Incidental Mutation 'IGL01626:Brd1'
ID92757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brd1
Ensembl Gene ENSMUSG00000022387
Gene Namebromodomain containing 1
Synonyms1110059H06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01626
Quality Score
Status
Chromosome15
Chromosomal Location88687034-88734233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88700887 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 915 (L915M)
Ref Sequence ENSEMBL: ENSMUSP00000105007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088911] [ENSMUST00000109380] [ENSMUST00000109381]
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
SMART Domains Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387

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: L915M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: L915M

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: ENSMUST00000150004
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 60,019,174 D188G probably damaging Het
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Gucy2e A G 11: 69,232,855 V406A possibly damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Nop14 T A 5: 34,649,345 K472* probably null Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Rorc A G 3: 94,388,787 D91G probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Stx16 T G 2: 174,094,020 I248S probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Brd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Brd1 APN 15 88730158 missense probably benign 0.38
IGL00924:Brd1 APN 15 88729409 missense possibly damaging 0.80
IGL02569:Brd1 APN 15 88713929 missense probably damaging 1.00
IGL02646:Brd1 APN 15 88700877 missense probably damaging 1.00
IGL03130:Brd1 APN 15 88688374 missense probably benign
IGL03343:Brd1 APN 15 88707251 missense possibly damaging 0.89
spry UTSW 15 88688355 missense possibly damaging 0.47
R0089:Brd1 UTSW 15 88701198 missense probably benign 0.06
R0112:Brd1 UTSW 15 88730383 missense probably benign
R0165:Brd1 UTSW 15 88729777 missense probably damaging 0.99
R0965:Brd1 UTSW 15 88717028 missense probably damaging 1.00
R1195:Brd1 UTSW 15 88700811 missense probably benign 0.12
R1195:Brd1 UTSW 15 88700811 missense probably benign 0.12
R1195:Brd1 UTSW 15 88700811 missense probably benign 0.12
R1534:Brd1 UTSW 15 88689663 missense possibly damaging 0.68
R2245:Brd1 UTSW 15 88689860 critical splice donor site probably null
R3611:Brd1 UTSW 15 88700944 missense probably benign
R3751:Brd1 UTSW 15 88689618 missense possibly damaging 0.83
R3752:Brd1 UTSW 15 88689618 missense possibly damaging 0.83
R3753:Brd1 UTSW 15 88689618 missense possibly damaging 0.83
R3801:Brd1 UTSW 15 88717040 missense probably damaging 1.00
R4956:Brd1 UTSW 15 88730113 missense probably damaging 1.00
R5382:Brd1 UTSW 15 88729564 missense probably damaging 1.00
R5546:Brd1 UTSW 15 88701122 missense probably benign 0.00
R5659:Brd1 UTSW 15 88713381 missense probably benign 0.14
R5730:Brd1 UTSW 15 88717045 missense probably benign 0.05
R5773:Brd1 UTSW 15 88689549 missense probably benign 0.14
R6224:Brd1 UTSW 15 88688355 missense possibly damaging 0.47
R6371:Brd1 UTSW 15 88713998 missense probably benign
R7096:Brd1 UTSW 15 88713935 missense probably damaging 1.00
R7722:Brd1 UTSW 15 88729559 missense probably damaging 1.00
Posted On2013-12-09