Incidental Mutation 'R1957:Brd4'
ID 217974
Institutional Source Beutler Lab
Gene Symbol Brd4
Ensembl Gene ENSMUSG00000024002
Gene Name bromodomain containing 4
Synonyms WI-11513, HUNK1, MCAP
MMRRC Submission 039971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1957 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32415248-32503696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32440340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 332 (P332L)
Ref Sequence ENSEMBL: ENSMUSP00000115163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003726] [ENSMUST00000114475] [ENSMUST00000119123] [ENSMUST00000120276] [ENSMUST00000121285] [ENSMUST00000125899] [ENSMUST00000127893]
AlphaFold Q9ESU6
Predicted Effect unknown
Transcript: ENSMUST00000003726
AA Change: P333L
SMART Domains Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: P333L

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: ENSMUST00000114475
AA Change: P332L
SMART Domains Protein: ENSMUSP00000110119
Gene: ENSMUSG00000024002
AA Change: P332L

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 unknown
Transcript: ENSMUST00000119123
AA Change: P332L
SMART Domains Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: P332L

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: ENSMUST00000120276
AA Change: P332L
SMART Domains Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: P332L

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 unknown
Transcript: ENSMUST00000121285
AA Change: P332L
SMART Domains Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: P332L

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 possibly damaging
Transcript: ENSMUST00000127893
AA Change: P332L

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115163
Gene: ENSMUSG00000024002
AA Change: P332L

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
Meta Mutation Damage Score 0.1875 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (117/121)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,068 (GRCm39) probably benign Het
Aadacl4fm5 G A 4: 144,504,389 (GRCm39) T254I possibly damaging Het
Abce1 A G 8: 80,412,578 (GRCm39) I583T probably benign Het
Abtb3 T C 10: 85,469,563 (GRCm39) L828P probably damaging Het
Adcy1 A T 11: 7,111,945 (GRCm39) T937S probably benign Het
Adgra2 A G 8: 27,601,196 (GRCm39) I279V possibly damaging Het
Adgrl4 A T 3: 151,216,416 (GRCm39) N533I possibly damaging Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Amelx A T X: 167,965,153 (GRCm39) probably null Het
Anks1b A T 10: 89,885,792 (GRCm39) T163S probably damaging Het
Apc A G 18: 34,450,388 (GRCm39) E2394G probably damaging Het
Arhgef39 C T 4: 43,499,309 (GRCm39) G56E probably damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Arsj A G 3: 126,232,670 (GRCm39) N472S probably benign Het
Atg2b T C 12: 105,635,677 (GRCm39) Y197C probably damaging Het
B3gat1 A T 9: 26,667,248 (GRCm39) D160V possibly damaging Het
Bmp7 T C 2: 172,781,714 (GRCm39) E50G probably damaging Het
Bms1 T C 6: 118,369,939 (GRCm39) E869G probably damaging Het
C130074G19Rik T C 1: 184,615,095 (GRCm39) T32A probably benign Het
C1rl A T 6: 124,486,021 (GRCm39) Y464F probably damaging Het
Ccdc150 T A 1: 54,303,068 (GRCm39) M193K probably benign Het
Ccdc7a A G 8: 129,706,616 (GRCm39) S338P probably damaging Het
Cenpu T C 8: 47,025,872 (GRCm39) probably benign Het
Cep170 A C 1: 176,597,013 (GRCm39) V448G probably benign Het
Col27a1 G T 4: 63,196,031 (GRCm39) A879S probably benign Het
Crtac1 C T 19: 42,276,383 (GRCm39) S515N possibly damaging Het
Cstad G A 2: 30,498,293 (GRCm39) V43M unknown Het
Daam1 T C 12: 72,029,529 (GRCm39) probably null Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dsg3 A G 18: 20,655,162 (GRCm39) N153S probably damaging Het
Dzip3 C A 16: 48,747,956 (GRCm39) L1151F probably damaging Het
Eml5 A T 12: 98,826,220 (GRCm39) H644Q probably damaging Het
Emsy A G 7: 98,297,027 (GRCm39) L52P probably damaging Het
Eno1 T A 4: 150,331,232 (GRCm39) probably null Het
Epha3 T A 16: 63,593,315 (GRCm39) T258S probably benign Het
Ern1 T C 11: 106,317,723 (GRCm39) T134A probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fam151b T A 13: 92,614,411 (GRCm39) T26S probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Fbn1 T C 2: 125,209,574 (GRCm39) N930S possibly damaging Het
Fgr A G 4: 132,725,673 (GRCm39) M361V probably benign Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Fndc7 G A 3: 108,790,825 (GRCm39) T67I probably damaging Het
Fxr2 A G 11: 69,534,766 (GRCm39) T216A probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm42669 A T 5: 107,656,738 (GRCm39) E355D possibly damaging Het
Gm5174 A T 10: 86,492,617 (GRCm39) noncoding transcript Het
Gm5431 A T 11: 48,779,224 (GRCm39) L844* probably null Het
Gm6489 T C 1: 31,326,452 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,678 (GRCm39) V344A probably damaging Het
Gtpbp3 A G 8: 71,943,099 (GRCm39) E170G probably damaging Het
H2az1 A C 3: 137,571,275 (GRCm39) probably benign Het
Heatr1 A G 13: 12,411,419 (GRCm39) N87D probably damaging Het
Iars2 T C 1: 185,027,868 (GRCm39) K687E possibly damaging Het
Ica1 T C 6: 8,749,736 (GRCm39) D71G possibly damaging Het
Ifnlr1 T C 4: 135,413,881 (GRCm39) L10P probably damaging Het
Il1r1 T A 1: 40,352,300 (GRCm39) L490* probably null Het
Ip6k3 A T 17: 27,370,142 (GRCm39) L92Q probably benign Het
Itgbl1 T A 14: 124,204,090 (GRCm39) F394I probably damaging Het
Kat6b T C 14: 21,678,947 (GRCm39) Y437H probably damaging Het
Kcnh5 G C 12: 74,944,358 (GRCm39) Q964E probably benign Het
Krt27 A T 11: 99,237,309 (GRCm39) probably null Het
Mki67 A T 7: 135,300,128 (GRCm39) D1635E probably benign Het
Mmp23 G T 4: 155,736,509 (GRCm39) H177Q possibly damaging Het
Myef2l G T 3: 10,154,346 (GRCm39) V372F probably benign Het
Mylk2 C A 2: 152,759,527 (GRCm39) Q406K possibly damaging Het
Myo1g A G 11: 6,462,159 (GRCm39) probably null Het
Myrf T C 19: 10,197,160 (GRCm39) T261A probably benign Het
Nmt2 C T 2: 3,326,419 (GRCm39) P486L possibly damaging Het
Oard1 T A 17: 48,722,304 (GRCm39) L100* probably null Het
Oca2 T C 7: 55,971,246 (GRCm39) I391T possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5k17 T A 16: 58,746,530 (GRCm39) M135L probably benign Het
Or5p64 A C 7: 107,854,403 (GRCm39) L314* probably null Het
Or6c68 A T 10: 129,157,740 (GRCm39) I83F possibly damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Or9k2b C A 10: 130,015,847 (GRCm39) A301S possibly damaging Het
Pabpc4 T A 4: 123,180,658 (GRCm39) S127T probably damaging Het
Pcdhb1 A G 18: 37,398,760 (GRCm39) D237G probably damaging Het
Pdcd6ip T C 9: 113,537,090 (GRCm39) Y29C probably damaging Het
Phf3 C A 1: 30,870,601 (GRCm39) R95L probably damaging Het
Pkd1l2 A T 8: 117,757,421 (GRCm39) V1539D probably damaging Het
Plxna1 A T 6: 89,308,273 (GRCm39) D1271E probably damaging Het
Ppp3r2 A G 4: 49,681,726 (GRCm39) F75L probably damaging Het
Pth2r C A 1: 65,411,514 (GRCm39) D350E probably damaging Het
Rabgap1 T C 2: 37,373,774 (GRCm39) F262S possibly damaging Het
Rbbp6 T C 7: 122,589,511 (GRCm39) S438P probably benign Het
Rexo1 G A 10: 80,379,200 (GRCm39) R1038C probably damaging Het
Rnf10 A G 5: 115,398,381 (GRCm39) probably benign Het
Scyl1 C A 19: 5,810,132 (GRCm39) A565S probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Sh3yl1 A G 12: 30,992,787 (GRCm39) probably null Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Slc32a1 T C 2: 158,455,963 (GRCm39) V206A probably damaging Het
Smyd5 G A 6: 85,415,121 (GRCm39) R43Q probably benign Het
Snrnp200 G A 2: 127,058,095 (GRCm39) A286T possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Srebf2 T A 15: 82,079,155 (GRCm39) H794Q probably benign Het
Ssbp2 T C 13: 91,812,303 (GRCm39) probably benign Het
Sspo G A 6: 48,455,207 (GRCm39) G3023D probably damaging Het
St6galnac5 T A 3: 152,552,120 (GRCm39) Q149L probably benign Het
Stab2 A G 10: 86,697,334 (GRCm39) Y1985H probably benign Het
Suz12 A G 11: 79,889,926 (GRCm39) M146V probably benign Het
Tac2 A G 10: 127,564,349 (GRCm39) probably null Het
Thbd T C 2: 148,248,899 (GRCm39) E323G probably damaging Het
Tnfrsf26 T A 7: 143,171,660 (GRCm39) T98S probably damaging Het
Trim15 T C 17: 37,173,215 (GRCm39) probably benign Het
Trpt1 T C 19: 6,975,561 (GRCm39) V105A possibly damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r175 A G 7: 23,507,808 (GRCm39) V273A probably benign Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Vmn2r84 G A 10: 130,226,677 (GRCm39) A387V probably benign Het
Wdfy4 A T 14: 32,693,641 (GRCm39) L2728Q probably damaging Het
Zfp934 T A 13: 62,666,108 (GRCm39) T178S possibly damaging 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
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
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'- TTGATGATGTCACAGTAGTCGTGC -3'
(R):5'- ATCCTGAAGGGCAGCTGTAC -3'

Sequencing Primer
(F):5'- TGCAGACCCAGTGCCTC -3'
(R):5'- TGTACCAGCCAGAGCCTCTG -3'
Posted On 2014-08-01