Incidental Mutation 'R5618:Bcl7a'
ID 439631
Institutional Source Beutler Lab
Gene Symbol Bcl7a
Ensembl Gene ENSMUSG00000029438
Gene Name B cell CLL/lymphoma 7A
Synonyms 4432415N06Rik
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5618 (G1)
Quality Score 206
Status Not validated
Chromosome 5
Chromosomal Location 123482511-123512146 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123499265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 95 (N95Y)
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: N95Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031391
Gene: ENSMUSG00000029438
AA Change: N95Y

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 noncoding transcript
Transcript: ENSMUST00000083257
Predicted Effect probably benign
Transcript: ENSMUST00000117971
SMART Domains Protein: ENSMUSP00000113264
Gene: ENSMUSG00000029438

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V probably benign 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
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'- AAAATGACTGTACCCCGGGC -3'
(R):5'- TTAAAACCCCTGCGGCTTG -3'

Sequencing Primer
(F):5'- CCCCAGAGCTGTCTCCAACTTAG -3'
(R):5'- GGCTTGTCTGGCTCCAG -3'
Posted On 2016-11-08