Incidental Mutation 'IGL01965:Bcl10'
ID 182506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl10
Ensembl Gene ENSMUSG00000028191
Gene Name B cell leukemia/lymphoma 10
Synonyms mE10, cE10, BCL-10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01965
Quality Score
Status
Chromosome 3
Chromosomal Location 145630017-145640121 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 145638939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 194 (R194*)
Ref Sequence ENSEMBL: ENSMUSP00000029842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029842] [ENSMUST00000039571] [ENSMUST00000134575]
AlphaFold Q9Z0H7
Predicted Effect probably null
Transcript: ENSMUST00000029842
AA Change: R194*
SMART Domains Protein: ENSMUSP00000029842
Gene: ENSMUSG00000028191
AA Change: R194*

DomainStartEndE-ValueType
Pfam:CARD 18 102 8e-20 PFAM
low complexity region 192 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039571
SMART Domains Protein: ENSMUSP00000045376
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 20 125 2.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134575
SMART Domains Protein: ENSMUSP00000119149
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 19 97 2.4e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: About one-third of homozygous null embryos die exhibiting exencephaly. Surviving mutants display immunological defects including severe immunodeficiency, abnormal B cell development and function, and impaired humoral response to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,633,078 (GRCm39) noncoding transcript Het
Adm C T 7: 110,227,832 (GRCm39) L67F probably benign Het
Brat1 T C 5: 140,703,811 (GRCm39) V688A probably benign Het
Cep57 T A 9: 13,732,816 (GRCm39) probably benign Het
Dhx57 G A 17: 80,576,279 (GRCm39) R604W probably damaging Het
Fndc3a A G 14: 72,777,842 (GRCm39) I1121T probably benign Het
Fry A G 5: 150,305,086 (GRCm39) E597G probably damaging Het
Gabra2 A G 5: 71,165,418 (GRCm39) probably benign Het
Golgb1 A G 16: 36,738,282 (GRCm39) D2207G probably damaging Het
Htr4 T A 18: 62,570,740 (GRCm39) M265K probably damaging Het
Igf2r C T 17: 12,923,225 (GRCm39) V1195M probably benign Het
Itga2 C A 13: 114,984,600 (GRCm39) probably benign Het
Itih3 T C 14: 30,637,677 (GRCm39) H494R probably damaging Het
Itpkb C A 1: 180,159,970 (GRCm39) T32K probably damaging Het
Kif16b A T 2: 142,690,325 (GRCm39) D252E probably damaging Het
Klhl33 A G 14: 51,129,187 (GRCm39) Y681H probably damaging Het
Lats1 T A 10: 7,577,470 (GRCm39) V198E probably benign Het
Me3 A G 7: 89,500,951 (GRCm39) D554G probably benign Het
Mindy4 C T 6: 55,237,517 (GRCm39) probably benign Het
Nipa2 G A 7: 55,594,371 (GRCm39) probably benign Het
Or4c116 G A 2: 88,942,535 (GRCm39) T107I probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or5d14 A G 2: 87,880,780 (GRCm39) F63L probably benign Het
Or8b51 A T 9: 38,568,918 (GRCm39) F257I probably benign Het
Ptgis A T 2: 167,050,173 (GRCm39) W319R probably benign Het
Pygl C T 12: 70,237,888 (GRCm39) A717T probably benign Het
Rbbp8 A T 18: 11,855,317 (GRCm39) K514I probably benign Het
Scn9a A T 2: 66,314,777 (GRCm39) L1636H probably damaging Het
Serpina3j A G 12: 104,281,063 (GRCm39) T79A probably benign Het
Sfxn4 A G 19: 60,847,182 (GRCm39) probably benign Het
Shc2 T A 10: 79,463,023 (GRCm39) probably benign Het
Sim2 A T 16: 93,922,037 (GRCm39) Y294F probably benign Het
Tep1 A G 14: 51,100,952 (GRCm39) probably benign Het
Ubr1 A G 2: 120,705,879 (GRCm39) L1528P probably damaging Het
Usp53 A G 3: 122,754,802 (GRCm39) probably null Het
Vmn2r87 G T 10: 130,314,924 (GRCm39) L221I possibly damaging Het
Other mutations in Bcl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
Derek UTSW 3 145,636,342 (GRCm39) missense probably damaging 1.00
R1161:Bcl10 UTSW 3 145,636,180 (GRCm39) missense probably damaging 0.99
R1310:Bcl10 UTSW 3 145,636,180 (GRCm39) missense probably damaging 0.99
R2570:Bcl10 UTSW 3 145,638,785 (GRCm39) missense probably benign 0.13
R4669:Bcl10 UTSW 3 145,636,327 (GRCm39) missense probably damaging 1.00
R5301:Bcl10 UTSW 3 145,636,342 (GRCm39) missense probably damaging 1.00
R5691:Bcl10 UTSW 3 145,638,904 (GRCm39) missense probably benign 0.03
R7008:Bcl10 UTSW 3 145,639,054 (GRCm39) missense probably benign 0.05
R7384:Bcl10 UTSW 3 145,638,795 (GRCm39) missense possibly damaging 0.90
R7853:Bcl10 UTSW 3 145,630,266 (GRCm39) missense possibly damaging 0.90
R8698:Bcl10 UTSW 3 145,639,022 (GRCm39) missense probably benign
Z1176:Bcl10 UTSW 3 145,636,268 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07