Incidental Mutation 'IGL02001:Bclaf1'
ID183054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bclaf1
Ensembl Gene ENSMUSG00000037608
Gene NameBCL2-associated transcription factor 1
Synonyms5730534O06Rik, 2810454G14Rik, 2700025J07Rik, 2610102K23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02001
Quality Score
Status
Chromosome10
Chromosomal Location20312469-20344613 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 20323016 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043881] [ENSMUST00000092678] [ENSMUST00000185800] [ENSMUST00000186100] [ENSMUST00000189158] [ENSMUST00000190156] [ENSMUST00000191438]
Predicted Effect unknown
Transcript: ENSMUST00000043881
AA Change: Y53C
SMART Domains Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 3 94 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 108 766 1.6e-181 PFAM
low complexity region 793 824 N/A INTRINSIC
low complexity region 861 874 N/A INTRINSIC
low complexity region 898 919 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000092678
AA Change: Y53C
SMART Domains Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 3 94 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 108 789 5.4e-191 PFAM
low complexity region 812 825 N/A INTRINSIC
low complexity region 849 870 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000185800
AA Change: Y51C
SMART Domains Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: Y51C

DomainStartEndE-ValueType
low complexity region 3 92 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 106 787 7.2e-191 PFAM
low complexity region 791 822 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
low complexity region 896 917 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000186100
AA Change: Y53C
SMART Domains Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 3 94 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 108 742 6.4e-177 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187338
Predicted Effect probably benign
Transcript: ENSMUST00000189158
Predicted Effect unknown
Transcript: ENSMUST00000190156
AA Change: Y51C
SMART Domains Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: Y51C

DomainStartEndE-ValueType
low complexity region 3 92 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 106 740 4.2e-180 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191438
SMART Domains Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 1 502 1.3e-140 PFAM
low complexity region 525 538 N/A INTRINSIC
low complexity region 562 583 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215262
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 transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, impaired lung development, and T cell and B cell homeostasis abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,067,277 M268K probably benign Het
A530064D06Rik T C 17: 48,166,674 N25S possibly damaging Het
Als2 A T 1: 59,180,188 probably benign Het
Asah2 T A 19: 32,043,539 K255* probably null Het
Bpifb2 T C 2: 153,891,275 probably benign Het
Cacna2d2 G A 9: 107,522,116 V669I probably benign Het
Cep89 T A 7: 35,403,007 probably benign Het
Chl1 T G 6: 103,642,056 L29R possibly damaging Het
Defb2 T C 8: 21,843,337 Y43H probably damaging Het
Disc1 A G 8: 125,251,042 Y799C probably damaging Het
Egf G T 3: 129,716,768 A34E probably damaging Het
Fat2 A T 11: 55,312,245 M1K probably null Het
Gprin1 T C 13: 54,739,192 E423G probably damaging Het
Kcnh6 T C 11: 106,027,549 probably benign Het
Kcnt1 A G 2: 25,908,152 E925G probably damaging Het
Kctd16 A T 18: 40,258,680 K107I possibly damaging Het
Lrig1 T C 6: 94,607,324 K913R probably benign Het
March7 A G 2: 60,234,891 T504A possibly damaging Het
Mrpl11 C T 19: 4,963,652 R154* probably null Het
Nlrp4a T C 7: 26,449,969 F334L probably benign Het
Olfr30 C T 11: 58,455,509 V147M probably benign Het
Olfr545 T A 7: 102,494,539 T79S probably benign Het
Parp6 A G 9: 59,649,961 T610A possibly damaging Het
Pcdhb15 T G 18: 37,474,038 L108V probably benign Het
Pomgnt1 G T 4: 116,152,908 E156* probably null Het
Psma2 T G 13: 14,623,607 F105V possibly damaging Het
Rapgef4 A G 2: 72,225,052 probably benign Het
Sclt1 A T 3: 41,681,721 S282T possibly damaging Het
Serpina3f A G 12: 104,219,466 Y310C probably damaging Het
Sh3pxd2a T C 19: 47,273,447 K331R probably damaging Het
Tectb T C 19: 55,189,595 F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 H327R probably damaging Het
Try10 T A 6: 41,356,589 D89E probably benign Het
Ttn G A 2: 76,756,784 S21623L probably damaging Het
Ttn A G 2: 76,781,938 L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,031,388 noncoding transcript Het
Vmn2r69 T A 7: 85,407,226 Q568L probably benign Het
Wdr36 T A 18: 32,852,888 D548E probably damaging Het
Zfand4 T A 6: 116,273,652 H14Q probably benign Het
Other mutations in Bclaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bclaf1 APN 10 20325999 missense probably damaging 0.99
IGL01087:Bclaf1 APN 10 20325310 missense probably damaging 0.99
IGL02380:Bclaf1 APN 10 20325367 missense possibly damaging 0.93
IGL02618:Bclaf1 APN 10 20323528 missense probably damaging 1.00
R0629:Bclaf1 UTSW 10 20333426 missense probably damaging 1.00
R0884:Bclaf1 UTSW 10 20322076 nonsense probably null
R1013:Bclaf1 UTSW 10 20332076 splice site probably benign
R1611:Bclaf1 UTSW 10 20323252 unclassified probably benign
R2228:Bclaf1 UTSW 10 20339878 utr 3 prime probably benign
R3689:Bclaf1 UTSW 10 20325397 missense possibly damaging 0.84
R3690:Bclaf1 UTSW 10 20325397 missense possibly damaging 0.84
R4290:Bclaf1 UTSW 10 20323778 missense probably damaging 1.00
R4292:Bclaf1 UTSW 10 20323778 missense probably damaging 1.00
R4831:Bclaf1 UTSW 10 20322126 unclassified probably benign
R5238:Bclaf1 UTSW 10 20332384 intron probably benign
R5254:Bclaf1 UTSW 10 20323536 missense possibly damaging 0.71
R5354:Bclaf1 UTSW 10 20333532 missense probably damaging 1.00
R5386:Bclaf1 UTSW 10 20325592 missense possibly damaging 0.95
R5712:Bclaf1 UTSW 10 20333531 missense probably damaging 1.00
R5982:Bclaf1 UTSW 10 20323063 nonsense probably null
R6147:Bclaf1 UTSW 10 20323425 missense possibly damaging 0.93
R6218:Bclaf1 UTSW 10 20334628 missense probably benign 0.27
R6284:Bclaf1 UTSW 10 20322160 intron probably null
R6738:Bclaf1 UTSW 10 20323769 missense possibly damaging 0.91
R7085:Bclaf1 UTSW 10 20322022 missense not run
Posted On2014-05-07