Incidental Mutation 'R8387:Bcl7b'
ID 647203
Institutional Source Beutler Lab
Gene Symbol Bcl7b
Ensembl Gene ENSMUSG00000029681
Gene Name B cell CLL/lymphoma 7B
Synonyms
MMRRC Submission 067876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8387 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 135197226-135210706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135197413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 18 (I18T)
Ref Sequence ENSEMBL: ENSMUSP00000031692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031692] [ENSMUST00000111187] [ENSMUST00000111188] [ENSMUST00000153183] [ENSMUST00000202606]
AlphaFold Q921K9
Predicted Effect probably damaging
Transcript: ENSMUST00000031692
AA Change: I18T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031692
Gene: ENSMUSG00000029681
AA Change: I18T

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 possibly damaging
Transcript: ENSMUST00000111187
AA Change: I18T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106818
Gene: ENSMUSG00000029681
AA Change: I18T

DomainStartEndE-ValueType
Pfam:BCL_N 2 53 8.4e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111188
AA Change: I18T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106819
Gene: ENSMUSG00000029681
AA Change: I18T

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: ENSMUST00000153183
SMART Domains Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 50 59 N/A INTRINSIC
WD40 75 114 1.89e-9 SMART
Blast:WD40 122 161 5e-14 BLAST
WD40 173 212 1.67e-1 SMART
WD40 214 253 2.38e1 SMART
WD40 264 303 6.04e-8 SMART
Blast:WD40 313 353 4e-16 BLAST
WD40 358 395 1.28e0 SMART
coiled coil region 411 442 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202606
AA Change: S3P
SMART Domains Protein: ENSMUSP00000144538
Gene: ENSMUSG00000029681
AA Change: S3P

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Dhtkd1 C A 2: 5,934,479 (GRCm39) L230F possibly damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Guf1 C T 5: 69,723,810 (GRCm39) P463L probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ifngr2 T C 16: 91,358,535 (GRCm39) L245P probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or2o1 T C 11: 49,051,497 (GRCm39) S219P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A 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
R7879:Bcl7b UTSW 5 135,205,986 (GRCm39) missense possibly damaging 0.84
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'- TGACTTGGAAACCTCATCCCAC -3'
(R):5'- CTGAATTCACGCCGATACCG -3'

Sequencing Primer
(F):5'- TCAGCCTGGCAGCAAGAG -3'
(R):5'- GCCCTCCTTTCGCTTTTTGG -3'
Posted On 2020-09-02