Incidental Mutation 'IGL02931:Bcl9l'
ID 364099
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 # IGL02931
Quality Score
Status
Chromosome 9
Chromosomal Location 44394122-44423193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44412047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 11 (P11L)
Ref Sequence ENSEMBL: ENSMUSP00000151653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074989] [ENSMUST00000218183] [ENSMUST00000218913] [ENSMUST00000220303]
AlphaFold Q67FY2
Predicted Effect possibly damaging
Transcript: ENSMUST00000074989
AA Change: P11L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: P11L

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: P11L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000218913
AA Change: P11L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220292
Predicted Effect probably benign
Transcript: ENSMUST00000220303
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L 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
IGL01011:Bcl9l APN 9 44,416,476 (GRCm39) missense possibly damaging 0.85
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
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 2015-12-18