Incidental Mutation 'R3081:Bcl9'
ID 265415
Institutional Source Beutler Lab
Gene Symbol Bcl9
Ensembl Gene ENSMUSG00000038256
Gene Name B cell CLL/lymphoma 9
Synonyms 2610202E01Rik, A330041G23Rik, 8030475K17Rik
MMRRC Submission 040571-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R3081 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 97110978-97205233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97112989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1155 (N1155K)
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: N1155K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: N1155K

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 possibly damaging
Transcript: ENSMUST00000166341
AA Change: N1155K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: N1155K

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
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamdc T A 7: 97,214,432 (GRCm39) T48S probably benign Het
Abcc3 T A 11: 94,247,802 (GRCm39) L1230F probably damaging Het
Abcf3 T A 16: 20,378,114 (GRCm39) I542N probably benign Het
Als2 A G 1: 59,226,508 (GRCm39) L932P probably damaging Het
Arhgap45 G A 10: 79,862,281 (GRCm39) R583H probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cdkn2aip T C 8: 48,164,532 (GRCm39) K394E probably damaging Het
Cfap70 A G 14: 20,470,830 (GRCm39) Y472H probably damaging Het
Cfap77 T A 2: 28,852,662 (GRCm39) K203N probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Coro6 T C 11: 77,359,738 (GRCm39) F336S probably damaging Het
Derl1 C A 15: 57,739,007 (GRCm39) probably benign Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock2 T A 11: 34,181,610 (GRCm39) H1651L probably benign Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Dzip3 T C 16: 48,747,921 (GRCm39) H1163R probably damaging Het
Efcab9 T C 11: 32,473,689 (GRCm39) D35G probably benign Het
Evpl T C 11: 116,111,678 (GRCm39) D2004G probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fastkd3 T C 13: 68,732,987 (GRCm39) V436A probably benign Het
Fbxl5 A G 5: 43,908,222 (GRCm39) Y660H probably damaging Het
Glt8d1 T C 14: 30,728,617 (GRCm39) V15A probably benign Het
Gpr25 A C 1: 136,187,623 (GRCm39) I330S possibly damaging Het
Hdac5 A T 11: 102,096,436 (GRCm39) V257E probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Mgat3 A G 15: 80,096,055 (GRCm39) D294G probably benign Het
Mylk2 A G 2: 152,761,274 (GRCm39) N459S probably benign Het
Myo3b A C 2: 70,086,927 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,961 (GRCm39) T521A probably benign Het
Nfxl1 C T 5: 72,686,378 (GRCm39) A608T possibly damaging Het
Nmd3 A G 3: 69,631,732 (GRCm39) probably benign Het
Nol8 C T 13: 49,831,868 (GRCm39) probably benign Het
Or1e29 A T 11: 73,668,051 (GRCm39) M34K probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8b42 T A 9: 38,342,352 (GRCm39) M258K possibly damaging Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcdhgb2 T C 18: 37,824,566 (GRCm39) F519S probably damaging Het
Phf11c A G 14: 59,618,933 (GRCm39) V284A probably benign Het
Rasl11a G T 5: 146,784,113 (GRCm39) C186F probably benign Het
Rps18-ps3 T C 8: 107,989,469 (GRCm39) noncoding transcript Het
Rusc1 A G 3: 88,999,030 (GRCm39) S251P possibly damaging Het
Rxfp3 T C 15: 11,037,303 (GRCm39) E23G probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc22a4 A G 11: 53,898,615 (GRCm39) V159A probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Stip1 C T 19: 7,013,016 (GRCm39) A23T probably benign Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmed4 T C 11: 6,224,151 (GRCm39) H115R probably benign Het
Tmem255b T A 8: 13,501,048 (GRCm39) L74H probably damaging Het
Trav6n-5 A T 14: 53,342,741 (GRCm39) H93L possibly damaging Het
Tsen54 T A 11: 115,710,990 (GRCm39) D187E probably benign Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Vmn2r88 A G 14: 51,656,089 (GRCm39) N775S probably damaging Het
Vps13a G T 19: 16,642,101 (GRCm39) N2175K probably benign Het
Wnk4 A G 11: 101,167,717 (GRCm39) probably benign Het
Zfp180 A T 7: 23,804,928 (GRCm39) Q449L 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
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
Predicted Primers PCR Primer
(F):5'- AGATCTGGGTCTGTAAACACGG -3'
(R):5'- TCTCACTCCAATCAGATGCC -3'

Sequencing Primer
(F):5'- ACGGAGGGCATGCTGTTC -3'
(R):5'- TCCTAATGCCATGGGACCCAG -3'
Posted On 2015-02-05