Incidental Mutation 'IGL02884:Bcl9'
ID 362928
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 # IGL02884
Quality Score
Status
Chromosome 3
Chromosomal Location 97110978-97205233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97117368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 442 (P442L)
Ref Sequence ENSEMBL: ENSMUSP00000131692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046521] [ENSMUST00000166341]
AlphaFold Q9D219
Predicted Effect probably damaging
Transcript: ENSMUST00000046521
AA Change: P442L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: P442L

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: ENSMUST00000141861
Predicted Effect probably damaging
Transcript: ENSMUST00000166341
AA Change: P442L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: P442L

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R 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
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 2015-12-18