Incidental Mutation 'R0165:Brd1'
ID 24129
Institutional Source Beutler Lab
Gene Symbol Brd1
Ensembl Gene ENSMUSG00000022387
Gene Name bromodomain containing 1
Synonyms 1110059H06Rik
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 88571237-88618436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88613980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 305 (N305S)
Ref Sequence ENSEMBL: ENSMUSP00000105007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088911] [ENSMUST00000109380] [ENSMUST00000109381]
AlphaFold G5E8P1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000088911
SMART Domains Protein: ENSMUSP00000086300
Gene: ENSMUSG00000022387

DomainStartEndE-ValueType
Pfam:EPL1 46 196 1.3e-38 PFAM
PHD 216 262 3.17e-7 SMART
PHD 326 389 5.16e-7 SMART
low complexity region 415 436 N/A INTRINSIC
low complexity region 492 504 N/A INTRINSIC
low complexity region 532 551 N/A INTRINSIC
BROMO 560 668 8.59e-39 SMART
coiled coil region 704 726 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109380
AA Change: N305S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: N305S

DomainStartEndE-ValueType
Pfam:EPL1 46 196 3.3e-38 PFAM
PHD 216 262 3.17e-7 SMART
PHD 326 389 5.16e-7 SMART
low complexity region 415 436 N/A INTRINSIC
low complexity region 492 504 N/A INTRINSIC
low complexity region 532 551 N/A INTRINSIC
BROMO 560 668 8.59e-39 SMART
coiled coil region 704 726 N/A INTRINSIC
low complexity region 836 869 N/A INTRINSIC
PWWP 927 1010 2.25e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109381
AA Change: N305S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: N305S

DomainStartEndE-ValueType
Pfam:EPL1 47 196 3.9e-37 PFAM
PHD 216 262 3.17e-7 SMART
PHD 326 389 5.16e-7 SMART
low complexity region 415 436 N/A INTRINSIC
low complexity region 492 504 N/A INTRINSIC
low complexity region 532 551 N/A INTRINSIC
BROMO 560 668 8.59e-39 SMART
coiled coil region 704 726 N/A INTRINSIC
low complexity region 857 876 N/A INTRINSIC
low complexity region 887 898 N/A INTRINSIC
low complexity region 967 1000 N/A INTRINSIC
PWWP 1058 1141 2.25e-39 SMART
Meta Mutation Damage Score 0.8877 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca15 T A 7: 119,950,126 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Ddhd1 G A 14: 45,833,049 (GRCm39) T849M probably damaging Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Epha2 T C 4: 141,049,203 (GRCm39) probably null Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Stat6 T C 10: 127,493,096 (GRCm39) V576A probably damaging Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Wdhd1 A G 14: 47,504,525 (GRCm39) S350P probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P probably damaging Het
Other mutations in Brd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Brd1 APN 15 88,614,361 (GRCm39) missense probably benign 0.38
IGL00924:Brd1 APN 15 88,613,612 (GRCm39) missense possibly damaging 0.80
IGL01626:Brd1 APN 15 88,585,090 (GRCm39) missense probably damaging 1.00
IGL02569:Brd1 APN 15 88,598,132 (GRCm39) missense probably damaging 1.00
IGL02646:Brd1 APN 15 88,585,080 (GRCm39) missense probably damaging 1.00
IGL03130:Brd1 APN 15 88,572,577 (GRCm39) missense probably benign
IGL03343:Brd1 APN 15 88,591,454 (GRCm39) missense possibly damaging 0.89
spry UTSW 15 88,572,558 (GRCm39) missense possibly damaging 0.47
R0089:Brd1 UTSW 15 88,585,401 (GRCm39) missense probably benign 0.06
R0112:Brd1 UTSW 15 88,614,586 (GRCm39) missense probably benign
R0965:Brd1 UTSW 15 88,601,231 (GRCm39) missense probably damaging 1.00
R1195:Brd1 UTSW 15 88,585,014 (GRCm39) missense probably benign 0.12
R1195:Brd1 UTSW 15 88,585,014 (GRCm39) missense probably benign 0.12
R1195:Brd1 UTSW 15 88,585,014 (GRCm39) missense probably benign 0.12
R1534:Brd1 UTSW 15 88,573,866 (GRCm39) missense possibly damaging 0.68
R2245:Brd1 UTSW 15 88,574,063 (GRCm39) critical splice donor site probably null
R3611:Brd1 UTSW 15 88,585,147 (GRCm39) missense probably benign
R3751:Brd1 UTSW 15 88,573,821 (GRCm39) missense possibly damaging 0.83
R3752:Brd1 UTSW 15 88,573,821 (GRCm39) missense possibly damaging 0.83
R3753:Brd1 UTSW 15 88,573,821 (GRCm39) missense possibly damaging 0.83
R3801:Brd1 UTSW 15 88,601,243 (GRCm39) missense probably damaging 1.00
R4956:Brd1 UTSW 15 88,614,316 (GRCm39) missense probably damaging 1.00
R5382:Brd1 UTSW 15 88,613,767 (GRCm39) missense probably damaging 1.00
R5546:Brd1 UTSW 15 88,585,325 (GRCm39) missense probably benign 0.00
R5659:Brd1 UTSW 15 88,597,584 (GRCm39) missense probably benign 0.14
R5730:Brd1 UTSW 15 88,601,248 (GRCm39) missense probably benign 0.05
R5773:Brd1 UTSW 15 88,573,752 (GRCm39) missense probably benign 0.14
R6224:Brd1 UTSW 15 88,572,558 (GRCm39) missense possibly damaging 0.47
R6371:Brd1 UTSW 15 88,598,201 (GRCm39) missense probably benign
R7096:Brd1 UTSW 15 88,598,138 (GRCm39) missense probably damaging 1.00
R7722:Brd1 UTSW 15 88,613,762 (GRCm39) missense probably damaging 1.00
R8782:Brd1 UTSW 15 88,614,834 (GRCm39) nonsense probably null
R8869:Brd1 UTSW 15 88,614,729 (GRCm39) missense probably benign 0.09
R9079:Brd1 UTSW 15 88,598,153 (GRCm39) missense probably damaging 1.00
R9116:Brd1 UTSW 15 88,585,374 (GRCm39) missense possibly damaging 0.96
R9351:Brd1 UTSW 15 88,614,307 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GGGCACATGTCACATGGAATGCTG -3'
(R):5'- TGAGGACGCTGTTTGCTGCATC -3'

Sequencing Primer
(F):5'- CTGTGTAGCAATTTGCTTTGTG -3'
(R):5'- CTGTGACATGTGCAACCTG -3'
Posted On 2013-04-16