Incidental Mutation 'R3732:Bcl7b'
ID 271033
Institutional Source Beutler Lab
Gene Symbol Bcl7b
Ensembl Gene ENSMUSG00000029681
Gene Name B cell CLL/lymphoma 7B
Synonyms
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3732 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135197226-135210706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135209767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 141 (T141A)
Ref Sequence ENSEMBL: ENSMUSP00000106819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031692] [ENSMUST00000111188] [ENSMUST00000202606]
AlphaFold Q921K9
Predicted Effect probably benign
Transcript: ENSMUST00000031692
AA Change: T198A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031692
Gene: ENSMUSG00000029681
AA Change: T198A

DomainStartEndE-ValueType
Pfam:BCL_N 3 51 1.5e-31 PFAM
low complexity region 54 62 N/A INTRINSIC
low complexity region 107 123 N/A INTRINSIC
low complexity region 164 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111188
AA Change: T141A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106819
Gene: ENSMUSG00000029681
AA Change: T141A

DomainStartEndE-ValueType
Pfam:BCL_N 2 53 5.2e-32 PFAM
low complexity region 54 62 N/A INTRINSIC
low complexity region 107 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145329
Predicted Effect probably benign
Transcript: ENSMUST00000202606
SMART Domains Protein: ENSMUSP00000144538
Gene: ENSMUSG00000029681

DomainStartEndE-ValueType
Pfam:BCL_N 2 25 3.8e-11 PFAM
low complexity region 28 36 N/A INTRINSIC
low complexity region 81 97 N/A INTRINSIC
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Ppp1r9a T C 6: 4,906,259 (GRCm39) probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Shf T A 2: 122,175,688 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Slc44a4 G A 17: 35,140,537 (GRCm39) silent Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Twf1 A C 15: 94,482,295 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vps50 T C 6: 3,519,243 (GRCm39) silent Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign Het
Other mutations in Bcl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Bcl7b APN 5 135,208,950 (GRCm39) missense probably damaging 1.00
R0468:Bcl7b UTSW 5 135,209,737 (GRCm39) missense probably benign 0.18
R3732:Bcl7b UTSW 5 135,209,767 (GRCm39) missense probably benign 0.00
R3733:Bcl7b UTSW 5 135,209,767 (GRCm39) missense probably benign 0.00
R4857:Bcl7b UTSW 5 135,202,033 (GRCm39) makesense probably null
R5020:Bcl7b UTSW 5 135,200,017 (GRCm39) critical splice donor site probably null
R6347:Bcl7b UTSW 5 135,209,387 (GRCm39) missense possibly damaging 0.90
R6391:Bcl7b UTSW 5 135,208,879 (GRCm39) missense probably damaging 1.00
R7791:Bcl7b UTSW 5 135,199,968 (GRCm39) missense probably damaging 0.99
R7879:Bcl7b UTSW 5 135,205,986 (GRCm39) missense possibly damaging 0.84
R8387:Bcl7b UTSW 5 135,197,413 (GRCm39) missense probably damaging 1.00
R8408:Bcl7b UTSW 5 135,197,308 (GRCm39) start gained probably benign
R8806:Bcl7b UTSW 5 135,208,824 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TCACCTAAAAGCAGGCAGAG -3'
(R):5'- AGCGCTCCTTTGCTCAAGAG -3'

Sequencing Primer
(F):5'- TACTTCCAGACCACTGAGG -3'
(R):5'- AAGATGGTGCGACGACCC -3'
Posted On 2015-03-18