Incidental Mutation 'R5659:Brd1'
ID 444004
Institutional Source Beutler Lab
Gene Symbol Brd1
Ensembl Gene ENSMUSG00000022387
Gene Name bromodomain containing 1
Synonyms 1110059H06Rik
MMRRC Submission 043303-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5659 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 88571237-88618436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88597584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 568 (T568A)
Ref Sequence ENSEMBL: ENSMUSP00000105006 (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 benign
Transcript: ENSMUST00000109380
AA Change: T568A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: T568A

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 benign
Transcript: ENSMUST00000109381
AA Change: T568A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: T568A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156155
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T C 18: 36,694,103 (GRCm39) S105P probably damaging Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Ap3b2 T A 7: 81,126,500 (GRCm39) I367F probably damaging Het
Apaf1 A T 10: 90,898,015 (GRCm39) C247* probably null Het
Aqp8 G A 7: 123,065,889 (GRCm39) W228* probably null Het
Arhgap32 T A 9: 32,093,256 (GRCm39) V178D probably damaging Het
Atp10b T A 11: 43,136,252 (GRCm39) W1127R probably damaging Het
Bcl6 A T 16: 23,787,159 (GRCm39) C580* probably null Het
Brsk1 C T 7: 4,718,371 (GRCm39) P665L possibly damaging Het
Cblc A G 7: 19,526,857 (GRCm39) L125P probably damaging Het
Ccdc87 T C 19: 4,890,878 (GRCm39) S457P probably damaging Het
Cxcr5 C T 9: 44,424,690 (GRCm39) M322I probably benign Het
Cyb5r4 T A 9: 86,937,881 (GRCm39) F300Y probably benign Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dhx9 A G 1: 153,347,481 (GRCm39) V409A probably damaging Het
Dnah7b A G 1: 46,392,009 (GRCm39) D3790G probably damaging Het
Gin1 A G 1: 97,703,257 (GRCm39) T27A possibly damaging Het
Gipc1 A T 8: 84,390,755 (GRCm39) M287L probably benign Het
Kat6a T A 8: 23,428,176 (GRCm39) L1177* probably null Het
Klhl20 A G 1: 160,918,040 (GRCm39) V82A probably damaging Het
Kmt2e T C 5: 23,702,805 (GRCm39) I995T probably damaging Het
Lpin1 A T 12: 16,590,990 (GRCm39) V814E probably damaging Het
Luzp1 T A 4: 136,269,787 (GRCm39) V670D probably damaging Het
Lyst C A 13: 13,809,212 (GRCm39) A294E possibly damaging Het
Olr1 T A 6: 129,476,992 (GRCm39) E91V probably damaging Het
Or1j1 A T 2: 36,702,966 (GRCm39) I46N probably damaging Het
Or2k2 A T 4: 58,785,672 (GRCm39) F17I probably damaging Het
Or8b55 C T 9: 38,727,072 (GRCm39) T91I probably benign Het
Pam T C 1: 97,770,024 (GRCm39) Y476C probably damaging Het
Pcdhac1 T C 18: 37,225,470 (GRCm39) L761P probably damaging Het
Phf21b C T 15: 84,678,101 (GRCm39) W300* probably null Het
Pld2 T C 11: 70,448,387 (GRCm39) *945Q probably null Het
Ppp1r37 C T 7: 19,269,448 (GRCm39) V145M probably damaging Het
Rasgrf1 T A 9: 89,866,342 (GRCm39) N593K probably damaging Het
Rhot1 T G 11: 80,141,181 (GRCm39) probably null Het
Rmnd1 A T 10: 4,377,382 (GRCm39) M99K probably benign Het
Ros1 G A 10: 52,019,482 (GRCm39) T697I possibly damaging Het
Scgb1b10 G T 7: 31,800,303 (GRCm39) A4S probably benign Het
Shc3 T C 13: 51,670,630 (GRCm39) Y39C probably damaging Het
Slc25a23 A G 17: 57,352,500 (GRCm39) probably benign Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Sqor G A 2: 122,629,523 (GRCm39) C127Y probably benign Het
Sv2a G C 3: 96,097,619 (GRCm39) W467S possibly damaging Het
Togaram2 G T 17: 71,994,667 (GRCm39) D39Y probably damaging Het
Tspan11 T A 6: 127,915,240 (GRCm39) probably null Het
Usp32 A G 11: 84,968,240 (GRCm39) V141A possibly damaging Het
Zbtb38 T C 9: 96,569,473 (GRCm39) H537R probably damaging Het
Zfat T C 15: 67,990,862 (GRCm39) Y1008C probably damaging Het
Zfp637 G A 6: 117,820,291 (GRCm39) G3E probably damaging Het
Zfp788 T A 7: 41,299,540 (GRCm39) Y673* probably null Het
Zhx2 T C 15: 57,685,704 (GRCm39) S358P probably benign 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
R0165:Brd1 UTSW 15 88,613,980 (GRCm39) missense probably damaging 0.99
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
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'- AGTGCTTTACAACGAGGTACAATC -3'
(R):5'- CGCTTCTGTGATTGTGCAGTAC -3'

Sequencing Primer
(F):5'- CCAGTTGCATGCTTCCTA -3'
(R):5'- GCAGTACGTGGAGGTGC -3'
Posted On 2016-11-09