Incidental Mutation 'IGL01396:Bcl9l'
ID 79452
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 # IGL01396
Quality Score
Status
Chromosome 9
Chromosomal Location 44394122-44423193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44418121 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q67FY2
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: 88,120,649 (GRCm39) Y469N probably benign Het
Actl11 T C 9: 107,805,964 (GRCm39) S96P possibly damaging Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gas7 T A 11: 67,543,740 (GRCm39) probably null Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hdac4 T C 1: 91,887,196 (GRCm39) probably benign Het
Hif1a T A 12: 73,987,307 (GRCm39) S467T probably benign Het
Ier5 A G 1: 154,974,296 (GRCm39) V294A probably damaging Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R 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
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 2013-11-05