Incidental Mutation 'IGL01011:Bcl9l'
ID 53757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl9l
Ensembl Gene ENSMUSG00000063382
Gene Name B cell CLL/lymphoma 9-like
Synonyms DLNB11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01011
Quality Score
Status
Chromosome 9
Chromosomal Location 44394122-44423193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44416476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 183 (D183G)
Ref Sequence ENSEMBL: ENSMUSP00000151342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074989] [ENSMUST00000218183] [ENSMUST00000218913] [ENSMUST00000220303]
AlphaFold Q67FY2
Predicted Effect possibly damaging
Transcript: ENSMUST00000074989
AA Change: D220G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: D220G

DomainStartEndE-ValueType
low complexity region 215 234 N/A INTRINSIC
PDB:2XB1|C 236 269 2e-14 PDB
low complexity region 278 292 N/A INTRINSIC
low complexity region 297 325 N/A INTRINSIC
low complexity region 337 376 N/A INTRINSIC
Pfam:BCL9 395 432 2.4e-18 PFAM
low complexity region 490 507 N/A INTRINSIC
low complexity region 521 534 N/A INTRINSIC
low complexity region 546 560 N/A INTRINSIC
low complexity region 590 602 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
low complexity region 835 852 N/A INTRINSIC
low complexity region 1042 1059 N/A INTRINSIC
low complexity region 1114 1127 N/A INTRINSIC
low complexity region 1167 1178 N/A INTRINSIC
low complexity region 1232 1245 N/A INTRINSIC
low complexity region 1262 1273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217898
Predicted Effect possibly damaging
Transcript: ENSMUST00000218183
AA Change: D220G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000218913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220292
Predicted Effect possibly damaging
Transcript: ENSMUST00000220303
AA Change: D183G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,529 (GRCm39) C282S probably damaging Het
Abca12 T C 1: 71,302,791 (GRCm39) I2143V probably benign Het
Adgrg6 A C 10: 14,285,542 (GRCm39) I1148S probably damaging Het
Aox4 C T 1: 58,279,934 (GRCm39) R517* probably null Het
Arnt2 T A 7: 83,935,037 (GRCm39) D289V probably benign Het
Atad2b A G 12: 5,015,984 (GRCm39) N570S probably benign Het
Aven G A 2: 112,460,130 (GRCm39) D208N possibly damaging Het
Cd300lf A G 11: 115,015,159 (GRCm39) S144P probably benign Het
Chd8 C A 14: 52,468,989 (GRCm39) G543V possibly damaging Het
Chrm2 A G 6: 36,501,373 (GRCm39) N410S probably benign Het
Clip4 A G 17: 72,156,934 (GRCm39) I590V probably benign Het
Cnbp C T 6: 87,822,682 (GRCm39) R27H probably benign Het
Col4a3 T C 1: 82,660,022 (GRCm39) V889A unknown Het
Cxcl5 T C 5: 90,908,382 (GRCm39) probably benign Het
Dennd6a G T 14: 26,324,209 (GRCm39) V171F probably damaging Het
Dhx38 T C 8: 110,289,323 (GRCm39) I26V probably benign Het
Dscaml1 A G 9: 45,594,970 (GRCm39) D691G possibly damaging Het
Etfdh A T 3: 79,519,368 (GRCm39) probably benign Het
Fbn2 G A 18: 58,228,312 (GRCm39) probably benign Het
Foxp2 T A 6: 15,438,018 (GRCm39) *715R probably null Het
Ftl1 A T 7: 45,108,070 (GRCm39) D65E probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gm20721 A G 2: 174,187,531 (GRCm39) D1049G probably damaging Het
Gm28778 T C 1: 53,338,277 (GRCm39) V47A probably benign Het
Gm5414 T C 15: 101,536,569 (GRCm39) S19G probably benign Het
H1f6 C T 13: 23,880,032 (GRCm39) L62F probably damaging Het
Hdac7 T A 15: 97,691,816 (GRCm39) E835D possibly damaging Het
Hspg2 C T 4: 137,286,646 (GRCm39) T3663I probably damaging Het
Kdm4d A T 9: 14,375,515 (GRCm39) D114E probably benign Het
Kif5a A T 10: 127,075,065 (GRCm39) V516E probably benign Het
Lrrtm1 A G 6: 77,221,218 (GRCm39) probably null Het
Miga1 G T 3: 151,982,327 (GRCm39) T519K probably benign Het
Mtfr1l G A 4: 134,256,511 (GRCm39) P182S probably damaging Het
Myo15a A G 11: 60,367,818 (GRCm39) I193V probably benign Het
Myo1e T C 9: 70,223,871 (GRCm39) probably benign Het
Or13a26 A T 7: 140,284,350 (GRCm39) Y62F probably damaging Het
Or1e1c A T 11: 73,265,833 (GRCm39) Q86L probably benign Het
Or5h22 T A 16: 58,894,793 (GRCm39) T217S probably benign Het
Pias1 T C 9: 62,820,137 (GRCm39) T277A probably benign Het
Skic3 G A 13: 76,270,784 (GRCm39) C127Y probably damaging Het
Slamf6 T A 1: 171,765,666 (GRCm39) H263Q probably benign Het
Snrnp48 A G 13: 38,404,740 (GRCm39) D202G probably damaging Het
Snx13 T A 12: 35,148,279 (GRCm39) D269E probably damaging Het
Tiam2 A T 17: 3,465,303 (GRCm39) D344V probably benign Het
Tmem62 G T 2: 120,809,700 (GRCm39) K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,797,492 (GRCm39) T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,285,041 (GRCm39) T39M possibly damaging Het
Trio T C 15: 27,736,575 (GRCm39) D2794G probably damaging Het
Trpc7 C T 13: 56,952,353 (GRCm39) G551D probably damaging Het
Ttn A G 2: 76,644,634 (GRCm39) V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 (GRCm39) probably benign Het
Ubap2l G A 3: 89,916,563 (GRCm39) Q915* probably null Het
Ubfd1 A G 7: 121,677,695 (GRCm39) E340G probably benign Het
Vil1 T C 1: 74,474,046 (GRCm39) probably null Het
Vmn1r6 T G 6: 56,979,529 (GRCm39) L42V probably benign Het
Vps13c A G 9: 67,834,237 (GRCm39) T1635A probably damaging Het
Zfhx3 T A 8: 109,520,226 (GRCm39) H449Q probably benign Het
Zfp750 A T 11: 121,403,922 (GRCm39) S318T probably benign Het
Other mutations in Bcl9l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Bcl9l APN 9 44,416,924 (GRCm39) missense possibly damaging 0.86
IGL00969:Bcl9l APN 9 44,419,539 (GRCm39) missense possibly damaging 0.79
IGL01396:Bcl9l APN 9 44,418,121 (GRCm39) missense probably damaging 0.99
IGL02015:Bcl9l APN 9 44,420,098 (GRCm39) splice site probably null
IGL02106:Bcl9l APN 9 44,420,496 (GRCm39) missense probably benign 0.03
IGL02310:Bcl9l APN 9 44,420,602 (GRCm39) missense probably damaging 1.00
IGL02447:Bcl9l APN 9 44,418,631 (GRCm39) missense probably benign 0.09
IGL02534:Bcl9l APN 9 44,417,036 (GRCm39) missense probably benign 0.00
IGL02541:Bcl9l APN 9 44,419,066 (GRCm39) missense probably benign 0.02
IGL02688:Bcl9l APN 9 44,416,560 (GRCm39) missense possibly damaging 0.86
IGL02931:Bcl9l APN 9 44,412,047 (GRCm39) missense probably damaging 0.96
R0098:Bcl9l UTSW 9 44,416,914 (GRCm39) missense probably benign
R0142:Bcl9l UTSW 9 44,418,409 (GRCm39) missense probably benign 0.09
R0193:Bcl9l UTSW 9 44,418,703 (GRCm39) missense probably damaging 1.00
R0227:Bcl9l UTSW 9 44,416,533 (GRCm39) missense possibly damaging 0.96
R0481:Bcl9l UTSW 9 44,417,979 (GRCm39) missense probably benign
R0496:Bcl9l UTSW 9 44,420,815 (GRCm39) missense probably benign 0.00
R1741:Bcl9l UTSW 9 44,420,986 (GRCm39) missense probably damaging 0.99
R1971:Bcl9l UTSW 9 44,419,996 (GRCm39) splice site probably null
R1976:Bcl9l UTSW 9 44,417,449 (GRCm39) missense possibly damaging 0.76
R4415:Bcl9l UTSW 9 44,413,176 (GRCm39) missense possibly damaging 0.83
R4751:Bcl9l UTSW 9 44,418,100 (GRCm39) missense probably damaging 0.99
R4810:Bcl9l UTSW 9 44,419,650 (GRCm39) missense probably damaging 1.00
R4880:Bcl9l UTSW 9 44,420,007 (GRCm39) missense probably benign 0.01
R4967:Bcl9l UTSW 9 44,416,365 (GRCm39) missense possibly damaging 0.85
R5418:Bcl9l UTSW 9 44,416,733 (GRCm39) missense possibly damaging 0.53
R5572:Bcl9l UTSW 9 44,412,095 (GRCm39) missense possibly damaging 0.66
R5658:Bcl9l UTSW 9 44,420,466 (GRCm39) missense probably damaging 1.00
R5812:Bcl9l UTSW 9 44,417,941 (GRCm39) missense probably benign 0.01
R6515:Bcl9l UTSW 9 44,419,171 (GRCm39) splice site probably null
R6670:Bcl9l UTSW 9 44,418,369 (GRCm39) small insertion probably benign
R6682:Bcl9l UTSW 9 44,412,400 (GRCm39) missense possibly damaging 0.91
R6966:Bcl9l UTSW 9 44,420,685 (GRCm39) nonsense probably null
R7171:Bcl9l UTSW 9 44,416,448 (GRCm39) missense probably benign 0.33
R7338:Bcl9l UTSW 9 44,420,005 (GRCm39) missense probably benign
R7448:Bcl9l UTSW 9 44,420,634 (GRCm39) missense probably benign 0.00
R7609:Bcl9l UTSW 9 44,417,044 (GRCm39) missense probably damaging 0.99
R7793:Bcl9l UTSW 9 44,420,994 (GRCm39) missense probably damaging 0.97
R7793:Bcl9l UTSW 9 44,420,263 (GRCm39) missense probably benign 0.00
R8372:Bcl9l UTSW 9 44,418,528 (GRCm39) missense probably benign
R8491:Bcl9l UTSW 9 44,412,065 (GRCm39) missense probably benign 0.02
R8769:Bcl9l UTSW 9 44,420,263 (GRCm39) missense probably benign 0.01
R8945:Bcl9l UTSW 9 44,412,238 (GRCm39) missense possibly damaging 0.70
R9355:Bcl9l UTSW 9 44,419,000 (GRCm39) missense probably benign 0.09
R9562:Bcl9l UTSW 9 44,412,076 (GRCm39) missense possibly damaging 0.68
R9564:Bcl9l UTSW 9 44,420,554 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28