,954,331 (GRCm39) R1595H possibly damaging Het
Pramel29 C T 4: 143,935,000 (GRCm39) S247N probably benign Het
Rusc1 T C 3: 88,999,077 (GRCm39) D235G probably damaging Het
Serpinb6e A T 13: 34,020,463 (GRCm39) I215N probably damaging Het
Sfrp4 A T 13: 19,816,377 (GRCm39) Q137L probably benign Het
Spata31g1 T C 4: 42,970,975 (GRCm39) Y67H probably benign Het
Vmn2r2 C T 3: 64,024,544 (GRCm39) W679* probably null Het
Vps8 T A 16: 21,285,213 (GRCm39) L398H probably damaging Het
Zfp709 A T 8: 72,642,870 (GRCm39) T99S 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
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
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 2016-08-02