Incidental Mutation 'IGL02705:Bcl9'
ID 304315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl9
Ensembl Gene ENSMUSG00000038256
Gene Name B cell CLL/lymphoma 9
Synonyms 2610202E01Rik, A330041G23Rik, 8030475K17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # IGL02705
Quality Score
Status
Chromosome 3
Chromosomal Location 97110978-97205233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97112181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1425 (F1425L)
Ref Sequence ENSEMBL: ENSMUSP00000131692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046521] [ENSMUST00000166341]
AlphaFold Q9D219
Predicted Effect possibly damaging
Transcript: ENSMUST00000046521
AA Change: F1425L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: F1425L

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 possibly damaging
Transcript: ENSMUST00000166341
AA Change: F1425L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: F1425L

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,791,264 (GRCm39) F99S probably damaging Het
Ankrd17 G A 5: 90,430,974 (GRCm39) P937S probably benign Het
Apom T G 17: 35,349,471 (GRCm39) probably null Het
Baz2b A G 2: 59,778,604 (GRCm39) I752T possibly damaging Het
Bcat1 T C 6: 144,964,914 (GRCm39) probably benign Het
Bco1 G A 8: 117,844,242 (GRCm39) V319M possibly damaging Het
Dmwd C A 7: 18,814,769 (GRCm39) T473K probably benign Het
Garin4 T C 1: 190,896,499 (GRCm39) Y48C probably damaging Het
Gata2 C T 6: 88,182,346 (GRCm39) A438V possibly damaging Het
Ifnz A G 4: 88,701,574 (GRCm39) probably benign Het
Myh14 T C 7: 44,257,960 (GRCm39) I1859V possibly damaging Het
Ndn A G 7: 61,998,856 (GRCm39) D234G probably damaging Het
Nfe2l3 T C 6: 51,410,098 (GRCm39) L71P probably damaging Het
Nfia T G 4: 97,671,605 (GRCm39) L105R probably damaging Het
Npy2r T A 3: 82,448,056 (GRCm39) T127S probably benign Het
Or51a8 T C 7: 102,550,449 (GRCm39) Y292H probably damaging Het
Or7g12 T A 9: 18,899,696 (GRCm39) N137K probably benign Het
Ppip5k2 A T 1: 97,686,924 (GRCm39) C94S probably damaging Het
Pramel26 A G 4: 143,537,372 (GRCm39) S320P probably damaging Het
Slc1a6 T C 10: 78,637,788 (GRCm39) V438A probably damaging Het
Slc6a7 C T 18: 61,142,500 (GRCm39) G71R probably damaging Het
Styk1 C T 6: 131,289,546 (GRCm39) V23I probably benign Het
Tmprss5 C A 9: 49,018,447 (GRCm39) N92K probably benign Het
Trpm6 T G 19: 18,754,097 (GRCm39) probably null Het
Ttn C T 2: 76,677,114 (GRCm39) probably benign Het
Tut7 A G 13: 59,937,017 (GRCm39) F808S probably damaging Het
Vmn2r109 G A 17: 20,774,062 (GRCm39) A431V probably benign Het
Wdr17 C T 8: 55,101,250 (GRCm39) probably null Het
Zfp407 G T 18: 84,577,156 (GRCm39) S1319* probably null 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
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
R5770:Bcl9 UTSW 3 97,122,491 (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
Posted On 2015-04-16