Incidental Mutation 'R0468:Bcl7b'
ID 41744
Institutional Source Beutler Lab
Gene Symbol Bcl7b
Ensembl Gene ENSMUSG00000029681
Gene Name B cell CLL/lymphoma 7B
Synonyms
MMRRC Submission 038668-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0468 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135197226-135210706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135209737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 188 (F188L)
Ref Sequence ENSEMBL: ENSMUSP00000031692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031692] [ENSMUST00000111188] [ENSMUST00000202606]
AlphaFold Q921K9
Predicted Effect probably benign
Transcript: ENSMUST00000031692
AA Change: F188L

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031692
Gene: ENSMUSG00000029681
AA Change: F188L

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: F131L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106819
Gene: ENSMUSG00000029681
AA Change: F131L

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 0.0752 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,240,084 (GRCm39) H1298R possibly damaging Het
5530400C23Rik T C 6: 133,271,421 (GRCm39) L155P probably benign Het
6820408C15Rik A T 2: 152,283,186 (GRCm39) R283S probably benign Het
Aldh1l2 T A 10: 83,354,542 (GRCm39) E104D probably benign Het
Anxa3 T C 5: 96,958,958 (GRCm39) V22A probably benign Het
Brinp1 T A 4: 68,681,013 (GRCm39) I506F probably damaging Het
Bsdc1 T C 4: 129,355,511 (GRCm39) probably benign Het
Ccdc180 T C 4: 45,923,271 (GRCm39) I1075T possibly damaging Het
Cep162 A G 9: 87,075,750 (GRCm39) L1294P probably damaging Het
Cltc G A 11: 86,595,452 (GRCm39) probably benign Het
Col11a1 T C 3: 114,010,707 (GRCm39) probably benign Het
Col14a1 A T 15: 55,252,042 (GRCm39) Y566F unknown Het
Dhx29 A G 13: 113,099,811 (GRCm39) Q1148R probably benign Het
Ehbp1 A G 11: 22,119,184 (GRCm39) probably benign Het
Ehd3 A G 17: 74,112,374 (GRCm39) H46R probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Gm4553 C A 7: 141,719,362 (GRCm39) C22F unknown Het
Hibadh C T 6: 52,534,755 (GRCm39) probably benign Het
Hspg2 G A 4: 137,260,840 (GRCm39) C1613Y probably damaging Het
Hydin G T 8: 111,139,855 (GRCm39) C708F possibly damaging Het
Ifi208 A T 1: 173,511,047 (GRCm39) M401L probably benign Het
Igsf8 G A 1: 172,146,363 (GRCm39) V454M probably damaging Het
Irx4 G T 13: 73,414,839 (GRCm39) probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn2 C T 18: 45,692,538 (GRCm39) T38M possibly damaging Het
L3mbtl3 C T 10: 26,203,630 (GRCm39) R400H unknown Het
Lrp6 T C 6: 134,462,624 (GRCm39) T679A possibly damaging Het
Map9 T C 3: 82,281,510 (GRCm39) probably null Het
Men1 T A 19: 6,386,953 (GRCm39) V5E probably null Het
Mettl14 T C 3: 123,165,061 (GRCm39) D93G probably damaging Het
Neb G T 2: 52,101,568 (GRCm39) R4601S probably damaging Het
Nell1 A G 7: 49,878,594 (GRCm39) T272A probably damaging Het
Or10ag53 A T 2: 87,082,599 (GRCm39) N106I probably benign Het
Or2ak6 A T 11: 58,592,619 (GRCm39) I31F probably damaging Het
Pclo C A 5: 14,727,302 (GRCm39) probably benign Het
Pdia5 A G 16: 35,217,877 (GRCm39) L502P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxna4 C A 6: 32,192,181 (GRCm39) C803F probably damaging Het
Pmfbp1 A G 8: 110,240,600 (GRCm39) probably null Het
Ptgs1 A G 2: 36,139,205 (GRCm39) Y468C probably damaging Het
Pxdn G T 12: 30,044,485 (GRCm39) G488W probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sec31b T A 19: 44,506,947 (GRCm39) probably benign Het
Shank3 G A 15: 89,433,478 (GRCm39) V1333I probably benign Het
Slamf1 A G 1: 171,619,939 (GRCm39) probably benign Het
Slc23a3 T A 1: 75,109,874 (GRCm39) Q131L possibly damaging Het
Slc7a11 A G 3: 50,338,500 (GRCm39) V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 (GRCm39) V449D probably benign Het
Srp68 A T 11: 116,139,590 (GRCm39) I453K probably damaging Het
Steap3 A T 1: 120,162,030 (GRCm39) V414D probably damaging Het
Tagln2 A G 1: 172,333,788 (GRCm39) N131D probably benign Het
Tmem132d T C 5: 128,346,267 (GRCm39) Y85C probably damaging Het
Vcam1 A T 3: 115,909,595 (GRCm39) Y577* probably null Het
Vmn1r214 A G 13: 23,219,423 (GRCm39) T306A probably benign Het
Zfyve1 A T 12: 83,602,048 (GRCm39) probably benign Het
Zgrf1 T A 3: 127,355,690 (GRCm39) N305K possibly damaging Het
Other mutations in Bcl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Bcl7b APN 5 135,208,950 (GRCm39) missense probably damaging 1.00
R3732:Bcl7b UTSW 5 135,209,767 (GRCm39) missense probably benign 0.00
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'- GGTTTGGTCACCTAAAAGCAGGCAG -3'
(R):5'- GGCAAAGTCCATACTCCACAGTCTC -3'

Sequencing Primer
(F):5'- CTAAAAGCAGGCAGAGGGC -3'
(R):5'- AATGAACCCTGATGCTCTGG -3'
Posted On 2013-05-23