Incidental Mutation 'R4923:Brd4'
ID 378824
Institutional Source Beutler Lab
Gene Symbol Brd4
Ensembl Gene ENSMUSG00000024002
Gene Name bromodomain containing 4
Synonyms WI-11513, HUNK1, MCAP
MMRRC Submission 042525-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4923 (G1)
Quality Score 204
Status Validated
Chromosome 17
Chromosomal Location 32415248-32503696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32418214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 13 (M13T)
Ref Sequence ENSEMBL: ENSMUSP00000155477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003726] [ENSMUST00000119123] [ENSMUST00000121285] [ENSMUST00000230858]
AlphaFold Q9ESU6
Predicted Effect unknown
Transcript: ENSMUST00000003726
AA Change: M1071T
SMART Domains Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: M1071T

DomainStartEndE-ValueType
low complexity region 23 54 N/A INTRINSIC
BROMO 56 166 1e-52 SMART
low complexity region 176 191 N/A INTRINSIC
low complexity region 198 224 N/A INTRINSIC
low complexity region 237 275 N/A INTRINSIC
low complexity region 295 305 N/A INTRINSIC
low complexity region 329 339 N/A INTRINSIC
BROMO 352 461 1.2e-48 SMART
coiled coil region 504 570 N/A INTRINSIC
Pfam:BET 611 675 6.4e-33 PFAM
low complexity region 701 722 N/A INTRINSIC
low complexity region 746 796 N/A INTRINSIC
low complexity region 828 854 N/A INTRINSIC
low complexity region 890 926 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
low complexity region 953 1005 N/A INTRINSIC
low complexity region 1013 1042 N/A INTRINSIC
low complexity region 1086 1100 N/A INTRINSIC
low complexity region 1105 1120 N/A INTRINSIC
low complexity region 1135 1147 N/A INTRINSIC
low complexity region 1201 1212 N/A INTRINSIC
low complexity region 1248 1260 N/A INTRINSIC
coiled coil region 1261 1345 N/A INTRINSIC
Pfam:BRD4_CDT 1358 1400 3.8e-24 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000119123
AA Change: M1070T
SMART Domains Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: M1070T

DomainStartEndE-ValueType
low complexity region 23 54 N/A INTRINSIC
BROMO 56 166 1.67e-50 SMART
low complexity region 197 223 N/A INTRINSIC
low complexity region 236 274 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
BROMO 351 460 1.81e-46 SMART
coiled coil region 503 569 N/A INTRINSIC
PDB:2JNS|A 606 683 6e-46 PDB
low complexity region 700 721 N/A INTRINSIC
low complexity region 745 795 N/A INTRINSIC
low complexity region 827 853 N/A INTRINSIC
low complexity region 889 925 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 952 1004 N/A INTRINSIC
low complexity region 1012 1041 N/A INTRINSIC
low complexity region 1085 1099 N/A INTRINSIC
low complexity region 1104 1119 N/A INTRINSIC
low complexity region 1134 1146 N/A INTRINSIC
low complexity region 1200 1211 N/A INTRINSIC
low complexity region 1247 1259 N/A INTRINSIC
coiled coil region 1260 1344 N/A INTRINSIC
low complexity region 1361 1381 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121285
AA Change: M1070T
SMART Domains Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: M1070T

DomainStartEndE-ValueType
low complexity region 23 54 N/A INTRINSIC
BROMO 56 166 1.67e-50 SMART
low complexity region 197 223 N/A INTRINSIC
low complexity region 236 274 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
BROMO 351 460 1.81e-46 SMART
coiled coil region 503 569 N/A INTRINSIC
PDB:2JNS|A 606 683 6e-46 PDB
low complexity region 700 721 N/A INTRINSIC
low complexity region 745 795 N/A INTRINSIC
low complexity region 827 853 N/A INTRINSIC
low complexity region 889 925 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 952 1004 N/A INTRINSIC
low complexity region 1012 1041 N/A INTRINSIC
low complexity region 1085 1099 N/A INTRINSIC
low complexity region 1104 1119 N/A INTRINSIC
low complexity region 1134 1146 N/A INTRINSIC
low complexity region 1200 1211 N/A INTRINSIC
low complexity region 1247 1259 N/A INTRINSIC
coiled coil region 1260 1344 N/A INTRINSIC
low complexity region 1361 1381 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230565
Predicted Effect probably benign
Transcript: ENSMUST00000230858
AA Change: M13T

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1246 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
MGI Phenotype FUNCTION: This gene was temporarily named bromodomain-containing 5 (Brd5) and was renamed bromodomain-containing 4 (Brd4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene-trap null mutation die soon after implantation. Heterozygotes exhibit impaired pre- and postnatal growth, head malformations, lack of subcutaneous fat, cataracts, and abnormal liver cells. [provided by MGI curators]
Allele List at MGI

All alleles(161) : Targeted(1) Gene trapped(160)

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elapor1 C T 3: 108,379,284 (GRCm39) probably null Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Odad2 C G 18: 7,181,787 (GRCm39) D846H probably damaging Het
Or12j3 G T 7: 139,952,920 (GRCm39) T201K probably benign Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Slc39a2 G A 14: 52,132,711 (GRCm39) G218D probably damaging Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vit T A 17: 78,894,270 (GRCm39) M224K probably benign Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A probably benign Het
Other mutations in Brd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Brd4 APN 17 32,417,649 (GRCm39) splice site probably benign
IGL01758:Brd4 APN 17 32,431,803 (GRCm39) unclassified probably benign
IGL02750:Brd4 APN 17 32,417,353 (GRCm39) unclassified probably benign
IGL03066:Brd4 APN 17 32,418,062 (GRCm39) intron probably benign
IGL03338:Brd4 APN 17 32,432,046 (GRCm39) missense probably damaging 1.00
Admirable UTSW 17 32,444,557 (GRCm39) missense unknown
H8562:Brd4 UTSW 17 32,448,377 (GRCm39) splice site probably benign
P0035:Brd4 UTSW 17 32,431,812 (GRCm39) critical splice donor site probably null
R0243:Brd4 UTSW 17 32,443,097 (GRCm39) missense probably benign 0.15
R0281:Brd4 UTSW 17 32,432,514 (GRCm39) unclassified probably benign
R0331:Brd4 UTSW 17 32,421,489 (GRCm39) missense probably benign 0.01
R0722:Brd4 UTSW 17 32,431,956 (GRCm39) missense possibly damaging 0.76
R0750:Brd4 UTSW 17 32,439,226 (GRCm39) missense probably benign 0.09
R1544:Brd4 UTSW 17 32,417,646 (GRCm39) splice site probably benign
R1920:Brd4 UTSW 17 32,417,060 (GRCm39) unclassified probably benign
R1922:Brd4 UTSW 17 32,417,060 (GRCm39) unclassified probably benign
R1957:Brd4 UTSW 17 32,440,340 (GRCm39) missense possibly damaging 0.50
R2240:Brd4 UTSW 17 32,432,613 (GRCm39) unclassified probably benign
R2316:Brd4 UTSW 17 32,431,884 (GRCm39) missense probably benign 0.03
R2333:Brd4 UTSW 17 32,440,431 (GRCm39) missense probably damaging 0.97
R3809:Brd4 UTSW 17 32,430,244 (GRCm39) missense possibly damaging 0.72
R4273:Brd4 UTSW 17 32,433,756 (GRCm39) missense probably benign
R4595:Brd4 UTSW 17 32,417,896 (GRCm39) missense probably damaging 0.97
R4854:Brd4 UTSW 17 32,439,211 (GRCm39) missense probably damaging 0.96
R5014:Brd4 UTSW 17 32,417,372 (GRCm39) unclassified probably benign
R5757:Brd4 UTSW 17 32,420,272 (GRCm39) unclassified probably benign
R5979:Brd4 UTSW 17 32,417,700 (GRCm39) missense probably benign 0.32
R6212:Brd4 UTSW 17 32,421,423 (GRCm39) missense probably damaging 0.98
R6394:Brd4 UTSW 17 32,443,121 (GRCm39) nonsense probably null
R6643:Brd4 UTSW 17 32,417,470 (GRCm39) missense unknown
R7024:Brd4 UTSW 17 32,440,884 (GRCm39) utr 3 prime probably benign
R7033:Brd4 UTSW 17 32,417,989 (GRCm39) missense probably benign 0.13
R7220:Brd4 UTSW 17 32,444,557 (GRCm39) missense unknown
R7682:Brd4 UTSW 17 32,420,134 (GRCm39) missense unknown
R7731:Brd4 UTSW 17 32,430,198 (GRCm39) missense possibly damaging 0.73
R7732:Brd4 UTSW 17 32,440,386 (GRCm39) missense unknown
R7750:Brd4 UTSW 17 32,432,521 (GRCm39) missense unknown
R7756:Brd4 UTSW 17 32,417,956 (GRCm39) missense unknown
R7758:Brd4 UTSW 17 32,417,956 (GRCm39) missense unknown
R7779:Brd4 UTSW 17 32,431,910 (GRCm39) missense probably benign 0.03
R8214:Brd4 UTSW 17 32,431,921 (GRCm39) missense probably benign 0.19
R8405:Brd4 UTSW 17 32,448,505 (GRCm39) missense unknown
R9675:Brd4 UTSW 17 32,433,786 (GRCm39) missense unknown
X0064:Brd4 UTSW 17 32,420,101 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTTACTACCACCAGGGGCTG -3'
(R):5'- CCCCAGTTATAGTAGATACTGTAGG -3'

Sequencing Primer
(F):5'- ACTGAAGGTGGTCGCAGCTC -3'
(R):5'- GATACTGTAGGTTTTCATCCTTTCAG -3'
Posted On 2016-04-15