Incidental Mutation 'R0629:Bclaf1'
ID 57767
Institutional Source Beutler Lab
Gene Symbol Bclaf1
Ensembl Gene ENSMUSG00000037608
Gene Name BCL2-associated transcription factor 1
Synonyms 2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik
MMRRC Submission 038818-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0629 (G1)
Quality Score 150
Status Validated
Chromosome 10
Chromosomal Location 20187897-20218390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20209172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 463 (S463P)
Ref Sequence ENSEMBL: ENSMUSP00000140702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043881] [ENSMUST00000092678] [ENSMUST00000185800] [ENSMUST00000186100] [ENSMUST00000189158] [ENSMUST00000191438] [ENSMUST00000190156]
AlphaFold Q8K019
Predicted Effect possibly damaging
Transcript: ENSMUST00000043881
AA Change: S750P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: S750P

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 possibly damaging
Transcript: ENSMUST00000092678
AA Change: S750P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: S750P

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 possibly damaging
Transcript: ENSMUST00000185800
AA Change: S748P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: S748P

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 probably benign
Transcript: ENSMUST00000186100
SMART Domains Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608

DomainStartEndE-ValueType
low complexity region 3 94 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 108 742 6.4e-177 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188546
Predicted Effect probably benign
Transcript: ENSMUST00000189158
Predicted Effect probably damaging
Transcript: ENSMUST00000191438
AA Change: S463P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: S463P

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: ENSMUST00000191143
Predicted Effect probably benign
Transcript: ENSMUST00000190156
SMART Domains Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608

DomainStartEndE-ValueType
low complexity region 3 92 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 106 740 4.2e-180 PFAM
Meta Mutation Damage Score 0.4021 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I probably damaging Het
Other mutations in Bclaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bclaf1 APN 10 20,201,745 (GRCm39) missense probably damaging 0.99
IGL01087:Bclaf1 APN 10 20,201,056 (GRCm39) missense probably damaging 0.99
IGL02001:Bclaf1 APN 10 20,198,762 (GRCm39) unclassified probably benign
IGL02380:Bclaf1 APN 10 20,201,113 (GRCm39) missense possibly damaging 0.93
IGL02618:Bclaf1 APN 10 20,199,274 (GRCm39) missense probably damaging 1.00
R0884:Bclaf1 UTSW 10 20,197,822 (GRCm39) nonsense probably null
R1013:Bclaf1 UTSW 10 20,207,822 (GRCm39) splice site probably benign
R1611:Bclaf1 UTSW 10 20,198,998 (GRCm39) unclassified probably benign
R2228:Bclaf1 UTSW 10 20,215,624 (GRCm39) utr 3 prime probably benign
R3689:Bclaf1 UTSW 10 20,201,143 (GRCm39) missense possibly damaging 0.84
R3690:Bclaf1 UTSW 10 20,201,143 (GRCm39) missense possibly damaging 0.84
R4290:Bclaf1 UTSW 10 20,199,524 (GRCm39) missense probably damaging 1.00
R4292:Bclaf1 UTSW 10 20,199,524 (GRCm39) missense probably damaging 1.00
R4831:Bclaf1 UTSW 10 20,197,872 (GRCm39) unclassified probably benign
R5238:Bclaf1 UTSW 10 20,208,130 (GRCm39) intron probably benign
R5254:Bclaf1 UTSW 10 20,199,282 (GRCm39) missense possibly damaging 0.71
R5354:Bclaf1 UTSW 10 20,209,278 (GRCm39) missense probably damaging 1.00
R5386:Bclaf1 UTSW 10 20,201,338 (GRCm39) missense possibly damaging 0.95
R5712:Bclaf1 UTSW 10 20,209,277 (GRCm39) missense probably damaging 1.00
R5982:Bclaf1 UTSW 10 20,198,809 (GRCm39) nonsense probably null
R6147:Bclaf1 UTSW 10 20,199,171 (GRCm39) missense possibly damaging 0.93
R6218:Bclaf1 UTSW 10 20,210,374 (GRCm39) missense probably benign 0.27
R6284:Bclaf1 UTSW 10 20,197,906 (GRCm39) splice site probably null
R6738:Bclaf1 UTSW 10 20,199,515 (GRCm39) missense possibly damaging 0.91
R7085:Bclaf1 UTSW 10 20,197,768 (GRCm39) missense unknown
R7768:Bclaf1 UTSW 10 20,215,517 (GRCm39) missense probably benign 0.18
R7814:Bclaf1 UTSW 10 20,210,365 (GRCm39) missense possibly damaging 0.53
R8699:Bclaf1 UTSW 10 20,209,184 (GRCm39) missense possibly damaging 0.86
R9640:Bclaf1 UTSW 10 20,201,553 (GRCm39) critical splice donor site probably null
R9747:Bclaf1 UTSW 10 20,207,892 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GTGGCCTAAACCACAGACTGTTCTC -3'
(R):5'- GCACAGTTCTCCAAGACAAAGGCTC -3'

Sequencing Primer
(F):5'- gttcagtccccagcacc -3'
(R):5'- GGCTCCCAAATGATCAAAGAG -3'
Posted On 2013-07-11