Incidental Mutation 'IGL02015:Bcl9l'
ID183701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl9l
Ensembl Gene ENSMUSG00000063382
Gene NameB cell CLL/lymphoma 9-like
SynonymsDLNB11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02015
Quality Score
Status
Chromosome9
Chromosomal Location44482825-44511896 bp(+) (GRCm38)
Type of Mutationunclassified (2986 bp from exon)
DNA Base Change (assembly) C to A at 44508801 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062215] [ENSMUST00000074989] [ENSMUST00000179828] [ENSMUST00000215293] [ENSMUST00000218183] [ENSMUST00000220303]
Predicted Effect probably null
Transcript: ENSMUST00000062215
SMART Domains Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 8.9e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074989
AA Change: P1168H

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: P1168H

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 probably null
Transcript: ENSMUST00000179828
SMART Domains Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 1.7e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215293
Predicted Effect possibly damaging
Transcript: ENSMUST00000218183
AA Change: P1168H

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220303
AA Change: P1131H

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Bcl9l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Bcl9l APN 9 44505627 missense possibly damaging 0.86
IGL00969:Bcl9l APN 9 44508242 missense possibly damaging 0.79
IGL01011:Bcl9l APN 9 44505179 missense possibly damaging 0.85
IGL01396:Bcl9l APN 9 44506824 missense probably damaging 0.99
IGL02106:Bcl9l APN 9 44509199 missense probably benign 0.03
IGL02310:Bcl9l APN 9 44509305 missense probably damaging 1.00
IGL02447:Bcl9l APN 9 44507334 missense probably benign 0.09
IGL02534:Bcl9l APN 9 44505739 missense probably benign 0.00
IGL02541:Bcl9l APN 9 44507769 missense probably benign 0.02
IGL02688:Bcl9l APN 9 44505263 missense possibly damaging 0.86
IGL02931:Bcl9l APN 9 44500750 missense probably damaging 0.96
R0098:Bcl9l UTSW 9 44505617 missense probably benign
R0142:Bcl9l UTSW 9 44507112 missense probably benign 0.09
R0193:Bcl9l UTSW 9 44507406 missense probably damaging 1.00
R0227:Bcl9l UTSW 9 44505236 missense possibly damaging 0.96
R0481:Bcl9l UTSW 9 44506682 missense probably benign
R0496:Bcl9l UTSW 9 44509518 missense probably benign 0.00
R1741:Bcl9l UTSW 9 44509689 missense probably damaging 0.99
R1971:Bcl9l UTSW 9 44508699 unclassified probably null
R1976:Bcl9l UTSW 9 44506152 missense possibly damaging 0.76
R4415:Bcl9l UTSW 9 44501879 missense possibly damaging 0.83
R4751:Bcl9l UTSW 9 44506803 missense probably damaging 0.99
R4810:Bcl9l UTSW 9 44508353 missense probably damaging 1.00
R4880:Bcl9l UTSW 9 44508710 missense probably benign 0.01
R4967:Bcl9l UTSW 9 44505068 missense possibly damaging 0.85
R5418:Bcl9l UTSW 9 44505436 missense possibly damaging 0.53
R5572:Bcl9l UTSW 9 44500798 missense possibly damaging 0.66
R5658:Bcl9l UTSW 9 44509169 missense probably damaging 1.00
R5812:Bcl9l UTSW 9 44506644 missense probably benign 0.01
R6515:Bcl9l UTSW 9 44507874 splice site probably null
R6670:Bcl9l UTSW 9 44507072 small insertion probably benign
R6682:Bcl9l UTSW 9 44501103 missense possibly damaging 0.91
R6966:Bcl9l UTSW 9 44509388 nonsense probably null
R7171:Bcl9l UTSW 9 44505151 missense probably benign 0.33
R7338:Bcl9l UTSW 9 44508708 missense probably benign
R7448:Bcl9l UTSW 9 44509337 missense probably benign 0.00
R7609:Bcl9l UTSW 9 44505747 missense probably damaging 0.99
R7793:Bcl9l UTSW 9 44508966 missense probably benign 0.00
R7793:Bcl9l UTSW 9 44509697 missense probably damaging 0.97
Posted On2014-05-07