Incidental Mutation 'R6877:Bcl7a'
ID 536457
Institutional Source Beutler Lab
Gene Symbol Bcl7a
Ensembl Gene ENSMUSG00000029438
Gene Name B cell CLL/lymphoma 7A
Synonyms 4432415N06Rik
MMRRC Submission 044973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6877 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 123482511-123512146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123489958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
Ref Sequence ENSEMBL: ENSMUSP00000031391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031391] [ENSMUST00000117971]
AlphaFold Q9CXE2
Predicted Effect probably damaging
Transcript: ENSMUST00000031391
AA Change: T41A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031391
Gene: ENSMUSG00000029438
AA Change: T41A

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 possibly damaging
Transcript: ENSMUST00000117971
AA Change: T41A

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113264
Gene: ENSMUSG00000029438
AA Change: T41A

DomainStartEndE-ValueType
Pfam:BCL_N 2 53 2.5e-32 PFAM
low complexity region 55 70 N/A INTRINSIC
Meta Mutation Damage Score 0.9384 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 94% (47/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,078,274 (GRCm39) H650R probably benign Het
Adgrl2 T C 3: 148,522,922 (GRCm39) Y1367C probably damaging Het
Aqr A T 2: 113,947,052 (GRCm39) C1043* probably null Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
AU041133 A G 10: 81,987,405 (GRCm39) T352A probably benign Het
Btbd10 A T 7: 112,921,967 (GRCm39) F298Y probably damaging Het
Ccdc57 G A 11: 120,764,528 (GRCm39) T749I probably benign Het
Clcnkb T C 4: 141,132,143 (GRCm39) N646S probably benign Het
Dcst1 T C 3: 89,257,667 (GRCm39) D701G probably benign Het
Dnah14 C A 1: 181,455,997 (GRCm39) T1001K possibly damaging Het
Dnah8 G T 17: 30,965,933 (GRCm39) G2422W probably damaging Het
Dyrk2 A T 10: 118,696,328 (GRCm39) I310N probably damaging Het
Eif5b A T 1: 38,089,320 (GRCm39) N1099Y probably damaging Het
Elp2 T A 18: 24,768,033 (GRCm39) N762K probably benign Het
Esco2 A G 14: 66,068,494 (GRCm39) V272A probably benign Het
Fat3 A C 9: 15,910,564 (GRCm39) S1813A probably benign Het
Igf2r A G 17: 12,916,228 (GRCm39) V1710A probably damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kcnk5 T C 14: 20,194,784 (GRCm39) T185A possibly damaging Het
Litafd G A 16: 8,501,173 (GRCm39) V10I unknown Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nol4 A T 18: 22,852,186 (GRCm39) C460S probably benign Het
Ntaq1 C A 15: 58,017,074 (GRCm39) P163Q probably damaging Het
Or10g3b T A 14: 52,587,270 (GRCm39) I78F possibly damaging Het
Or4f14b T C 2: 111,775,184 (GRCm39) I206V probably benign Het
Ovch2 G A 7: 107,389,315 (GRCm39) A371V probably benign Het
Pcdhb4 A G 18: 37,442,625 (GRCm39) D645G probably damaging Het
Pcnt A C 10: 76,269,851 (GRCm39) S207A possibly damaging Het
Pex1 A T 5: 3,685,505 (GRCm39) Q1211L probably benign Het
Pnn A G 12: 59,115,553 (GRCm39) E99G probably damaging Het
Prkrip1 A T 5: 136,218,478 (GRCm39) probably null Het
Rnf133 A G 6: 23,649,486 (GRCm39) F191L probably benign Het
Scn10a T C 9: 119,438,848 (GRCm39) T1674A probably damaging Het
Sdccag8 G A 1: 176,839,501 (GRCm39) V682M probably damaging Het
Spi1 T C 2: 90,944,741 (GRCm39) L162P probably damaging Het
Sptan1 C G 2: 29,920,985 (GRCm39) N2432K probably damaging Het
Stx2 A G 5: 129,064,884 (GRCm39) V271A probably benign Het
Sumf2 G A 5: 129,878,867 (GRCm39) D68N probably damaging Het
Tsc22d4 A G 5: 137,760,855 (GRCm39) E92G possibly damaging Het
Ube3c G T 5: 29,792,316 (GRCm39) R37L probably benign Het
Ubr5 A G 15: 38,002,814 (GRCm39) S1446P probably damaging Het
Veph1 T C 3: 66,162,505 (GRCm39) N51S probably damaging Het
Vmn1r82 T C 7: 12,039,290 (GRCm39) F70L possibly damaging Het
Vmn2r92 A G 17: 18,389,084 (GRCm39) N466S probably damaging Het
Vwf T A 6: 125,634,164 (GRCm39) V2153D possibly damaging Het
Yeats2 A G 16: 19,998,344 (GRCm39) T300A probably benign Het
Zc3h12d G T 10: 7,715,735 (GRCm39) R46L probably damaging Het
Zfp516 T C 18: 82,973,916 (GRCm39) I38T probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Zpld1 C T 16: 55,072,034 (GRCm39) G75E probably damaging Het
Other mutations in Bcl7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0220:Bcl7a UTSW 5 123,489,982 (GRCm39) missense probably damaging 1.00
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
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'- AGGGAGCACGAATCTTATGTG -3'
(R):5'- CAGGTCCAGTGGCTTTTCTAGG -3'

Sequencing Primer
(F):5'- CGAATCTTATGTGGGCCAAGTGAC -3'
(R):5'- TCTAGGCTTCAGCTGGGCTC -3'
Posted On 2018-10-18