Incidental Mutation 'R0883:Bok'
ID 80694
Institutional Source Beutler Lab
Gene Symbol Bok
Ensembl Gene ENSMUSG00000026278
Gene Name BCL2-related ovarian killer
Synonyms mtd, matador
MMRRC Submission 039050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0883 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93613382-93623486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93614209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 14 (I14T)
Ref Sequence ENSEMBL: ENSMUSP00000140412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027499] [ENSMUST00000188394] [ENSMUST00000201863]
AlphaFold O35425
Predicted Effect probably benign
Transcript: ENSMUST00000027499
AA Change: I14T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027499
Gene: ENSMUSG00000026278
AA Change: I14T

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188394
AA Change: I14T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140412
Gene: ENSMUSG00000026278
AA Change: I14T

DomainStartEndE-ValueType
Pfam:Bcl-2 71 121 8.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200888
Predicted Effect probably benign
Transcript: ENSMUST00000201863
AA Change: I14T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144347
Gene: ENSMUSG00000026278
AA Change: I14T

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Meta Mutation Damage Score 0.0679 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 98% (148/151)
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: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
4930595M18Rik G T X: 80,464,537 (GRCm39) T390N possibly damaging Het
Abca13 C T 11: 9,241,238 (GRCm39) Q1034* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Adgra3 T C 5: 50,118,065 (GRCm39) H1161R probably damaging Het
Aff1 T C 5: 103,974,004 (GRCm39) probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Ankrd12 A G 17: 66,292,127 (GRCm39) V1102A probably benign Het
Ankrd54 A T 15: 78,946,931 (GRCm39) C23S probably damaging Het
Anxa10 C T 8: 62,531,001 (GRCm39) V70I probably benign Het
Asap3 T C 4: 135,961,636 (GRCm39) probably benign Het
Asb13 T C 13: 3,695,052 (GRCm39) probably null Het
Atp6v1a A T 16: 43,922,055 (GRCm39) probably benign Het
Atp8b1 T G 18: 64,697,612 (GRCm39) I411L probably benign Het
Baiap3 T A 17: 25,468,075 (GRCm39) N313I probably damaging Het
Bri3bp T A 5: 125,518,808 (GRCm39) probably null Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
Cadm2 A T 16: 66,679,702 (GRCm39) C44S probably damaging Het
Capn11 T C 17: 45,949,807 (GRCm39) probably benign Het
Carm1 T A 9: 21,480,887 (GRCm39) probably benign Het
Ccdc27 T C 4: 154,120,941 (GRCm39) E285G unknown Het
Cct3 T A 3: 88,220,864 (GRCm39) D298E probably damaging Het
Cd59b T A 2: 103,911,331 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Celsr3 T A 9: 108,719,832 (GRCm39) I2470N probably damaging Het
Cfap100 G A 6: 90,392,888 (GRCm39) probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap45 A T 1: 172,359,756 (GRCm39) R98S possibly damaging Het
Cfap54 T A 10: 92,706,531 (GRCm39) H2757L unknown Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cntn4 A T 6: 106,644,501 (GRCm39) probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Daam2 A T 17: 49,805,911 (GRCm39) probably benign Het
Ddias A T 7: 92,508,545 (GRCm39) W457R probably benign Het
Ddr2 C T 1: 169,822,198 (GRCm39) V417I probably benign Het
Dhx57 T C 17: 80,577,800 (GRCm39) T570A probably damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Dtymk C T 1: 93,729,510 (GRCm39) V14M possibly damaging Het
Dync2li1 G A 17: 84,956,699 (GRCm39) M286I probably benign Het
Eea1 G A 10: 95,857,529 (GRCm39) D664N possibly damaging Het
Esp6 G T 17: 40,876,287 (GRCm39) V112L probably benign Het
Fam83h G T 15: 75,878,018 (GRCm39) Q127K probably damaging Het
Gabbr2 G A 4: 46,677,474 (GRCm39) T802I probably benign Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gm5941 G A X: 91,533,817 (GRCm39) A62T possibly damaging Het
Gng2 G T 14: 19,941,363 (GRCm39) D26E probably benign Het
Gpr33 A G 12: 52,070,418 (GRCm39) V207A probably benign Het
Gstm3 T A 3: 107,873,586 (GRCm39) probably benign Het
Havcr1 T C 11: 46,643,259 (GRCm39) C60R probably damaging Het
Hspg2 T C 4: 137,268,751 (GRCm39) S2157P probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Igsf8 C A 1: 172,143,826 (GRCm39) A56D possibly damaging Het
Kat6a G T 8: 23,352,230 (GRCm39) A5S probably damaging Het
Kctd16 A G 18: 40,663,828 (GRCm39) E319G probably damaging Het
Kmo T C 1: 175,474,706 (GRCm39) V157A possibly damaging Het
Lrp5 T A 19: 3,655,308 (GRCm39) I1071F probably damaging Het
Lrrc17 A G 5: 21,766,276 (GRCm39) T253A probably benign Het
Mast2 T A 4: 116,168,964 (GRCm39) H769L probably damaging Het
Mast4 T C 13: 102,990,408 (GRCm39) K50E probably damaging Het
Mbd5 A G 2: 49,146,701 (GRCm39) T304A possibly damaging Het
Mbp T C 18: 82,590,995 (GRCm39) S73P probably damaging Het
Mc5r T A 18: 68,472,163 (GRCm39) V174E probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Minar1 T C 9: 89,484,470 (GRCm39) H309R probably benign Het
Mlh3 C G 12: 85,282,488 (GRCm39) A1382P possibly damaging Het
Mpdz T C 4: 81,278,228 (GRCm39) probably benign Het
Muc5ac A G 7: 141,350,002 (GRCm39) T582A possibly damaging Het
Nalcn A G 14: 123,702,152 (GRCm39) F453S probably damaging Het
Nrap T A 19: 56,333,906 (GRCm39) M902L probably damaging Het
Nup85 C T 11: 115,459,196 (GRCm39) R100* probably null Het
Nxf1 T G 19: 8,741,955 (GRCm39) N296K probably damaging Het
Ogg1 A G 6: 113,305,381 (GRCm39) T65A probably damaging Het
Ogt A G X: 100,687,805 (GRCm39) probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Or56b1b T A 7: 108,164,483 (GRCm39) N173I probably benign Het
Ovol2 T C 2: 144,173,710 (GRCm39) D24G probably damaging Het
Pabpc1 A G 15: 36,599,298 (GRCm39) probably benign Het
Pak6 T C 2: 118,524,168 (GRCm39) L441P probably damaging Het
Pappa T A 4: 65,107,552 (GRCm39) C654* probably null Het
Paqr6 T A 3: 88,273,298 (GRCm39) S97T probably damaging Het
Parp14 T C 16: 35,678,888 (GRCm39) N360S probably benign Het
Pclo G T 5: 14,727,873 (GRCm39) G2244* probably null Het
Pdzrn3 A T 6: 101,132,903 (GRCm39) probably null Het
Pes1 T C 11: 3,925,557 (GRCm39) M220T probably damaging Het
Phip A T 9: 82,758,274 (GRCm39) V1473E probably benign Het
Pkd2l2 T A 18: 34,563,321 (GRCm39) probably null Het
Plch1 T C 3: 63,660,677 (GRCm39) D302G probably damaging Het
Plekhh2 A G 17: 84,925,459 (GRCm39) T1419A probably benign Het
Ppara A T 15: 85,682,372 (GRCm39) E356V probably damaging Het
Ppp1r37 G A 7: 19,266,102 (GRCm39) P555S probably benign Het
Ppp6r1 T C 7: 4,642,709 (GRCm39) E545G possibly damaging Het
Proser3 G A 7: 30,240,124 (GRCm39) H327Y probably damaging Het
Prss43 T A 9: 110,658,576 (GRCm39) I292N probably damaging Het
Pwwp3b T A X: 138,136,444 (GRCm39) D327E probably damaging Het
Pygl G C 12: 70,253,178 (GRCm39) N271K probably damaging Het
Rassf7 T A 7: 140,796,903 (GRCm39) probably benign Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Rspo1 T A 4: 124,885,225 (GRCm39) probably null Het
Sav1 A C 12: 70,012,979 (GRCm39) L366V probably benign Het
Sema3b T G 9: 107,481,355 (GRCm39) T52P possibly damaging Het
Senp6 A G 9: 80,023,841 (GRCm39) D40G probably damaging Het
Sh3pxd2a A G 19: 47,256,646 (GRCm39) S719P probably damaging Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Slc34a3 G T 2: 25,121,245 (GRCm39) D307E probably benign Het
Slc35b3 T C 13: 39,121,251 (GRCm39) I330V probably benign Het
Slc4a10 G A 2: 62,073,742 (GRCm39) C268Y probably benign Het
Slco6d1 A G 1: 98,349,124 (GRCm39) E65G probably benign Het
Slit2 A G 5: 48,402,915 (GRCm39) probably benign Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Snap47 A G 11: 59,329,326 (GRCm39) probably benign Het
Snrnp25 G A 11: 32,156,960 (GRCm39) V15I probably damaging Het
Spns2 T C 11: 72,345,223 (GRCm39) Y449C probably damaging Het
Stab2 T A 10: 86,760,314 (GRCm39) probably benign Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tbc1d2 T A 4: 46,609,003 (GRCm39) K745* probably null Het
Tctn1 T C 5: 122,402,207 (GRCm39) T76A probably damaging Het
Tesl1 A T X: 23,773,290 (GRCm39) I264F probably benign Het
Tfpi T C 2: 84,273,664 (GRCm39) probably benign Het
Timm44 A T 8: 4,316,592 (GRCm39) H317Q probably benign Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,554,992 (GRCm39) probably benign Het
Top3b T C 16: 16,697,301 (GRCm39) probably benign Het
Trak1 T A 9: 121,282,351 (GRCm39) M410K possibly damaging Het
Trpm3 C A 19: 22,956,018 (GRCm39) P1160Q probably damaging Het
Tyk2 T A 9: 21,022,433 (GRCm39) T799S possibly damaging Het
Ubfd1 G A 7: 121,666,714 (GRCm39) probably benign Het
Unc13a G A 8: 72,094,817 (GRCm39) R1272* probably null Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Urb2 C T 8: 124,757,709 (GRCm39) Q1139* probably null Het
Vmn2r66 A T 7: 84,657,070 (GRCm39) S112T probably benign Het
Vmn2r71 A T 7: 85,272,842 (GRCm39) D552V probably benign Het
Vmn2r76 A G 7: 85,877,904 (GRCm39) Y498H probably benign Het
Vmn2r84 A C 10: 130,226,984 (GRCm39) W285G probably damaging Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Yaf2 T C 15: 93,183,417 (GRCm39) K131R probably damaging Het
Zfp141 A T 7: 42,125,480 (GRCm39) Y331N possibly damaging Het
Zfp324 G T 7: 12,704,951 (GRCm39) C380F probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zfpm1 C T 8: 123,062,585 (GRCm39) T548M probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign 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
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
R8747:Bok UTSW 1 93,622,664 (GRCm39) critical splice donor site probably null
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'- GCCAACCTCCTGTGTTGTTTGAATC -3'
(R):5'- TGTACCGGGAACCCTGAAACACTG -3'

Sequencing Primer
(F):5'- TGTTTGAATCGCGCACG -3'
(R):5'- CATCCAACCAGCTATAGAGGGG -3'
Posted On 2013-11-07