Incidental Mutation 'R2177:Bok'
ID 236916
Institutional Source Beutler Lab
Gene Symbol Bok
Ensembl Gene ENSMUSG00000026278
Gene Name BCL2-related ovarian killer
Synonyms mtd, matador
MMRRC Submission 040179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2177 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93613382-93623486 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 93622787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 112 (Q112*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027499] [ENSMUST00000188394] [ENSMUST00000201863]
AlphaFold O35425
Predicted Effect possibly damaging
Transcript: ENSMUST00000027499
AA Change: T182I

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027499
Gene: ENSMUSG00000026278
AA Change: T182I

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185685
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
AA Change: Q112*
Predicted Effect possibly damaging
Transcript: ENSMUST00000201863
AA Change: T182I

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144347
Gene: ENSMUSG00000026278
AA Change: T182I

DomainStartEndE-ValueType
BCL 71 172 6.99e-37 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,312 (GRCm39) N356K probably damaging Het
Acap2 C T 16: 30,952,346 (GRCm39) probably null Het
Adamts19 T C 18: 59,087,626 (GRCm39) L552P possibly damaging Het
Adamts2 T A 11: 50,668,055 (GRCm39) M539K probably damaging Het
Aplp1 A T 7: 30,141,946 (GRCm39) C210* probably null Het
Apoa1 A T 9: 46,141,371 (GRCm39) K156* probably null Het
AW551984 G A 9: 39,511,111 (GRCm39) R159C probably benign Het
Cemip2 T C 19: 21,789,149 (GRCm39) S528P possibly damaging Het
Cfap57 T G 4: 118,463,885 (GRCm39) I323L probably benign Het
Cfap69 T A 5: 5,675,803 (GRCm39) E270D probably damaging Het
Ch25h G T 19: 34,452,097 (GRCm39) L144M probably damaging Het
Clcn6 T A 4: 148,099,057 (GRCm39) I429F possibly damaging Het
Cpb1 T A 3: 20,320,611 (GRCm39) T115S probably benign Het
Csf1r T A 18: 61,248,015 (GRCm39) probably benign Het
Ddx6 A G 9: 44,539,028 (GRCm39) T279A probably damaging Het
Dnah8 A G 17: 30,872,367 (GRCm39) H452R probably benign Het
Dscam T A 16: 96,411,524 (GRCm39) D1784V probably damaging Het
Exo1 T A 1: 175,710,456 (GRCm39) probably null Het
Fcho1 A G 8: 72,164,905 (GRCm39) S459P probably damaging Het
Fxyd4 C T 6: 117,911,393 (GRCm39) A56T probably damaging Het
Gbf1 T C 19: 46,254,109 (GRCm39) S599P probably benign Het
Iqce T C 5: 140,677,348 (GRCm39) probably benign Het
Kat2a A G 11: 100,601,648 (GRCm39) F256L probably damaging Het
Klk1b1 G T 7: 43,618,695 (GRCm39) R24L possibly damaging Het
Krtap16-1 A G 11: 99,877,275 (GRCm39) V43A probably damaging Het
Maea C G 5: 33,529,034 (GRCm39) Q326E probably benign Het
Man1a2 A T 3: 100,539,847 (GRCm39) I308N probably damaging Het
Marf1 G T 16: 13,970,471 (GRCm39) R83S probably benign Het
Me3 A C 7: 89,282,278 (GRCm39) T54P probably benign Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Mmel1 A G 4: 154,978,560 (GRCm39) N664S probably damaging Het
Mrgprb2 A G 7: 48,202,128 (GRCm39) V199A probably benign Het
Mrpl36 T A 13: 73,479,588 (GRCm39) F33I probably benign Het
Nlrp4e A T 7: 23,054,686 (GRCm39) T947S probably benign Het
Or14c45 G A 7: 86,176,870 (GRCm39) V302I probably benign Het
Or4b1d T A 2: 89,968,808 (GRCm39) H225L possibly damaging Het
Or8b55 A T 9: 38,727,482 (GRCm39) I228F possibly damaging Het
Parp4 A T 14: 56,896,746 (GRCm39) R1923S unknown Het
Pcm1 T C 8: 41,729,002 (GRCm39) V658A probably benign Het
Pkhd1l1 A G 15: 44,322,791 (GRCm39) S26G probably benign Het
Prom1 A T 5: 44,184,081 (GRCm39) H433Q possibly damaging Het
Rab7 T C 6: 87,982,063 (GRCm39) D104G probably damaging Het
Rabgap1l A G 1: 160,551,632 (GRCm39) V282A possibly damaging Het
Rdh13 T C 7: 4,430,666 (GRCm39) E264G possibly damaging Het
Rock1 C G 18: 10,070,263 (GRCm39) R1270T probably benign Het
Sdhaf4 C T 1: 24,035,370 (GRCm39) G93R probably damaging Het
Sec24a T C 11: 51,595,228 (GRCm39) T910A probably benign Het
Sesn1 A G 10: 41,779,778 (GRCm39) H345R possibly damaging Het
Snx4 T A 16: 33,106,428 (GRCm39) probably null Het
Tchh A G 3: 93,351,439 (GRCm39) E293G unknown Het
Ulk2 T A 11: 61,682,335 (GRCm39) T727S probably benign Het
Usp53 T C 3: 122,729,706 (GRCm39) E756G probably damaging Het
Vmn2r68 G A 7: 84,871,123 (GRCm39) A720V probably benign Het
Vmn2r79 A G 7: 86,645,839 (GRCm39) N56S possibly damaging Het
Washc5 A T 15: 59,235,118 (GRCm39) Y263* probably null Het
Zfp119b A T 17: 56,245,639 (GRCm39) C516S 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
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'- GACACTGTTCCCTACCTAGC -3'
(R):5'- CCCAATTTGAGTGAGGGAGG -3'

Sequencing Primer
(F):5'- ACCTAGCTCTCAGGTGTCC -3'
(R):5'- AGGGAGGTGCTTTGTAGGTAC -3'
Posted On 2014-10-02