Incidental Mutation 'IGL02121:Brd8'
ID 280590
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 # IGL02121
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,159,038 (GRCm39) V122D unknown Het
4930579F01Rik T G 3: 137,870,134 (GRCm39) Y199S possibly damaging Het
Abca6 T A 11: 110,073,750 (GRCm39) I1434F probably benign Het
Acsm1 T C 7: 119,257,635 (GRCm39) V467A possibly damaging Het
Alg3 T C 16: 20,425,285 (GRCm39) T260A possibly damaging Het
Aoc1 A G 6: 48,883,254 (GRCm39) probably null Het
Ap5b1 C T 19: 5,620,815 (GRCm39) T745I possibly damaging Het
Atp6v1c2 T G 12: 17,341,441 (GRCm39) K272Q possibly damaging Het
Cert1 T G 13: 96,735,982 (GRCm39) Y181D probably benign Het
Clcn7 C T 17: 25,372,058 (GRCm39) A426V possibly damaging Het
Clec14a T C 12: 58,315,223 (GRCm39) E133G probably damaging Het
Dst T A 1: 34,267,738 (GRCm39) V2720E probably damaging Het
Efr3a C T 15: 65,742,999 (GRCm39) probably benign Het
Fam83g T C 11: 61,575,609 (GRCm39) S84P probably benign Het
Gm7251 T C 13: 49,959,382 (GRCm39) noncoding transcript Het
Gnptab T G 10: 88,265,323 (GRCm39) S312A possibly damaging Het
Grap2 C A 15: 80,532,076 (GRCm39) S230R possibly damaging Het
Grm6 T A 11: 50,750,483 (GRCm39) C549S probably damaging Het
Gtf3c1 A T 7: 125,245,903 (GRCm39) L1504* probably null Het
Iars1 A G 13: 49,878,172 (GRCm39) M899V probably benign Het
Il1rl1 T A 1: 40,481,463 (GRCm39) probably benign Het
Kcna4 T C 2: 107,126,963 (GRCm39) Y566H possibly damaging Het
Kcnn2 T C 18: 45,694,340 (GRCm39) I175T probably damaging Het
Kcnt1 C T 2: 25,791,877 (GRCm39) T609I probably damaging Het
Kif3b A G 2: 153,159,194 (GRCm39) R332G probably damaging Het
Mansc1 T C 6: 134,598,800 (GRCm39) D39G probably damaging Het
Med12 T C X: 100,331,948 (GRCm39) probably benign Het
Mmp1b G T 9: 7,384,935 (GRCm39) T238K probably benign Het
Nav3 A G 10: 109,594,897 (GRCm39) S1435P probably damaging Het
Npc1l1 A G 11: 6,178,157 (GRCm39) S418P probably benign Het
Or14j1 T C 17: 38,146,832 (GRCm39) V314A probably benign Het
Or2ab1 T C 11: 58,488,408 (GRCm39) V62A possibly damaging Het
Or3a1b A G 11: 74,012,113 (GRCm39) probably benign Het
Or52a24 A G 7: 103,381,676 (GRCm39) Y181C probably damaging Het
Or52h1 A C 7: 103,829,432 (GRCm39) M61R probably damaging Het
Or6ae1 G T 7: 139,742,607 (GRCm39) D85E probably benign Het
Or8b3b T C 9: 38,584,711 (GRCm39) T23A probably damaging Het
Otoa A G 7: 120,721,247 (GRCm39) T421A probably benign Het
Otulin G A 15: 27,608,823 (GRCm39) A42V probably damaging Het
Pcdhb1 T A 18: 37,398,838 (GRCm39) V263E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Phip A T 9: 82,775,423 (GRCm39) V1053D probably damaging Het
Pkd1 G A 17: 24,794,901 (GRCm39) R2196H probably benign Het
Plin4 T A 17: 56,409,131 (GRCm39) Q1363L probably damaging Het
Pp2d1 C A 17: 53,814,949 (GRCm39) V592L probably damaging Het
Pramel51 T C 12: 88,145,242 (GRCm39) D28G possibly damaging Het
Prkdc T G 16: 15,535,048 (GRCm39) M1649R probably benign Het
Ptk2b T C 14: 66,450,931 (GRCm39) K12E probably benign Het
Rars2 G A 4: 34,657,219 (GRCm39) V522I probably damaging Het
Rpgrip1 T A 14: 52,384,831 (GRCm39) N646K possibly damaging Het
Sars2 A G 7: 28,451,950 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,316 (GRCm39) T227A possibly damaging Het
Smc1b T C 15: 84,982,186 (GRCm39) T703A probably benign Het
Stk32a G T 18: 43,446,572 (GRCm39) D341Y probably benign Het
Thap11 T C 8: 106,582,546 (GRCm39) V185A possibly damaging Het
Ttll10 C A 4: 156,132,890 (GRCm39) V65F probably benign Het
Ube2q1 T A 3: 89,687,769 (GRCm39) N111K possibly damaging Het
Upf2 C A 2: 6,031,134 (GRCm39) probably benign Het
Utp25 A T 1: 192,800,586 (GRCm39) D411E probably benign Het
Vasp T A 7: 18,991,637 (GRCm39) probably benign Het
Vmn2r104 C T 17: 20,262,056 (GRCm39) W358* probably null Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wdfy3 C T 5: 102,046,376 (GRCm39) G1826R possibly damaging Het
Wdr7 T A 18: 63,910,616 (GRCm39) Y669* probably null Het
Wdr72 T A 9: 74,189,011 (GRCm39) 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
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 2015-04-16