Incidental Mutation 'R8747:Bok'
ID 663583
Institutional Source Beutler Lab
Gene Symbol Bok
Ensembl Gene ENSMUSG00000026278
Gene Name BCL2-related ovarian killer
Synonyms mtd, matador
MMRRC Submission 068618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8747 (G1)
Quality Score 182.009
Status Validated
Chromosome 1
Chromosomal Location 93613382-93623486 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 93622664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027499] [ENSMUST00000188394] [ENSMUST00000201863]
AlphaFold O35425
Predicted Effect probably benign
Transcript: ENSMUST00000027499
SMART Domains Protein: ENSMUSP00000027499
Gene: ENSMUSG00000026278

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188394
SMART Domains Protein: ENSMUSP00000140412
Gene: ENSMUSG00000026278

DomainStartEndE-ValueType
Pfam:Bcl-2 71 121 8.3e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000200888
Predicted Effect probably benign
Transcript: ENSMUST00000201863
SMART Domains Protein: ENSMUSP00000144347
Gene: ENSMUSG00000026278

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit minor increase in spleen and thymus weight in female, but not male, mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,240 (GRCm39) D190G probably benign Het
Abhd11 A G 5: 135,040,760 (GRCm39) I271V possibly damaging Het
Akap6 T G 12: 53,188,999 (GRCm39) S2138A probably benign Het
Amn C A 12: 111,241,440 (GRCm39) P235H probably damaging Het
Arf2 A T 11: 103,859,975 (GRCm39) M18L probably benign Het
Asic2 A T 11: 81,043,233 (GRCm39) F20Y possibly damaging Het
Cachd1 T A 4: 100,860,045 (GRCm39) probably benign Het
Casp8 A G 1: 58,883,617 (GRCm39) N308S probably benign Het
Cavin3 G T 7: 105,131,154 (GRCm39) H71Q possibly damaging Het
Ccdc87 A G 19: 4,891,646 (GRCm39) I713V probably benign Het
Clcn6 A T 4: 148,093,354 (GRCm39) probably null Het
Cmas T C 6: 142,716,927 (GRCm39) I273T possibly damaging Het
Ctxn3 A T 18: 57,610,378 (GRCm39) D65V probably damaging Het
D130040H23Rik C A 8: 69,755,705 (GRCm39) N387K probably benign Het
Depp1 T A 6: 116,629,122 (GRCm39) L155Q possibly damaging Het
Dnah9 T C 11: 65,818,816 (GRCm39) K3174R possibly damaging Het
Ecpas C T 4: 58,828,632 (GRCm39) V934I probably damaging Het
Efcab14 A G 4: 115,603,793 (GRCm39) N157S probably damaging Het
Ets1 G A 9: 32,641,474 (GRCm39) G109D probably damaging Het
Fbln5 G A 12: 101,734,754 (GRCm39) R173C probably damaging Het
Fchsd1 G A 18: 38,096,035 (GRCm39) P525L probably benign Het
Gmppa G A 1: 75,416,025 (GRCm39) V156I probably damaging Het
Gtpbp1 A G 15: 79,603,482 (GRCm39) D182G Het
Ift140 T A 17: 25,254,809 (GRCm39) S430T probably benign Het
Kat7 G C 11: 95,185,392 (GRCm39) C161W probably damaging Het
Lipk T A 19: 33,996,184 (GRCm39) M32K probably damaging Het
Lum A T 10: 97,404,351 (GRCm39) D82V possibly damaging Het
Macf1 C A 4: 123,248,944 (GRCm39) A7196S probably damaging Het
Mroh2b T A 15: 4,964,782 (GRCm39) S926T probably damaging Het
Nbn G T 4: 15,981,555 (GRCm39) R549I probably damaging Het
Nfu1 T C 6: 86,996,400 (GRCm39) I117T probably damaging Het
Or51f1 T C 7: 102,506,139 (GRCm39) T117A probably benign Het
Or7a39 A G 10: 78,715,155 (GRCm39) T50A probably benign Het
Parp1 T C 1: 180,422,275 (GRCm39) L778P probably damaging Het
Pbld2 G T 10: 62,888,069 (GRCm39) V125F probably benign Het
Prkag2 A G 5: 25,085,680 (GRCm39) probably null Het
Prss54 A G 8: 96,286,351 (GRCm39) F241L probably benign Het
Rnf121 T C 7: 101,678,316 (GRCm39) D177G probably damaging Het
Slc12a7 G A 13: 73,933,241 (GRCm39) V100I probably benign Het
Slc28a1 C T 7: 80,774,719 (GRCm39) L189F possibly damaging Het
Slc35a3 T C 3: 116,488,219 (GRCm39) Q16R probably damaging Het
Snap91 A G 9: 86,686,577 (GRCm39) F354L probably damaging Het
Steap2 A G 5: 5,723,539 (GRCm39) I447T probably benign Het
Tagap T A 17: 8,147,602 (GRCm39) I104N probably damaging Het
Tas1r2 A G 4: 139,387,318 (GRCm39) D259G probably benign Het
Tgm3 T C 2: 129,886,452 (GRCm39) S558P probably benign Het
Tuba3a A G 6: 125,258,018 (GRCm39) V324A probably damaging Het
Vmn1r238 T G 18: 3,123,232 (GRCm39) I61L possibly damaging Het
Vmn1r52 A G 6: 90,156,451 (GRCm39) T252A probably benign Het
Vmp1 A G 11: 86,492,885 (GRCm39) V308A probably damaging Het
Wdfy4 A C 14: 32,874,611 (GRCm39) V159G Het
Zfp180 A G 7: 23,804,687 (GRCm39) T369A possibly damaging Het
Zfp827 A G 8: 79,755,316 (GRCm39) M1V probably null Het
Zmym4 A G 4: 126,787,198 (GRCm39) I1031T probably damaging Het
Other mutations in Bok
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02590:Bok APN 1 93,614,397 (GRCm39) splice site probably benign
R0135:Bok UTSW 1 93,614,229 (GRCm39) missense probably damaging 1.00
R0153:Bok UTSW 1 93,614,239 (GRCm39) missense probably damaging 1.00
R0464:Bok UTSW 1 93,621,935 (GRCm39) missense probably damaging 1.00
R0485:Bok UTSW 1 93,616,999 (GRCm39) missense probably damaging 1.00
R0883:Bok UTSW 1 93,614,209 (GRCm39) missense probably benign 0.44
R2177:Bok UTSW 1 93,622,787 (GRCm39) nonsense probably null
R4612:Bok UTSW 1 93,621,900 (GRCm39) missense probably damaging 1.00
R4789:Bok UTSW 1 93,616,963 (GRCm39) missense probably damaging 0.98
R7077:Bok UTSW 1 93,616,911 (GRCm39) missense probably damaging 1.00
R7686:Bok UTSW 1 93,622,822 (GRCm39) missense probably benign
R9099:Bok UTSW 1 93,622,661 (GRCm39) missense
R9574:Bok UTSW 1 93,616,947 (GRCm39) missense probably benign 0.28
R9712:Bok UTSW 1 93,614,229 (GRCm39) missense probably damaging 1.00
Z1176:Bok UTSW 1 93,621,767 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- GCCAAATCCAAGATGCTTTTGGG -3'
(R):5'- CAGCTCATCTCTCTGGCAAC -3'

Sequencing Primer
(F):5'- CAAATCCAAGATGCTTTTGGGTACTG -3'
(R):5'- GGAAGAATGCTGCCTTCAGG -3'
Posted On 2021-03-08