Incidental Mutation 'R5770:Bcl9'
ID 446479
Institutional Source Beutler Lab
Gene Symbol Bcl9
Ensembl Gene ENSMUSG00000038256
Gene Name B cell CLL/lymphoma 9
Synonyms 2610202E01Rik, A330041G23Rik, 8030475K17Rik
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 97110978-97205233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97122491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 103 (I103V)
Ref Sequence ENSEMBL: ENSMUSP00000131692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046521] [ENSMUST00000166341]
AlphaFold Q9D219
Predicted Effect probably benign
Transcript: ENSMUST00000046521
AA Change: I103V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: I103V

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
PDB:2VP7|B 174 205 4e-13 PDB
low complexity region 229 247 N/A INTRINSIC
low complexity region 255 273 N/A INTRINSIC
low complexity region 321 342 N/A INTRINSIC
Pfam:BCL9 350 389 3.1e-24 PFAM
low complexity region 481 494 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
low complexity region 817 835 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
low complexity region 985 1001 N/A INTRINSIC
low complexity region 1032 1044 N/A INTRINSIC
low complexity region 1135 1153 N/A INTRINSIC
low complexity region 1156 1177 N/A INTRINSIC
low complexity region 1257 1268 N/A INTRINSIC
low complexity region 1281 1299 N/A INTRINSIC
low complexity region 1371 1391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141861
Predicted Effect probably benign
Transcript: ENSMUST00000166341
AA Change: I103V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: I103V

DomainStartEndE-ValueType
low complexity region 49 63 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
PDB:2VP7|B 174 205 4e-13 PDB
low complexity region 229 247 N/A INTRINSIC
low complexity region 255 273 N/A INTRINSIC
low complexity region 321 342 N/A INTRINSIC
Pfam:BCL9 350 388 5.2e-22 PFAM
low complexity region 481 494 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
low complexity region 817 835 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
low complexity region 985 1001 N/A INTRINSIC
low complexity region 1032 1044 N/A INTRINSIC
low complexity region 1135 1153 N/A INTRINSIC
low complexity region 1156 1177 N/A INTRINSIC
low complexity region 1257 1268 N/A INTRINSIC
low complexity region 1281 1299 N/A INTRINSIC
low complexity region 1371 1391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196586
Meta Mutation Damage Score 0.0577 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Aoc3 T G 11: 101,222,578 (GRCm39) Y271* probably null Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nat8f5 T C 6: 85,794,657 (GRCm39) Y101C probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Nudcd3 T C 11: 6,063,286 (GRCm39) D201G probably damaging Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Shoc1 T C 4: 59,092,466 (GRCm39) I238M probably benign Het
Slc16a5 A G 11: 115,363,604 (GRCm39) K422E possibly damaging Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T probably damaging Het
Other mutations in Bcl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Bcl9 APN 3 97,114,518 (GRCm39) missense probably damaging 1.00
IGL00817:Bcl9 APN 3 97,112,460 (GRCm39) missense probably damaging 0.97
IGL01609:Bcl9 APN 3 97,116,291 (GRCm39) missense probably benign 0.23
IGL02245:Bcl9 APN 3 97,116,009 (GRCm39) missense probably damaging 1.00
IGL02385:Bcl9 APN 3 97,116,594 (GRCm39) missense probably benign 0.01
IGL02534:Bcl9 APN 3 97,122,545 (GRCm39) missense probably damaging 1.00
IGL02663:Bcl9 APN 3 97,112,648 (GRCm39) missense probably damaging 1.00
IGL02705:Bcl9 APN 3 97,112,181 (GRCm39) missense possibly damaging 0.94
IGL02884:Bcl9 APN 3 97,117,368 (GRCm39) missense probably damaging 1.00
IGL03345:Bcl9 APN 3 97,116,508 (GRCm39) missense probably benign
R0312:Bcl9 UTSW 3 97,116,727 (GRCm39) missense probably benign 0.27
R0602:Bcl9 UTSW 3 97,113,102 (GRCm39) missense probably benign 0.00
R0627:Bcl9 UTSW 3 97,112,789 (GRCm39) missense probably damaging 1.00
R0644:Bcl9 UTSW 3 97,117,813 (GRCm39) missense probably benign
R1342:Bcl9 UTSW 3 97,113,042 (GRCm39) missense possibly damaging 0.93
R1836:Bcl9 UTSW 3 97,113,186 (GRCm39) missense probably damaging 0.97
R1886:Bcl9 UTSW 3 97,122,713 (GRCm39) missense probably benign 0.04
R1931:Bcl9 UTSW 3 97,112,460 (GRCm39) missense probably damaging 0.97
R1972:Bcl9 UTSW 3 97,114,518 (GRCm39) missense probably damaging 1.00
R1984:Bcl9 UTSW 3 97,121,050 (GRCm39) missense probably damaging 0.98
R2119:Bcl9 UTSW 3 97,116,231 (GRCm39) missense probably benign 0.04
R2924:Bcl9 UTSW 3 97,117,069 (GRCm39) missense probably benign 0.00
R3081:Bcl9 UTSW 3 97,112,989 (GRCm39) missense possibly damaging 0.82
R3851:Bcl9 UTSW 3 97,116,969 (GRCm39) missense probably damaging 0.99
R4182:Bcl9 UTSW 3 97,120,999 (GRCm39) critical splice donor site probably null
R4196:Bcl9 UTSW 3 97,123,684 (GRCm39) utr 5 prime probably benign
R4209:Bcl9 UTSW 3 97,117,269 (GRCm39) missense probably damaging 1.00
R5082:Bcl9 UTSW 3 97,117,218 (GRCm39) missense probably damaging 0.97
R5440:Bcl9 UTSW 3 97,117,881 (GRCm39) missense probably benign
R5863:Bcl9 UTSW 3 97,117,666 (GRCm39) missense probably benign
R5891:Bcl9 UTSW 3 97,116,204 (GRCm39) missense probably damaging 1.00
R6086:Bcl9 UTSW 3 97,112,840 (GRCm39) missense possibly damaging 0.73
R6305:Bcl9 UTSW 3 97,113,254 (GRCm39) missense possibly damaging 0.73
R6626:Bcl9 UTSW 3 97,122,712 (GRCm39) missense probably benign 0.00
R7198:Bcl9 UTSW 3 97,116,183 (GRCm39) missense probably damaging 0.99
R7198:Bcl9 UTSW 3 97,112,511 (GRCm39) missense possibly damaging 0.87
R7548:Bcl9 UTSW 3 97,113,209 (GRCm39) missense probably damaging 1.00
R7897:Bcl9 UTSW 3 97,112,567 (GRCm39) missense possibly damaging 0.92
R8299:Bcl9 UTSW 3 97,112,852 (GRCm39) missense probably damaging 0.97
R8332:Bcl9 UTSW 3 97,117,086 (GRCm39) missense possibly damaging 0.74
R8519:Bcl9 UTSW 3 97,116,334 (GRCm39) missense probably benign
R9057:Bcl9 UTSW 3 97,112,306 (GRCm39) missense possibly damaging 0.86
R9079:Bcl9 UTSW 3 97,112,816 (GRCm39) missense probably damaging 1.00
R9273:Bcl9 UTSW 3 97,115,959 (GRCm39) missense probably damaging 1.00
R9367:Bcl9 UTSW 3 97,117,861 (GRCm39) missense probably benign 0.22
R9399:Bcl9 UTSW 3 97,113,289 (GRCm39) missense probably benign 0.00
R9597:Bcl9 UTSW 3 97,117,323 (GRCm39) missense probably benign 0.01
R9643:Bcl9 UTSW 3 97,112,960 (GRCm39) missense possibly damaging 0.77
X0011:Bcl9 UTSW 3 97,113,290 (GRCm39) missense probably benign 0.05
Z1088:Bcl9 UTSW 3 97,117,957 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TAAGCTGCAGACTTCCAGGC -3'
(R):5'- TGATGTCCCCATCTGGAAAC -3'

Sequencing Primer
(F):5'- TGCAGACTTCCAGGCTCTGC -3'
(R):5'- CTGGATTCCAAATTCTCCAATCAGGG -3'
Posted On 2016-11-21