Incidental Mutation 'R3809:Brd4'
ID 275133
Institutional Source Beutler Lab
Gene Symbol Brd4
Ensembl Gene ENSMUSG00000024002
Gene Name bromodomain containing 4
Synonyms WI-11513, HUNK1, MCAP
MMRRC Submission 040766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3809 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32415248-32503696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32430244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 686 (K686N)
Ref Sequence ENSEMBL: ENSMUSP00000113070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003726] [ENSMUST00000114475] [ENSMUST00000119123] [ENSMUST00000120276] [ENSMUST00000121285] [ENSMUST00000125899] [ENSMUST00000127893]
AlphaFold Q9ESU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000003726
AA Change: K687N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: K687N

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 possibly damaging
Transcript: ENSMUST00000114475
AA Change: K686N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110119
Gene: ENSMUSG00000024002
AA Change: K686N

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 3e-46 PDB
low complexity region 700 720 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119123
AA Change: K686N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: K686N

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 possibly damaging
Transcript: ENSMUST00000120276
AA Change: K686N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: K686N

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 3e-46 PDB
low complexity region 700 721 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121285
AA Change: K686N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: K686N

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 probably benign
Transcript: ENSMUST00000125899
SMART Domains Protein: ENSMUSP00000115277
Gene: ENSMUSG00000024002

DomainStartEndE-ValueType
low complexity region 23 54 N/A INTRINSIC
BROMO 56 144 5.02e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127893
SMART Domains Protein: ENSMUSP00000115163
Gene: ENSMUSG00000024002

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 503 531 N/A INTRINSIC
low complexity region 536 557 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,650 (GRCm39) Y105C possibly damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Apol7e A T 15: 77,602,262 (GRCm39) T287S probably benign Het
Arhgap12 A T 18: 6,037,057 (GRCm39) N561K probably benign Het
Armc3 G T 2: 19,305,476 (GRCm39) A757S probably damaging Het
Baz2b A T 2: 59,799,240 (GRCm39) S295T probably benign Het
Btnl6 T C 17: 34,727,202 (GRCm39) T443A probably benign Het
Cacna1g T C 11: 94,306,922 (GRCm39) T1801A probably damaging Het
Celsr2 G A 3: 108,310,555 (GRCm39) T1509I possibly damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Cog1 G T 11: 113,545,836 (GRCm39) M370I probably benign Het
Col6a6 C G 9: 105,657,891 (GRCm39) V774L probably damaging Het
Csf1r T A 18: 61,245,836 (GRCm39) S264R probably benign Het
Ctnna2 A T 6: 76,931,740 (GRCm39) V620D probably damaging Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Frmd4b G A 6: 97,300,690 (GRCm39) L214F possibly damaging Het
Fstl1 T A 16: 37,647,113 (GRCm39) L161Q probably damaging Het
Hdac1 A G 4: 129,418,113 (GRCm39) F94S probably damaging Het
Hlf T C 11: 90,278,929 (GRCm39) D45G probably benign Het
Hps3 A T 3: 20,072,976 (GRCm39) M501K probably damaging Het
Ighv14-4 A G 12: 114,140,174 (GRCm39) Y79H probably damaging Het
Ip6k1 T A 9: 107,923,086 (GRCm39) V406D probably damaging Het
Iqcf1 T C 9: 106,379,077 (GRCm39) S29P probably benign Het
Itga11 A G 9: 62,678,664 (GRCm39) T944A probably benign Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Kmt2c T C 5: 25,614,136 (GRCm39) R195G possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Neb A G 2: 52,146,801 (GRCm39) I2821T possibly damaging Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or2a25 A T 6: 42,889,271 (GRCm39) K271N probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Or56b1 A T 7: 104,285,540 (GRCm39) I220L possibly damaging Het
Or8b3b C T 9: 38,584,159 (GRCm39) V207I probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Pfdn1 C T 18: 36,584,145 (GRCm39) G63D probably damaging Het
Pgghg T C 7: 140,525,208 (GRCm39) F405L probably damaging Het
Plcd3 T C 11: 102,992,209 (GRCm39) M50V probably null Het
Plekha8 C A 6: 54,596,334 (GRCm39) S198R probably benign Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rnf217 T A 10: 31,379,804 (GRCm39) I473F possibly damaging Het
Sec16a G C 2: 26,331,825 (GRCm39) N63K possibly damaging Het
Sik3 A G 9: 46,130,784 (GRCm39) D1240G probably benign Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc2a3 A G 6: 122,709,388 (GRCm39) I337T probably benign Het
Tent4a A G 13: 69,661,115 (GRCm39) V51A probably damaging Het
Tinag C T 9: 76,859,187 (GRCm39) D474N probably benign Het
Ublcp1 A G 11: 44,349,109 (GRCm39) F242L probably benign Het
Ucp1 C A 8: 84,017,270 (GRCm39) A20D probably damaging Het
Ugt1a7c C T 1: 88,023,104 (GRCm39) R88W possibly damaging Het
Wipf3 A G 6: 54,458,780 (GRCm39) D45G probably damaging Het
Zfp592 G A 7: 80,674,280 (GRCm39) A415T 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
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
R4923:Brd4 UTSW 17 32,418,214 (GRCm39) missense probably benign 0.38
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'- TCAACTCTGGGCTGGACAAAG -3'
(R):5'- AATACACTGTGGCGAGCAG -3'

Sequencing Primer
(F):5'- CTCTGGGCTGGACAAAGGACTG -3'
(R):5'- GGTTGGTAGGTGGGAATACAC -3'
Posted On 2015-04-02