Incidental Mutation 'R7008:Bcl10'
ID 544817
Institutional Source Beutler Lab
Gene Symbol Bcl10
Ensembl Gene ENSMUSG00000028191
Gene Name B cell leukemia/lymphoma 10
Synonyms mE10, cE10, BCL-10
MMRRC Submission 045110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 145630017-145640121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 145639054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 232 (R232L)
Ref Sequence ENSEMBL: ENSMUSP00000029842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029842] [ENSMUST00000039571] [ENSMUST00000134575]
AlphaFold Q9Z0H7
Predicted Effect probably benign
Transcript: ENSMUST00000029842
AA Change: R232L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029842
Gene: ENSMUSG00000028191
AA Change: R232L

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
Predicted Effect probably benign
Transcript: ENSMUST00000152783
SMART Domains Protein: ENSMUSP00000118224
Gene: ENSMUSG00000036873

DomainStartEndE-ValueType
Pfam:DUF4660 1 53 6.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190472
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T A 5: 90,407,955 (GRCm39) I1421F possibly damaging Het
Arhgef11 C A 3: 87,636,525 (GRCm39) T992K possibly damaging Het
Arid1b T C 17: 5,341,254 (GRCm39) Y853H probably damaging Het
Best2 T A 8: 85,739,840 (GRCm39) I76F possibly damaging Het
Card11 G C 5: 140,859,148 (GRCm39) R1133G probably damaging Het
Card9 T C 2: 26,247,811 (GRCm39) D180G possibly damaging Het
Ccdc162 T A 10: 41,428,411 (GRCm39) E119V probably damaging Het
Ccdc168 T C 1: 44,098,785 (GRCm39) D771G probably benign Het
Cd2bp2 T C 7: 126,794,567 (GRCm39) D15G possibly damaging Het
Cdk7 A C 13: 100,854,129 (GRCm39) M120R probably damaging Het
Cryba4 T A 5: 112,399,648 (GRCm39) T2S probably benign Het
Cyp19a1 A T 9: 54,100,609 (GRCm39) M26K probably benign Het
Dgcr2 A G 16: 17,662,865 (GRCm39) S157P probably damaging Het
Dis3l A G 9: 64,217,735 (GRCm39) F782S possibly damaging Het
Ephb4 T A 5: 137,359,536 (GRCm39) S369T probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
H1f4 T C 13: 23,806,192 (GRCm39) K97E probably damaging Het
Igf2bp2 A T 16: 21,900,582 (GRCm39) D118E probably benign Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Klhl5 T C 5: 65,300,592 (GRCm39) S52P probably benign Het
Lrrc28 A T 7: 67,245,459 (GRCm39) probably benign Het
Map4k4 T G 1: 40,028,131 (GRCm39) D317E probably benign Het
Maz A T 7: 126,623,784 (GRCm39) C66S probably damaging Het
Mbd4 T C 6: 115,827,685 (GRCm39) T43A possibly damaging Het
Milr1 T A 11: 106,642,140 (GRCm39) S11T probably damaging Het
Mthfd2l T A 5: 91,107,587 (GRCm39) C150S probably damaging Het
Nemf A T 12: 69,388,395 (GRCm39) N325K possibly damaging Het
Nemf C T 12: 69,400,567 (GRCm39) probably null Het
Nod2 T A 8: 89,390,285 (GRCm39) C197* probably null Het
Odf2l A G 3: 144,838,495 (GRCm39) K241E probably damaging Het
Or4z4 G A 19: 12,076,214 (GRCm39) T263I possibly damaging Het
Or5b124 A T 19: 13,610,985 (GRCm39) N170I probably damaging Het
Osbpl10 T G 9: 114,890,916 (GRCm39) D101E probably damaging Het
Osgin1 T C 8: 120,168,233 (GRCm39) V20A possibly damaging Het
Pan3 T A 5: 147,482,503 (GRCm39) C438S probably damaging Het
Plaa A G 4: 94,457,586 (GRCm39) *795Q probably null Het
Prss35 T C 9: 86,638,361 (GRCm39) V377A probably benign Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rdh16f1 A G 10: 127,626,775 (GRCm39) H276R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sez6l T C 5: 112,612,561 (GRCm39) Y460C probably damaging Het
Sipa1l1 T G 12: 82,409,886 (GRCm39) M600R probably damaging Het
Slc11a2 T C 15: 100,307,205 (GRCm39) Y92C probably damaging Het
Slc4a10 A G 2: 62,117,266 (GRCm39) T712A probably benign Het
Sntb1 A T 15: 55,655,468 (GRCm39) Y249* probably null Het
Spatc1 A G 15: 76,167,923 (GRCm39) I127M probably benign Het
Sting1 C A 18: 35,868,224 (GRCm39) R292L probably damaging Het
Synj1 A T 16: 90,790,833 (GRCm39) N109K probably damaging Het
Tdg T A 10: 82,484,475 (GRCm39) M396K possibly damaging Het
Tmem252 T C 19: 24,651,656 (GRCm39) V75A probably damaging Het
Trim40 T C 17: 37,194,868 (GRCm39) Q142R probably damaging Het
Trip6 T C 5: 137,311,228 (GRCm39) T163A probably damaging Het
Ttn T C 2: 76,724,986 (GRCm39) probably benign Het
Wdr95 T C 5: 149,535,005 (GRCm39) L721P probably benign Het
Zfp385c A T 11: 100,521,513 (GRCm39) D182E probably damaging Het
Zfp597 A G 16: 3,683,631 (GRCm39) F375S probably benign Het
Zfp658 T G 7: 43,223,336 (GRCm39) F537C possibly damaging Het
Zgrf1 T C 3: 127,355,421 (GRCm39) F216L probably benign Het
Other mutations in Bcl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Bcl10 APN 3 145,638,939 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCATCCACTGTCATGTACCAC -3'
(R):5'- CATGATTTACACCACGCCGC -3'

Sequencing Primer
(F):5'- ACTGTCATGTACCACCCGGAG -3'
(R):5'- GCCCCAGAGCGCTTCTTTAC -3'
Posted On 2019-05-13