Incidental Mutation 'IGL02534:Bcl9'
ID297423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl9
Ensembl Gene ENSMUSG00000038256
Gene NameB cell CLL/lymphoma 9
Synonyms8030475K17Rik, A330041G23Rik, 2610202E01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL02534
Quality Score
Status
Chromosome3
Chromosomal Location97203662-97297917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97215229 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 85 (L85M)
Ref Sequence ENSEMBL: ENSMUSP00000131692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046521] [ENSMUST00000166341]
Predicted Effect probably damaging
Transcript: ENSMUST00000046521
AA Change: L85M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: L85M

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 damaging
Transcript: ENSMUST00000166341
AA Change: L85M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: L85M

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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Bcl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Bcl9 APN 3 97207202 missense probably damaging 1.00
IGL00817:Bcl9 APN 3 97205144 missense probably damaging 0.97
IGL01609:Bcl9 APN 3 97208975 missense probably benign 0.23
IGL02245:Bcl9 APN 3 97208693 missense probably damaging 1.00
IGL02385:Bcl9 APN 3 97209278 missense probably benign 0.01
IGL02663:Bcl9 APN 3 97205332 missense probably damaging 1.00
IGL02705:Bcl9 APN 3 97204865 missense possibly damaging 0.94
IGL02884:Bcl9 APN 3 97210052 missense probably damaging 1.00
IGL03345:Bcl9 APN 3 97209192 missense probably benign
R0312:Bcl9 UTSW 3 97209411 missense probably benign 0.27
R0602:Bcl9 UTSW 3 97205786 missense probably benign 0.00
R0627:Bcl9 UTSW 3 97205473 missense probably damaging 1.00
R0644:Bcl9 UTSW 3 97210497 missense probably benign
R1342:Bcl9 UTSW 3 97205726 missense possibly damaging 0.93
R1836:Bcl9 UTSW 3 97205870 missense probably damaging 0.97
R1886:Bcl9 UTSW 3 97215397 missense probably benign 0.04
R1931:Bcl9 UTSW 3 97205144 missense probably damaging 0.97
R1972:Bcl9 UTSW 3 97207202 missense probably damaging 1.00
R1984:Bcl9 UTSW 3 97213734 missense probably damaging 0.98
R2119:Bcl9 UTSW 3 97208915 missense probably benign 0.04
R2924:Bcl9 UTSW 3 97209753 missense probably benign 0.00
R3081:Bcl9 UTSW 3 97205673 missense possibly damaging 0.82
R3851:Bcl9 UTSW 3 97209653 missense probably damaging 0.99
R4182:Bcl9 UTSW 3 97213683 critical splice donor site probably null
R4196:Bcl9 UTSW 3 97216368 utr 5 prime probably benign
R4209:Bcl9 UTSW 3 97209953 missense probably damaging 1.00
R5082:Bcl9 UTSW 3 97209902 missense probably damaging 0.97
R5440:Bcl9 UTSW 3 97210565 missense probably benign
R5770:Bcl9 UTSW 3 97215175 missense probably benign
R5863:Bcl9 UTSW 3 97210350 missense probably benign
R5891:Bcl9 UTSW 3 97208888 missense probably damaging 1.00
R6086:Bcl9 UTSW 3 97205524 missense possibly damaging 0.73
R6305:Bcl9 UTSW 3 97205938 missense possibly damaging 0.73
R6626:Bcl9 UTSW 3 97215396 missense probably benign 0.00
R7198:Bcl9 UTSW 3 97205195 missense possibly damaging 0.87
R7198:Bcl9 UTSW 3 97208867 missense probably damaging 0.99
R7548:Bcl9 UTSW 3 97205893 missense probably damaging 1.00
R7897:Bcl9 UTSW 3 97205251 missense possibly damaging 0.92
R7980:Bcl9 UTSW 3 97205251 missense possibly damaging 0.92
X0011:Bcl9 UTSW 3 97205974 missense probably benign 0.05
Z1088:Bcl9 UTSW 3 97210641 missense possibly damaging 0.50
Posted On2015-04-16