Incidental Mutation 'R0220:Bcl7a'
ID 33779
Institutional Source Beutler Lab
Gene Symbol Bcl7a
Ensembl Gene ENSMUSG00000029438
Gene Name B cell CLL/lymphoma 7A
Synonyms 4432415N06Rik
MMRRC Submission 038469-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0220 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123482511-123512146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123489982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 49 (V49I)
Ref Sequence ENSEMBL: ENSMUSP00000113264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031391] [ENSMUST00000117971]
AlphaFold Q9CXE2
Predicted Effect probably damaging
Transcript: ENSMUST00000031391
AA Change: V49I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031391
Gene: ENSMUSG00000029438
AA Change: V49I

DomainStartEndE-ValueType
Pfam:BCL_N 3 51 5.3e-32 PFAM
low complexity region 55 70 N/A INTRINSIC
low complexity region 149 166 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117971
AA Change: V49I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113264
Gene: ENSMUSG00000029438
AA Change: V49I

DomainStartEndE-ValueType
Pfam:BCL_N 2 53 2.5e-32 PFAM
low complexity region 55 70 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120593
SMART Domains Protein: ENSMUSP00000112709
Gene: ENSMUSG00000029438

DomainStartEndE-ValueType
low complexity region 64 81 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,194 (GRCm39) probably null Het
Abcc5 A G 16: 20,187,852 (GRCm39) V863A probably benign Het
Anxa6 A C 11: 54,872,588 (GRCm39) probably null Het
Armc10 A G 5: 21,866,582 (GRCm39) K296R probably benign Het
Arpc2 T A 1: 74,287,293 (GRCm39) F38I probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bcl6 T A 16: 23,784,969 (GRCm39) H677L possibly damaging Het
Ccnj T C 19: 40,833,254 (GRCm39) L144P probably damaging Het
Cdh8 G T 8: 99,838,311 (GRCm39) P510T probably benign Het
Cgnl1 C A 9: 71,632,225 (GRCm39) K375N possibly damaging Het
Cubn C A 2: 13,361,520 (GRCm39) R1695L probably damaging Het
Cyp3a59 G A 5: 146,035,080 (GRCm39) V253I probably benign Het
Cyp4f13 A G 17: 33,148,476 (GRCm39) I208T probably damaging Het
Dennd4a A C 9: 64,759,727 (GRCm39) E277D probably damaging Het
Depdc1a G A 3: 159,229,542 (GRCm39) V625I probably benign Het
Dot1l A T 10: 80,621,692 (GRCm39) D448V probably damaging Het
Efhc1 A G 1: 21,037,582 (GRCm39) D253G probably damaging Het
Eme1 T A 11: 94,541,084 (GRCm39) E246V probably null Het
Foxred1 A G 9: 35,120,749 (GRCm39) L128P probably damaging Het
Gm4787 G T 12: 81,425,422 (GRCm39) S245R probably damaging Het
Gm5141 T A 13: 62,922,271 (GRCm39) K299N probably damaging Het
Greb1 C A 12: 16,732,287 (GRCm39) R1558L probably damaging Het
Ip6k3 A T 17: 27,364,203 (GRCm39) F282I probably damaging Het
Kdm2a T C 19: 4,374,947 (GRCm39) D288G possibly damaging Het
Kdm4d A T 9: 14,374,418 (GRCm39) V480E probably benign Het
Kif26a A T 12: 112,123,824 (GRCm39) Q143L probably damaging Het
Klhl41 G A 2: 69,500,829 (GRCm39) D97N probably benign Het
Krt34 C T 11: 99,929,519 (GRCm39) probably benign Het
Lcn11 A T 2: 25,667,843 (GRCm39) H77L probably benign Het
Megf6 G A 4: 154,342,672 (GRCm39) R529H probably damaging Het
Mipol1 A G 12: 57,503,936 (GRCm39) E368G probably damaging Het
Mtus1 A T 8: 41,447,609 (GRCm39) M442K probably damaging Het
Naca T C 10: 127,879,255 (GRCm39) probably benign Het
Nbea G A 3: 55,912,724 (GRCm39) T1021I probably benign Het
Nfib A T 4: 82,215,013 (GRCm39) V530E probably damaging Het
Nptx1 A G 11: 119,435,467 (GRCm39) V283A probably damaging Het
Opn5 A G 17: 42,907,495 (GRCm39) V127A probably benign Het
Or4c126 G T 2: 89,824,206 (GRCm39) L156F probably benign Het
Or5h22 A T 16: 58,895,095 (GRCm39) M116K probably damaging Het
Pcgf6 A G 19: 47,028,529 (GRCm39) V291A probably benign Het
Pilrb2 C A 5: 137,869,459 (GRCm39) R47L probably benign Het
Prom2 A C 2: 127,383,027 (GRCm39) S72A probably benign Het
Sema3e T C 5: 14,214,167 (GRCm39) F144S possibly damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smarcc2 A T 10: 128,319,505 (GRCm39) D798V probably benign Het
Taf5 T C 19: 47,068,999 (GRCm39) S563P probably damaging Het
Topaz1 A G 9: 122,578,368 (GRCm39) H426R possibly damaging Het
Tpgs1 T A 10: 79,511,271 (GRCm39) C138S possibly damaging Het
Traf1 A T 2: 34,839,115 (GRCm39) V70D probably benign Het
Ttn T C 2: 76,641,737 (GRCm39) Y13453C probably damaging Het
Ubxn4 T A 1: 128,183,931 (GRCm39) V97D possibly damaging Het
Ugt1a8 A T 1: 88,016,057 (GRCm39) I157L probably benign Het
Vmn2r13 A T 5: 109,304,332 (GRCm39) C700S probably damaging Het
Wee1 A T 7: 109,723,733 (GRCm39) D216V probably benign Het
Zc3h4 T C 7: 16,163,198 (GRCm39) Y533H unknown Het
Zfp1005 A T 2: 150,110,595 (GRCm39) Q428H unknown Het
Zfp81 A G 17: 33,555,698 (GRCm39) I43T possibly damaging Het
Zfp963 A T 8: 70,196,145 (GRCm39) Y103N probably benign Het
Zfp963 A T 8: 70,196,143 (GRCm39) Y103* probably null Het
Zzef1 G T 11: 72,756,792 (GRCm39) D1126Y probably damaging Het
Other mutations in Bcl7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0690:Bcl7a UTSW 5 123,490,003 (GRCm39) missense possibly damaging 0.82
R1681:Bcl7a UTSW 5 123,494,086 (GRCm39) missense possibly damaging 0.70
R1865:Bcl7a UTSW 5 123,494,032 (GRCm39) missense probably damaging 0.99
R3921:Bcl7a UTSW 5 123,509,136 (GRCm39) missense probably benign 0.31
R5154:Bcl7a UTSW 5 123,507,422 (GRCm39) missense probably damaging 0.99
R5618:Bcl7a UTSW 5 123,499,265 (GRCm39) missense probably damaging 0.98
R6877:Bcl7a UTSW 5 123,489,958 (GRCm39) missense probably damaging 0.97
R6964:Bcl7a UTSW 5 123,507,519 (GRCm39) critical splice donor site probably null
R7302:Bcl7a UTSW 5 123,482,757 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAATTGTCCTCACAAGACCAGGCTC -3'
(R):5'- GTCCAGTGGCTTTTCTAGGCTTCAG -3'

Sequencing Primer
(F):5'- gcaaggacagagctggg -3'
(R):5'- TCCGTGCTTTCTGAGCAA -3'
Posted On 2013-05-09