Incidental Mutation 'IGL01396:Bcl9l'
ID79452
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 #IGL01396
Quality Score
Status
Chromosome9
Chromosomal Location44482825-44511896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44506824 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 653 (R653H)
Ref Sequence ENSEMBL: ENSMUSP00000151342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062215] [ENSMUST00000074989] [ENSMUST00000179828] [ENSMUST00000215293] [ENSMUST00000218183] [ENSMUST00000220303]
Predicted Effect probably benign
Transcript: ENSMUST00000062215
SMART Domains Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 8.9e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074989
AA Change: R690H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: R690H

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 benign
Transcript: ENSMUST00000179828
SMART Domains Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 1.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215293
Predicted Effect probably damaging
Transcript: ENSMUST00000218183
AA Change: R690H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000220303
AA Change: R653H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 87,972,790 Y469N probably benign Het
Actl11 T C 9: 107,928,765 S96P possibly damaging Het
Ankrd13b T A 11: 77,472,372 probably null Het
Apobec4 T A 1: 152,756,266 I15K probably damaging Het
Arhgef28 G T 13: 97,953,893 D1039E probably damaging Het
Atp1a1 C T 3: 101,591,453 G175R probably damaging Het
AU040320 T A 4: 126,869,378 probably benign Het
Ccdc141 T A 2: 77,128,325 I144L possibly damaging Het
Cdh20 C T 1: 104,947,429 T312I possibly damaging Het
Cdh23 C T 10: 60,385,069 V1297I possibly damaging Het
Cfap57 T C 4: 118,610,595 Y315C probably damaging Het
Chd8 A G 14: 52,204,587 probably benign Het
Cog5 A G 12: 31,894,096 D660G probably benign Het
Cps1 T C 1: 67,157,786 I332T probably damaging Het
Csgalnact2 T C 6: 118,126,327 T225A probably damaging Het
Dchs1 A G 7: 105,772,283 L310P probably damaging Het
Dgki T C 6: 37,000,090 N695S probably damaging Het
Gas7 T A 11: 67,652,914 probably null Het
Gm21286 T C 4: 60,838,324 noncoding transcript Het
Gm4799 C T 10: 82,954,684 noncoding transcript Het
Hdac4 T C 1: 91,959,474 probably benign Het
Hif1a T A 12: 73,940,533 S467T probably benign Het
Ier5 A G 1: 155,098,550 V294A probably damaging Het
Ifna11 T C 4: 88,820,077 V40A probably benign Het
Itga9 T C 9: 118,607,123 probably benign Het
Lbx1 G T 19: 45,234,231 Q118K probably benign Het
Lta A T 17: 35,204,085 probably null Het
Matr3 A G 18: 35,588,389 Y471C probably damaging Het
Nrg2 A T 18: 36,045,852 probably benign Het
Olfr1156 G T 2: 87,949,863 F123L probably damaging Het
Olfr1195 C T 2: 88,683,231 C167Y probably damaging Het
Olfr1301 T A 2: 111,754,603 M118K probably damaging Het
Olfr1301 T C 2: 111,754,503 F85L probably benign Het
Patl1 A G 19: 11,923,883 K299R probably damaging Het
Pdgfrb A G 18: 61,072,664 E574G probably damaging Het
Phf3 G A 1: 30,804,305 Q1858* probably null Het
Prkca T C 11: 108,014,322 K197E possibly damaging Het
Psmc6 C A 14: 45,343,667 Q307K probably benign Het
Rasa1 T C 13: 85,258,442 I181V probably benign Het
Scel A G 14: 103,608,094 probably benign Het
Scn5a A T 9: 119,534,704 S457T probably damaging Het
Sesn3 A G 9: 14,321,078 T216A probably benign Het
Slc25a21 A G 12: 57,159,189 V19A probably benign Het
Slc34a1 A G 13: 55,402,733 T81A probably damaging Het
Slc35a5 A G 16: 45,151,503 Y117H probably damaging Het
Sptbn4 A G 7: 27,414,771 V569A probably benign Het
Sqle A G 15: 59,323,874 Y333C probably damaging Het
Svep1 T C 4: 58,068,552 E3078G possibly damaging Het
Tacc2 T A 7: 130,759,189 I2737N probably damaging Het
Tet3 A T 6: 83,369,638 Y1272* probably null Het
Tnr G T 1: 159,897,024 R1095L possibly damaging Het
Vmn1r184 T C 7: 26,267,437 S203P probably damaging Het
Vmn2r94 A G 17: 18,257,039 L370P probably damaging Het
Xrcc5 A G 1: 72,354,245 H559R probably benign 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
IGL02015:Bcl9l APN 9 44508801 unclassified probably null
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 On2013-11-05