Incidental Mutation 'R7879:Bcl7b'
ID 608632
Institutional Source Beutler Lab
Gene Symbol Bcl7b
Ensembl Gene ENSMUSG00000029681
Gene Name B cell CLL/lymphoma 7B
Synonyms
MMRRC Submission 045931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7879 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 135197226-135210706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135205986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 58 (E58K)
Ref Sequence ENSEMBL: ENSMUSP00000031692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031692] [ENSMUST00000111187] [ENSMUST00000111188] [ENSMUST00000202606]
AlphaFold Q921K9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031692
AA Change: E58K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031692
Gene: ENSMUSG00000029681
AA Change: E58K

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: ENSMUST00000111187
SMART Domains Protein: ENSMUSP00000106818
Gene: ENSMUSG00000029681

DomainStartEndE-ValueType
Pfam:BCL_N 2 53 8.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111188
AA Change: E58K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106819
Gene: ENSMUSG00000029681
AA Change: E58K

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 probably benign
Transcript: ENSMUST00000202606
AA Change: E32K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144538
Gene: ENSMUSG00000029681
AA Change: E32K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,439,662 (GRCm39) I81T probably benign Het
Acnat2 G A 4: 49,383,299 (GRCm39) P85S probably damaging Het
Akr1c19 G A 13: 4,286,223 (GRCm39) V74M probably damaging Het
Alb C A 5: 90,620,507 (GRCm39) T539K probably benign Het
B4galnt2 G A 11: 95,760,223 (GRCm39) T268I possibly damaging Het
Calr3 C T 8: 73,178,487 (GRCm39) S372N unknown Het
Cdcp3 T A 7: 130,844,871 (GRCm39) V588E probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Cdh20 A C 1: 109,976,677 (GRCm39) E114A probably benign Het
Cep70 A G 9: 99,144,686 (GRCm39) R74G possibly damaging Het
Chrna6 A G 8: 27,897,109 (GRCm39) F256S probably damaging Het
Cic A G 7: 24,984,551 (GRCm39) T996A probably benign Het
Clstn2 A G 9: 97,351,817 (GRCm39) V536A possibly damaging Het
Csmd1 A T 8: 16,441,820 (GRCm39) M348K probably benign Het
Dnah11 A C 12: 118,004,744 (GRCm39) D2192E probably damaging Het
Dnhd1 A G 7: 105,352,646 (GRCm39) I2600V probably benign Het
Dock3 A C 9: 106,785,700 (GRCm39) S185A probably benign Het
Dock4 A T 12: 40,780,083 (GRCm39) D628V possibly damaging Het
Dzank1 A T 2: 144,333,718 (GRCm39) S371T probably benign Het
Fam83b A T 9: 76,399,737 (GRCm39) N455K possibly damaging Het
Fcrlb T C 1: 170,736,365 (GRCm39) Y137C probably damaging Het
Gtf2i G A 5: 134,295,471 (GRCm39) T327M possibly damaging Het
Hspa5 T A 2: 34,665,941 (GRCm39) M595K probably benign Het
Htt C T 5: 34,981,252 (GRCm39) A875V probably benign Het
Hvcn1 G A 5: 122,376,701 (GRCm39) probably null Het
Igsf10 A G 3: 59,238,145 (GRCm39) S679P probably damaging Het
Itsn2 A G 12: 4,751,265 (GRCm39) H1285R probably benign Het
Kcnq4 T C 4: 120,559,632 (GRCm39) T523A probably benign Het
Kif6 T A 17: 50,139,214 (GRCm39) I562N probably benign Het
Klhl9 C A 4: 88,638,575 (GRCm39) W555C probably damaging Het
Krt78 T C 15: 101,856,624 (GRCm39) T423A probably benign Het
Mapk10 C T 5: 103,111,362 (GRCm39) V391I probably benign Het
Noa1 T C 5: 77,445,044 (GRCm39) M592V probably benign Het
Npy5r A G 8: 67,133,968 (GRCm39) M275T possibly damaging Het
Nuak2 T A 1: 132,259,695 (GRCm39) V499E probably benign Het
Or4x6 A T 2: 89,949,185 (GRCm39) C252* probably null Het
Or6c213 T C 10: 129,574,559 (GRCm39) I76V probably benign Het
Otogl T C 10: 107,612,970 (GRCm39) E2052G probably benign Het
Pard3b T A 1: 62,198,670 (GRCm39) C253S possibly damaging Het
Pclo T C 5: 14,727,228 (GRCm39) S2029P unknown Het
Plekhg3 A G 12: 76,612,343 (GRCm39) I401M probably damaging Het
Polg A T 7: 79,100,392 (GRCm39) C1140S probably benign Het
Prl7c1 A T 13: 27,962,817 (GRCm39) L62H probably damaging Het
Psmf1 T A 2: 151,576,163 (GRCm39) E115V probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Pzp A G 6: 128,465,979 (GRCm39) S1234P probably benign Het
Qrich1 A G 9: 108,436,485 (GRCm39) T728A possibly damaging Het
Ralgps2 C A 1: 156,656,636 (GRCm39) A323S probably benign Het
Rimbp3 T C 16: 17,028,910 (GRCm39) V778A possibly damaging Het
Scn1a A T 2: 66,116,349 (GRCm39) L430* probably null Het
Sema7a A T 9: 57,862,363 (GRCm39) I189F probably damaging Het
Slc22a8 T C 19: 8,571,386 (GRCm39) I39T probably benign Het
Stap2 T C 17: 56,309,023 (GRCm39) T115A probably benign Het
Stmn4 A G 14: 66,595,388 (GRCm39) I138V probably benign Het
Suds3 C T 5: 117,236,335 (GRCm39) probably null Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tet1 A C 10: 62,714,825 (GRCm39) D323E probably benign Het
Tia1 A G 6: 86,401,347 (GRCm39) D140G probably damaging Het
Trio C T 15: 27,852,010 (GRCm39) R827H possibly damaging Het
Ttn A G 2: 76,625,397 (GRCm39) probably null Het
Unc80 T C 1: 66,549,866 (GRCm39) V708A probably benign Het
Vmn1r194 A T 13: 22,428,772 (GRCm39) T130S probably benign Het
Wfikkn2 A G 11: 94,129,755 (GRCm39) C129R probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging 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
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
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'- TATGGAGCTCCCTCTGGAAC -3'
(R):5'- TCCTGTGACGTCTTTGAATTAGTC -3'

Sequencing Primer
(F):5'- TCCCTCTGGAACTGGAGAGTG -3'
(R):5'- ATGCCCTGGAACTGCAGTTAG -3'
Posted On 2019-12-20